Theme:Treatment of Anaemia

AAndrogens
BAntithymocte globulin
CBone marrow transplantation
DBlood Transfusion
ECorticosteroids
FErythropoietin
GFolate tablets
HOral Iron
IParenteral Iron
JVitamin B12 injection
KNone required
Select the most appropriate treatment for
the following cases with anaemia:

A 44-year-old man presents with

recurrent respiratory tract infection and
haematuria over the past 6 months. On
examination he is pale and has multiple
mouth ulcers present. Full blood count
shows a pancytopenia.

Correct
A patient with multiple infections, mouth
ulcers and a pancytopenia is likely to
have aplastic anaemia. The uses of
antithymocyte globulin include the
treatment of aplastic anaemia, the
prevention and treatment of transplant
rejection, and other conditions in which
immunosuppression may be indicated.
Pretreatment with this drug quashes
rogue T cells in the DiGeorge syndrome
and permits a successful thymus
transplant.

A 26-year-old female is 36 weeks

pregnant and presents with easy tiredness
and nail brittleness. Her Haemoglobin is
6.9 g/dl with a MCV of 63 fl.

Correct
Severe iron deficiency in pregnancy
should be treated with parenteral iron.
This rapid repletion of iron stores will
avoid the prolonged effects of iron
deficiency on foetus and mother.

A 80-year-old male presents with

tiredness, weakness and deteriorating
confusion. On examination he is pale and
confused, has ataxia on standing with
loss of vibration sensation and
exaggerated leg reflexes. A full blood
count reveals a pancytopaenia.

Correct
B12 and folate are B complex vitamins
that are necessary for normal red blood
cell formation, tissue and cellular repair,
and DNA synthesis. A B12 and/or folate
deficiency reflects a chronic shortage of
one or both of these vitamins. B12
deficiency is a common cause of
macrocytic (megaloblastic) anaemia and,
in advanced cases, pancytopenia.
Neurological sequelae from vitamin B12
deficiency include parasthesiae,
peripheral neuropathy, and
demyelination of the corticospinal tract
and dorsal columns (subacute combined
systems disease). Vitamin B12
deficiency also has been linked to
psychiatric disorders, including impaired
memory, irritability, depression,
dementia and, rarely, psychosis.

A 59-year-old female with a long history

of joint pain and early morning stiffness,
now complains of easy fatigability and

tinnitus. Her Haemoglobin is 8.2 g/dl and

the serum ferritin is 45 mmol/l (15-300).

Correct
The diagnosis here is likely to be a
vasculitis leading to the early morning
stiffness and joint pains. The anaemia is
likely due to the vasculitis, and given the
normal ferritin and the symptomatic
anaemia, then erythropoietin therapy is
indicated. Tinnitus may be a symptom of
vasculitis, although it is also a symptom
of anaemia.

A 38-year-old female with multiple

submucosal fibroids presents with easy
fatigability. Her Haemoglobin is 8.6 g/dl,
MCV is 70 fl, and the platelets 450x10 to
the power of 9

Correct
This patient has iron deficiency anaemia
secondary to PV bleeding. Oral Iron
therapy is the most appropriate therapy,
as well as treatment of the underlying
gynaecological abnormality.

Classification of anaemia...
Theme:Clotting disorders:
ADesmopressin
BFactor VIII concentrate
CFactor X
DFresh frozen plasma
EFolic acid
FGelofusin
GHeparin
HSteroids

IVitamin K
JWarfarin
For each patient below, choose the
SINGLE most appropriate treatment
from the above list of options. Each
option may be used once, more than once
or not at all.
A 7-year-old boy is admitted with
haemarthrosis of his left knee. These
episodes have been recurrent since his
early years. His Activated partial
thromboplastin time is significantly
prolonged but bleeding time is normal.

Incorrect - The correct answer is

Factor VIII concentrate
This boy suffers from haemophilia
probably A. This is inherited as a sex
linked recessive condition seen in 1 per
10,000 male births. Minor bleeds are
treated with desmopressin, which raises
factor VIII levels. Major bleeds require
factor VIII concentrate administration to
raise levels to above 50%.

A 23-year-old lady, 10 weeks pregnant,

is diagnosed with a pulmonary
embolism. She is allergic to warfarin

Correct
Treatment is with Heparin throughout
pregnancy. Warfarin should not be
prescribed in the first trimester because
of teratogenicity and also after 37 weeks
because of the risk of bleeding.

A 65-year-old alcoholic man is admitted

with bleeding oesophageal varices. He
has received 6 units of blood and has a
prolonged prothrombin time

Incorrect - The correct answer is

Fresh frozen plasma
The combination of liver disease and
massive transfusion means this patient
needs fresh frozen plasma to replace his
clotting factors

A 5 day old baby girl whose mother is

taking anticonvulsants is admitted with
unexplained bruising. Clotting profile
reveals both her prothrombin and partial
thromboplastin times are elevated

Incorrect - The correct answer is

Vitamin K
This baby has haemorrhagic disease of
the new born which is due to the absence
of vitamin K dependent clotting factors.
In her case probably due to her mother
taking anticonvulsants. The treatment of
choice is Vitamin K.

A 70-year-old man with a prosthetic

mitral valve is admitted to hospital with
a 2 day history of bleeding per rectum
and a INR of 6. He had been commenced
on ciprofloxacin 3 days previously, to
treat a urinary tract infection by his GP.

Correct

The high INR (International normalized

ratio is the patients prothrombin time
expressed as a compared to the control)
points to a drug interaction between
wafarin and ciprofloxacin. The treatment
of choice to stop his bleeding is Fresh
frozen plasma, since it is vital that this
patient remains anticoagulated. Vitamin
K would take too long (days) to control
this patients bleeding tendency.

Disorders of the various clotting

factors...
A 7-year-old boy with a family history of
a haemophilia presents with
haemorrhage into the left knee joint.

Correct
Item 1 most likely has haemophilia A,
which is a sex-linked disorder which
results in reduced or absent factor VIII.
Haemoarthrosis leads to crippling
deformity of the joints. Factor VIII
replacement is required when these
patients bleed.

A 27-year-old female with type I von

Willebrand's disease presents to A&E
with a sprained left ankle after tripping
on an uneven pavement. There is
extensive bruising of the lateral border of
the foot and ankle.

Incorrect - The correct answer is

DDAVP (Desmopressin)
Item 2 has von Willebrand disease. vWF
is responsible for platelet adhesion and a
carrier for factor VIII:C. Patients often

complain of mucocutaneous bleeding or

menorrhagia. Desmopressin is used for
mild disease, such as in this case. In
severe disease vWF and F VIII must be
given.

A 73-year-old woman present with

bruising on extremely minor trauma and
widespread purpura. Her platelet count is
14 and a bone marrow shows
megakaryocytes suggestive of immune
thrombocytopenia purpura.

Correct
Chronic ITP tends to affect adult females
and acute ITP affects children with no
sex predominance. Antiplatelet
autoantibodies cause destruction of
platelets. If the patient is symptomatic or
has a platelet count below 20 then
prednisolone should be given.
Splenectomy cures the majority of cases.

A 77-year-old female who takes warfarin

for atrial fibrillation presents to A&E
with a severe nosebleed. Her INR is 14.

Correct
Item 4 most likely has warfarin toxicity.
The warfarin therefore should be stopped
and fresh frozen plasma and vitamin k
given.

A 38-year-old female complains of

heavy periods. See undergoes thorough
investigation and the gynaecologist
diagnoses dysfunctional uterine bleeding.

Correct
Dysfunctional uterine bleeding is when
there is menorrhagia without any organic
cause. It may be treated medically and
surgically. Tranexamic acid, mefenamic
acid, COCP may be used. Surgical
options include endometrial ablation and
hysterectomy (which is curative).
Theme:Diagnosis of haemolytic anaemia
Ahereditary spherocytosis
Bsickle cell anaemia
Cglucose 6-phosphate dehydrogenase
deficiency
Db-thalassaemia major
Ehypersplenism
Fparoxysmal nocturnal haemoglobinuria
Gcold auto-immune haemolytic anaemia
Hdisseminated intravascular coagulation
Iwarm auto-immune haemolytic anaemia
Jmalaria
Kdrug induced haemolytic anaemia
For each case below, choose the
SINGLE most likely cause from the
above list of options. Each option may be
used once, more than once, or not at all.
A 17-year-old man presents with fever,
neck stiffness and photophobia. On
examination he is hypotensive and
peripherally shut down, with purpura
over his legs. There is persistent oozing
from his venepuncture sites. His blood
film contains many red cell fragments.

Correct
This patient has the clinical picture of
meningococcal meningitis, causing
disseminated intravascular coagulation.
There is widespread fibrin deposition
(causing tissue ischaemia with

multiorgan failure) with consumption of

coagulation factors and platelets (causing
haemorrhage). Red cells can be
fragmented when passing through fibrin
strands in small vessels (microangiopathic haemolytic anaemia).

A 19-year-old Nigerian presents with

painful haemolytic crises following a
chest infection. She is noted to have
fingers of varying lengths.

Correct
Sickle cell disease occurs frequently in
African Black populations. This patient
is having a painful sickle cell crisis,
sometimes precipitated by infection,
deoxygenation (operations, exposure to
cold, strenous exercise) or dehydration
but often no underlying cause is found.
Infarcts can occur in organs including
bone. Infarcts of the small bones in the
hands as a child can lead to digits of
varying lengths.

A 59-year-old vagrant with known

alcoholic chronic liver disease is found
to have anaemia and thrombocytopenia.
He has evidence of portal hypertension.

Correct
Portal hypertension causes
hypersplenism, which is a clinical
syndrome characterised by
splenomegaly, pancytopenia (or
reduction of one or more of blood cell
types), normal production of precursor
cells in marrow with premature release
of cells from marrow. There is reduced

red cell and platelet survival. Other

causes of hypersplenism include
rheumatoid arthritis (Felty's synfrome),
infections (eg malaria, leishmaniasis)
and lymphoma.

A 60-year-old woman has painful

cyanosed fingers and hands since her
recent severe chest infection several
weeks ago, which responded to
erythromycin but not to penicillin.

Correct
Autoimmune haemolytic anaemia is
characterised by positive Coomb's test,
and divided into cold or warm types,
depending on whether autoantibodies
bind to red cells better at 37oC or 4 oC.
This patient has an atypical chest
infection which does not respond to
penicillin. Mycoplasma infection is
associated with cold agglutinins, which
cause Raynauld's phenomenon and cold
auto-immune haemolytic anaemia.

A 6-year-old boy has had severe anaemia

since he was 6 months old. He has
bossing of his skull with enlarged
maxilla, and prominent frontal and
parietal bones.

Correct
b-thalassaemia major occurs when either
no or small amounts of b chain are
produced , such that alpha chains
precipitate in erythroblasts and mature
red cells. Hence there is ineffective
erythropoiesis, and haemolysis. Severe
anaemia occurs at 3-6 months after birth,

when switch from g to b chain

production takes place. There is
expansion of bones due to marrow
hyperplasia leading to thalassaemic
facies: hair-on-end appearance of skull
X-ray and thinning of cortex with
increased risk of fractures

Classification of auntoimmune
haemolytic anaemia...
A 50-year-old woman presents with
lethargy and dysphagia. Oral
examination showed a smooth tongue,
angular stomatitis and koilonychia. Her
haemoglobin concentration is 8g/dL
(11.5-16.5) with an MCV of 60fL (8096).

Correct
This woman has iron deficiency anaemia
and is suggestive of Patterson-KellyBrown syndrome post-cricoid web.

A 60-year-old lady complains of

tiredness, sore tongue, and numb/tingling
feet. Full blood count reveals a
haemoglobin concentration of 7g/dL
(11.5-16.5) and an MCV of 115 fL (8096).

Correct
This case is a description of pernicious
anaemia with neurology associated with
a macrocytic anaemia. This is a result of
vitamin B12 deficiency and may
manifest as peripheral neuropathy,
extensor plantar responses and brisk
knee jerks.

A 62-year-old woman with longstanding

rheumatoid arthritis is noted to have
splenomegaly. A full blood count reveals
a haemoglobin concentration of 8.7 g/dL
(11.5-16.5), a platelet count of 100
x109/L (150-400 x109/L) and a white cell
count of 3.5 x109/L (4-11 x109/L).

Correct
The third case has Feltys syndrome with
pancytopaenia associated with a
hypersplenism in rheumatoid arthritis.

A 55-year-old male presents with a

month history of tiredness and lethargy.
He has been hypertensive for 5 years and
recently started alpha-methyldopa. Full
blood count reveals a haemoglobin of 8.5
g/dL (13-18) with an MCV of 92 fL (8096) and an increased reticulocyte count.

Correct
This case is a description of haemolytic
anaemia due to alpha-methyl dopa.

A 65-year-old male is admitted for

routine herniorrhaphy but is found to
have a raised lymphocyte count of 15
x109/L (1.5-4 x109/L) on full blood
count.

Correct

This is a typical presentation of CLL

often discovered during routine blood
testing.
A 64-year-old female patient presents
with breathlessness on minimal exertion.
She has a symmetrical deforming
arthropathy affecting the small joints of
her hands and subcutaneous nodules on
her elbows. She is currently on Non
steroidal anti- inflammatory drugs.
Faecal occult blood tests are negative.

Correct
Certain chronic infections and
inflammatory diseases cause chronic
anaemia as a result of slightly shortened
red blood cell life span and sequestration
of iron in inflammatory cells called
macrophages, resulting in a decrease in
the amount of iron that is available to
make red blood cells. The symptoms of
the anaemia may go unnoticed in the
face of the primary disease. Examples
include rheumatoid arthritis,
inflammatory bowel disease, chronic
renal failure, osteomyelitis and bacterial
endocarditis. This type of anaemia
responds to the treatment of the
underlying disease.

A 51-year-old female with a history of

treatment for thyroid dysfunction,
presents with a sore throat of short
duration. Examination reveals swollen
and painful fauces.

Incorrect - The correct answer is

Agranulocytosis

Carbimazole therapy may result in

agranulocytosis and occasionally in an
aplastic crisis.

A 30-year-old woman presents to the

gynaecology clinic with menorrhagia of
two years duration and also complains of
tiredness and lethargy.

Correct
Iron deficiency anaemia is the most
common form of anaemia. The causes of
iron deficiency are too little iron in the
diet, poor absorption of iron by the body,
and loss of blood including from heavy
menstrual bleeding.

A 60-year-old male who has a 6 year

history of chronic lymphocytic
leukaemia presents with symptomatic
anaemia. His investigations reveal warm
agglutinins, high lactate dehyrogenase
and low haptoglobulin levels.

Correct
Auto-immune haemolytic anaemia may
complicate CLL. Warm agglutinins are
IgG antibodies that react with protein
antigens on the RBC surface at room
temprature causing haemolysis.

A 14 year Nigerian boy complains of

periodic bone pain and abdominal pain.

Correct

Sickle cell anaemia is an inherited

autosomal recessive disease seen
predominantly in those of African
descent. Red blood cells, normally discshaped, become crescent shaped. As a
result, they function abnormally and
cause small blood clots. These clots give
rise to recurrent painful episodes or vasoocclusive crisis. Although sickle cell
disease is inherited as disease. Symptoms
usually don't occur until after 4 months
of age. Sickle cell anaemia may become
life-threatening when damaged red blood
cells break down (hemolytic crisis),
when the spleen enlarges and traps the
blood cells (splenic sequestration crisis),
or with bone marrow failure (aplastic
crisis). Repeated crises can cause
damage to the kidneys, lungs, bones,
eyes, and central nervous system.
Management of acute crisis involves
adequate analgesia, rehydration and
treatment of any infections. Patients
require long term supplementation with
folic acid.
Diagnosis of anaemia and its classification
40-year-old Afro-Caribbean man is seen
with mild bilateral pedal oedema. His
blood pressure is 200/130mmHg and his
blood film suggests a normocytic,
normochromic anaemia.

Correct
Chronic renal failure associated with
severe hypertension is commoner in the
Afro-Caribbean population. They usually
present late with hypertension, anaemia,
uraemia and bilateral small kidneys on
ultrasound scanning.

A 78-year-old man is seen with a

bleeding diathesis. He is anaemic and
has a large palpable spleen. Bone
marrow aspirate failed on two occasions.
A trephine biopsy showed very few cells
and lots of coarse fibres.

Correct
Chronic idiopathic myelofibrosis
presents with symptoms of marrow
failure, the normal marrow having been
replaced by coarse reticulin fibres. It is
important to exclude systemic disorders
causing secondary myelofibrosis like
metastatic carcinomas and irradiation.

A 56-year-old woman had terminal ileum

resection due to Crohns disease and was
lost to follow up. She presents on this
occasion with difficulty walking. She is
anaemic and has lost position sense
bilaterally.

Correct
Vitamin B 12 deficiency can present with
neurological signs including symmetrical
peripheral neuropathy, ataxia and later
pyramidal tract signs. Vitamin B12 is
absorbed in the terminal ileum. A high
mean corpuscular volume, low serum
vitamin B12 levels in the absence of
intrinsic factor antibodies will establish
the diagnosis.

A 55-year-old man is brought in with a

six month histroy of deteriorating fatigue
and weight gain. He is anaemic,
jaundiced, has spider naevi and
gynaecomastia.

Correct
Anaemia in chronic liver disease can be
due to ruptured oesophageal varices
(acute blood loss), bleeding peptic ulcers
or bleeding gastritis. It can occur
chronically, as in this case in association
with chronic GI losses and as a
consequence of cirrhosis plus alcoholic
effects on the marrow.

A 10-year-old girl of African descent is

brought to the emergency room
complaining of extreme fatigue and
listlessness. She is small for her age, has
gnatopathy and is jaundiced. She admits
to passing dark coloured urine.

Correct
.Sickle cell disease is common in people
of African descent. They usually have a
chronic haemolysis but can develop a
brisk fatal haemolysis (the hyper
haemolytic crises) in response to
infections or low oxygenation states
A 70-year-old man presents with low
back pain, tiredness and headaches. A
skull x-ray reveals numerous punched
out lesions.

Correct
Plasma cell neoplasm which produces
infiltration of bone marrow and
osteolytic deposits. Proliferation of
specific immunoglobulin or light chains
are noted. Presentation with bone pain,
lassitude resulting from anaemia and
renal complications as well as signs of

hyperviscosity are noted. The peak age

of disease is 70 years. Common test
abnormalities are hypercalcaemia, high
ESR, high urate, renal impairment and
low Hb. Punched out lesions are seen on
skull X-ray, so called 'pepper-pot skull'.

A 55-year-old woman reports her vision

as 'looking through a wet car
windscreen'. She has headaches and is
tired

Incorrect - The correct answer is

Waldenstrom's Macroglobulinaemia
Visual disturbance, retinal haemorrhage,
headaches, and GI bleeding characterise
this condition.

A 60-year-old man with right temporal

headache and jaw claudication.

Correct
Giant cell arteritis symptoms include
headaches, polymyalgia, temporal artery
tenderness (on combing hair) jaw
claudication, amaurosis fugax and
blindness. High ESR, CRP, Alkaline
phosphatase but low Hb are the common
test abnormalities seen. Treatment is with
high dose steroids.

A 75-year-old man presents with a 3

month history of low back pain and
haematuria. Pelvic x- ray revealed
osteosclerotic lesions

Correct
Metastatic prostatic neoplasia is
suggested by hypercalcaemia,
haematuria and presence of metastases.
Most disseminated malignancies would
result in a high ESR.

A 46-year-old woman with painful rash

on shins and bilateral hilar
lymphadenopathy

Correct
Sarcoidosis is a disease of unknown
cause but characterised by development
of non-caseating granulomas in affected
organs. Most commonly presents in
young adults with fever, polyarthralgia,
erythema nodosum rash on skin and
bilateral hilar lymphadenopathy on CXR.
Other test abnormalities are
hypercalcaemia, and a restrictive
ventilatory defect on lung function tests.
Other organs; eyes, bones, heart, CNS
and kidneys may be affected.

Causes of a high ESR include the

fTheme:Diagnosis of lymphadenopathy
Ametastases
Btoxoplasmosis
CHodgkin's lymphoma
Dchronic lymphatic leukaemia
Einfectious mononucleosis
Fsarcoidosis
GStill's disease
Hacquired human immunodeficiency
syndrome
Isyphilis
Jbrucellosis
Ktuberculosis

For each case below, choose the

SINGLE most likely cause from the
above list of options. Each option may be
used once, more than once, or not at all.
A 65-year-old man is found to have
hepatosplenomegaly, with widespread
lymphadenopathy. His full blood count
revealed anaemia, thrombocytopenia and
leucocytosis, with lymphocytosis,. There
were smear cells on blood film.

Correct
CLL occurs mainly in older people and is
due to uncontrolled proliferation and
accumulation of mature B lymphocytes
(rarely T cells). Lymphocytosis: WBC>
15 x 109/Litre of which 40% are
lymphocytes. Leads to painless
lymphadenopathy, hepatosplenomegaly,
anaemia (autoimmune haemolysis/ bone
marrow failure), thrombocytopenia and
infections (neutropenia with or without
reduced immunoglobulins). Blood film
shows lymphocytes and smear cells.
Treat (chlorambucil most often used)
when symptomatic or evidence of bone
marrow failure, hypersplenism (may
need splenectomy) or autoimmune
haemolytic anaemia or
thrombocytopenia (corticoste

A 22-year-old woman presents with

pruritis, night sweats and right cervical
lymphadenopathy. Her lymph node
biopsy has shown Reed-Sternberg cells.

Correct
Reed-Sternberg cell (multinucleate and
polyploid) is central to diagnosis of
Hodgkin's lymphoma . Most patients

present with painless, non-tender

lymphadenopathy. 'B' symptoms include
fever (Pel-Ebstein fever = spiking
temperature), night sweats and weight
loss of >10% body weight. Pruritis
occurs in 25% cases. Also alcohol
induced pain of lymph nodes.

A 75-year-old Asian man complains of a

dry cough, weight loss and night sweats.
There is some tender lymph nodes in the
right supraclavicular fossa. His chest Xray has shown cavitating lesions in the
right upper lobe.

Correct
Cavitating lesions in lungs caused by
carcinoma, abscess (Staphylococcal,
Klebsiella infections, TB), lymphoma,
rheumatoid nodule or Wegener's
granulomatosis. The sweats and fever
suggests infection, and the ethnic origin
raises strong possibility of TB. Swelling
of neck nodes is sometimes associated
with pulmonary TB.

A 37-year-old farmer presents with a

gradual onset of malaise, headaches,
myalgia and night sweats. He has
lymphadenopathy and hepatomegaly. His
chest X-ray is normal. His 2mercaptoethanol test is positive.

Correct
Elevated serum IgG detected by
extraction with 2-mercaptoethanol (2ME) is evidence of current or recent
infection with Brucellosis. The
occupation should have been a clue.

Brucella is Gram -ve coccobacillus.

Acute brucellosis has insidious onset
with malaise, headache, night sweats.
There is lymphadenopathy,
hepatomegaly, splenomegaly (in severe
infections) and sometimes orchitis,
osteomyelitis, meningoencephalitis and
endocarditis. Treat with tetracycline with
rifampicin (or septrin).

A 34-year-old woman is admitted with

painful red lesions on her shins and
bilateral hilar lymphadenopathy. She is
well apart from mild breathlessness.

Correct
Bilateral hilar lymphadenopathy is
characteristic of sarcoidosis. Acute
sarcoidosis associated with erythema
nodosum has a good prognosis, and often
does not require any treatment.
ollowing...

Normal ranges:
Haemoglobin (Hb) 12-18 g/dL
MCV
80-95 fL
White cell count (WCC) 4-11 x 109/L
Platelets
150-400 x109/L
A 54-year-old male presents with
concerns over his drinking and its effects
on his work. He confesses to a long
history of alcohol abuse and has spider
naevi on his chest.

Correct

With alcohol excess, a high MCV would

be expected as the alcohol has an effect
on the alkaline phsophatase in the RBC
membrane producing a relative swelling
of the cell - macrocytosis.

A 55-year-old female presents with

tiredness and dyspepsia. She has been
taking brufen for osteoarthritis of the
right hip. On further questioning she
states that she has recently noted that her
stools are darker.

Correct
With chronic blood loss as suggested
here, probably due to NSAID induced
peptic ulceration, an iron deficiency
anaemia would be expected with a low
MCV and Hb.
FBC is one of the commonly requested investigations and its interpretation can reveal
much about the patient.
Normal ranges:
Haemoglobin (Hb) 12-18 g/dL
MCV
80-95 fL
White cell count (WCC) 4-11 x109/L
Platelets
150-400 x109/L
A 62-year-old male with type 2 diabetes
and advanced diabetic nephropathy
presents with tiredness. He is pale and
has a brownish tinge to his complexion.

Correct
The 62-year-old male with advanced
diabetic nephropathy is likely to have the
anaemia of chronic disease associated

with an erythropoietin deficiency

normochromic normocytic anaemia.
Hence, Hb is low and MCV is normal.

A 22-year-old Asian female attends

antenatal clinic for the first time. She is
well apart from occasional vomiting and
informs you that she has been diagnosed
with a thalassaemia trait.

Correct
The thalassaemia trait may only be
picked up on a routine blood test and is
reflected by an often normal Hb with low
MCV. The prevalence of the trait in some
populations is around 5%, with the
commonest being the beta thalassaemia
triat.
A 66-year-old female vegan presents
with tiredness, confusion and weight
loss. She has a yellowy tinge to a pale
complexion and has a peripheral
neuropathy.

Correct
Pernicious anaemia associated with low
vitamin B12 or low B12 from whatever
cause produces interruption in the
synthesis of all blood components.
Hence there may be a pancytopaenia
with macrocytosis (megablastic
anaemia). Treatment is with parenteral
B12. Other associated features include
heart failure and abnormal neurology
such as a peripheral neuropathy and
spastic paraparesis.

A 52-year-old male presents with

headaches and tiredness. He is a smoker
of 40 cigarettes per day. He is obese and
has a markedly plethoric complexion.

Incorrect - The correct answer is Hb

18.5, MCV 88, WCC 10.2, platelets 450
The features of polycythaemia include
headache and tiredness. In this patients
case the condition may be primary or
secondary although the latter is
suggested by the obesity and smoking.
Primary polycythaemia is a
myeloproliferative disorder and
splenomegaly may be a distinguishing
clinical sign.
Theme:Diagnosis of neonatal jaundice.
AABO incompatibilty
BBreast milk jaundice
CCephalhematoma
DDrug allergy
EExtrahepatic biliary atresia
FGalactosaemia
GG6PD Deficiency
HNeonatal sepsis
IPhysiological jaundice
JRH Incompatibility
For each of these jaundiced babies below
choose from the list above the single
most likely diagnosis. Each option may
be chosen more than once or not at all.

A mother has blood group A Rhesus

positive. Her baby is blood group B
Rhesus negative.

Correct

This mother would produce antibodies to

the baby's B blood group and hence
haemolysis with jaundice occurs.

A neonate is severely jaundiced with

reducing substances noted on urine
dipstick.

Correct
A typical picture of . In the newborn
period, infants present with an acute
encephalopathy. In untreated patients,
there is severe liver disease, mental
retardation, epilepsy and choreoathetosis.

A 4 day old baby is well but has a tinge

of jaundice.

Correct
Common in the first week of life.

A breast fed 3 week old baby has mild

jaundice but is gaining weight
satisfactorily.

Correct
Common from the 2nd to 5th days of
life.

A 12 day old baby is jaundiced with pale

stools.

Correct
. is a progressive inflammatory process
that begins very soon after birth. On
average, there is one case of biliary
atresia out of every 15,000 live births.
Females are affected slightly more often
than males. In the United States,
approximately 300 new cases are
diagnosed each year.
Theme:Diagnosis of bleeding diathesis.
AActivated Partial Thromboplastin Time
(APTT)
BBleeding Time (BT)
CFactor VIII antigen
DFactor VIII level
EProthrombin Time (PT)
FPlatelets count
GPlatelets function
HVitamin B1 deficiency
IVitamin B6 deficiency
JVitamin C deficiency
For each patient below presenting to you
with bleeding, choose the SINGLE most
probable diagnosis from the above list of
options. Each option may be used once,
more than once or not at all.
A 4-year-old child presents to A+E with
spontaneous bleeding into both knee
joints. He has had a number of
admissions relating to bleeds previously.

Correct
A normal PT and platelet count but
prolonged APTT are characteristic of
haemophilia. However this pattern is also
seen in atniphosholipid syndrome,
heparin therapy. Diagnosis is clinched by
the factor VIII assay.

A 10 month old baby is very ill with

fever, bloody stools and is bleeding from
venepuncture sites. Prothrombin time
and APTT are elevated.

Correct
Dessiminated intravascular coagulation.
Platelet count is low. PT, APTT and
fibrin degradation products are elevated.
Schistocytes may be seen in the
peripheral blood film.

A 34-year-old woman presents with easy

bruising and bleeding from
oropharyngeal, vaginal and lower gut
mucosae. Prothrombin time, platelet
count and function are normal but APTT
and bleeding time are prolonged

Correct
Von willebrands disease is the most
common inherited bleeding disorder.
Mucocutaneous bleeding occurs when
VWF is low. Pregnancy, oral
contraceptives and liver disease increase
VWF levels and in such situations repeat
testing is necessary.

A 24-year-old homeless man is listless,

cachetic and anorectic. He is bleeding
from his painful gums and nose. He has
small haemorrhages around hair follicles
and cockscrew hairs.

Correct

Vitamin C deficiency is usually dietary

in origin. Bleeding could also be into
Joints, bladder and gut. No test is
completely satisfactory, but WBC
ascorbic acid is low. Treatment is with
oral ascorbic acid and dietary
improvement.

A 60-year-old man with a history of

atrial fibrillation, diagnosed at the time
he suffered a stroke, 5 years ago,
presents with acute back pain which
radiates into his leg. He is diagnosed
with a spontaneous haematoma of the
right psoas muscle. APTT is normal

Correct
Prolonged PT and deranged clotting due
to warfarin therapy. Treatment is with
vitamin K, Fresh frozen plasma is
administered in severe condtions.
Which of the following statements
regarding thrombocytosis is correct?
(Please select 1 option)

The commonest cause is Essential Thrombocythaemia

Incorrect answer selected
Occurs exclusively in essential thrombocythaemia
Erythropoietin is the key hormone in the regulation of
megakaryocyte differentiation
May occur as a response to exercise This is the correct answer
Secondary thrombocytosis is an indication for hydroxycarbamide
therapy
The commonest cause of thrombocytosis
is a reactive thrombocytosis.
Thrombocythaemia may occur in any of
the myeloproliferative disorders,
particularly PRV. Thrombopoietin is the
key hormone in the regulation of
megakaryocyte differentiation.
Secondary thrombocytosis does not place

the patient at risk for haemostatic nor

cardiovascular events
A 28-year-old man presented with
recurrent nose bleeds and iron deficiency
anaemia. A Chest X-ray found a shadow
over the right lung base and auscultation
in this area revealed a bruit. Which of the
following is the most likely diagnosis?
(Please select 1 option)

Ehlers-Danlos syndrome
Hereditary haemorrhagic telangiectasia Correct
Idiopathic thrombocytopaenic purpura
von Willebrand's disease
Wegener's granulomatosis
This is heriditary haemorrhagic
telangiectasia (Osler-Weber-Rendu
syndrome) characterised by bleeding
from telangiectasia on mucuous
membranes such as the nose, mouth and
GI tract. Clinical examination reveals
telangiectasia on the skin. AV
malformation may be seen in the lung (as
in this case) or brain. Read more ...
An 18-year-old male with sickle cell
disease presents with severe abdominal
pain. His blood pressure is 180/100
mmHg, heart rate 110 bpm, and
temperature 38.0oC.
What is your first action?
(Please select 1 option)

AXR
CXR
IV Normal saline Correct
IV Benzylpenicillin 2.4g
Urgent surgical consult
Intravanous fluids and analgesia, usually
with opiates, are the cornerstones of the
management of sickle cell crisis.
Antibiotics should then be considered
specifically to cover Haemophilus

influenzae type b, Mycoplasma

pneumoniae and Pneumococcus, with for
example ceftriaxone, erythromycin and
cefuroxime respectively. One should also
consider that these patients may also
develop appendicitis, like any other
young patient, so a surgical consult may
be required as appropriate.
Approximately 8-10% of the African
population carry the sickle cell gene.
Homozygous (SS) sickle disease occurs
in about 0.15% of patients of African
origin. Nowadays the prognosis of sickle
cell disease is good, with approximately
50% of patients surviving beyond the
fifth decade.
A woman of 35 with is referred with a
microcytic anaemia. She has a history of
Ulcerative colitis. She has the following
results:
Hb
8.8 g/dL (12-16)
WCC
3.6 x109/L (4-11 x109)
Platelets 222 x109/L (150-400 x109)
MCV
70 fL (80-96)
Haptoglobins <0.04 g/L (0.13-1.63)
LFTs
Lactate Dehydrogenase
Bilirubin
Alkaline Phosphatase
ALT

850 U/L (100-250)

68 mol/L (1-22)
100 U/L (45-105)
23 U/L (5-40)

What investigation would confirm the

underlying diagnosis?
(Please select 1 option)

Direct Coomb's test This is the correct answer

Indirect Coomb's test
Blood film Incorrect answer selected
Fibrin degradation products
Ultrasound scan

This is autoimmune haemolytic anaemia,

a rare complication of salazopyrin
therapy. Indeed there are relatively few
patients with IBD on this drug now. The
sulphasalazine drugs are much more
common. A direct Coomb's test looks for
erythrocytes already coated with
antibody, whereas the indirect test is
used to detect potential red cell antibody
interactions.
Next question

A 50-year-old woman with a long

history of alcohol abuse is prescribed
Phenytoin for epilepsy. Examination was
normal except for a liver edge. Her full
blood count reveals:
Haemoglobin 10.0 g/dL (11.5-16.5)
MCV
122 fL (80-96)
White cell count 2.2 x109/L (4-11 x109)
Platelet count 85 x109/L (150-400 x109)
What is the most likely explanation for
these results?
(Please select 1 option)

Alcoholic liver disease

Aplastic anaemia
Folic acid deficiency Correct
Hypothyroidism
Vitamin C deficiency
Folic acid deficiency would give all
these results. In addition she has good
reason to be folate deficient- drinks a
considerable amount and is on
anticonvulsants.
Alcoholic liver disease, on its own would
not make you leucopenic.
Hypothyroidism, would cause a raised
MCV, but not the other parameters.
Scurvy does not cause this picture.
Aplastic anaemia could cause this

haematological picture, but the clinical

scenario leads you towards folic acid
deficiency.
A 75-year-old retired journalist is
referred to the out-patient clinic with a
three month history of weakness,
malaise, unsteadiness, dizziness,
headaches and several episodes of
epistaxis.L
On examination she was pale but
otherwise no obvious abnormalities were
found.
Investigations reveal
Haemoglobin 10.3g/dL (11.5-16.5)
White cell count 11.2 x109/L (4-11 x109)
Platelets
219 x109/L (150-400 x109)
Na
134 mmol/l (137-144)
K
4.3 mmol/l (3.5-4.9)
Urea
6.8 mmol/l (2.5-7.5)
Creatinine 112 mol/l (60-110)
AST
35 U/L (1-31)
Bilirubin
15 mol/L (1-22)
Alkaline phosphatase 98 U/L (60-110)
Albumin
31 g/L (37-49)
Total protein
110 g/L (61-76)
CRP 11g/L (<10)
ESR 112 mm in the first hour (0-30mm/1st hour)
Further results:
IgG
9.9g/l (7.2-19)
IgA
1.3g/l (0.8-5.0)
IgM
43g/l (0.5-2.0) with an IgM paraprotein level of 41g/l
Plasma viscosity 5.9 (1.4-1.8)
Whilst sitting in the department, she
loses consciousness with no warning and
has a grand mal seizure. What is the
optimal treatment?
(Please select 1 option)

Cyclophosphamide

IV phenytoin
Plasmapharesis Correct
60mg Prednisolone
Venesection
Waldenstrom's macroglobulinaemia can
present in this manner with
hyperviscosity symptoms. The correct
treatment is urgent plasmapharesis.
Waldenstrom's macroglobulinaemia is a
lymphoproliferative disorder- a plasma
cell dyscrasia which results in a
monocolonal IgM gammopathy. The
bone marrow, lymph nodes, and spleen
are the organs most often involved.
Pulmonary involvement can also occur.
Waldenstrom's macroglobulinemia has
features in common with myeloma,
lymphoma and chronic lymphocytic
leukaemia, from which it can be
differentiated by serum protein
electrophoresis, which reveals very high
levels of monoclonal IgM. The increased
plasma viscosity (due to aggregation of
rbcs by IgM) presents as mucosal
haemorrhage e.g. epistaxis, visual
abnormalities due to retinal bleeding, as
well as peripheral and central
neurological problems including cerebral
haemorrhage, seizures, chorea and coma.
Peripheral neuropathy can be caused by
anti-myelin activity of the monoclonal
IgM protein. The excess monoclonal
protein in the serum interferes with
normal immunity
32-year-old lady on holiday presented
with a swollen left calf. She says that she
has 'Factor V Leiden mutation'. Which
one of the following is the most
appropriate description of the
pathophysiology of this mutation?
(Please select 1 option)

Activated protein C resistance This is the correct answer

Antithrombin deficiency Incorrect answer selected
Protein C deficiency

Protein S deficiency
Prothrombin mutation
In the normal person, factor V functions
as a cofactor to allow factor X to
generate the active form of an enzyme
called thrombin. Thrombin in turn
cleaves fibrinogen to fibrin, which
polymerizes to form the dense meshwork
that makes up the majority of a clot.
Activated protein C (aPC) is a natural
anticoagulant that acts to limit the extent
of clotting by cleaving and degrading
factor V.
Factor V Leiden is an autosomal
dominant condition in which the
coagulation factor cannot be destroyed
by aPC. Mutation of the gene encoding
factor Va single nucleotide substitution
of adenine for guaninechanges the
protein's 506th amino acid from arginine
to glutamine . Since this amino acid is
normally the cleavage site for aPC, the
mutation prevents efficient inactivation
of factor V. When factor V remains
active, it facilitates overproduction of
thrombin leading to excess fibrin
generation and excess clotting.
A 4-year-old girl presents with fever,
pallor and jaundice. She has had a cold 2
weeks previously. She has previously
been well. Full term normal delivery
with no neonatal complications.
Immunisations up to date. There is no
FH/SH of note.
On examination she has a fever to
37.9C, respiratory rate 18/min and heart
rate 95/min. She has pale conjunctivae
and mildly jaundiced conjunctivae. Chest
and ENT examinations are normal. She
has a 2/6 ejection systolic murmur at the
upper left sternal edge. The spleen is 3
cm, smooth and non-tender. Urine
dipstix contains 2+ blood. Urine
microscopy shows 0 white cells, 0 Red
Cells and no organisms.

What is the most likely diagnosis?

(Please select 1 option)

Haemolytic anaemia, acquired Correct

Haemolytic anaemia, congenital
Infectious mononucleosis
Malaria
Sickle cell anaemia
The picture of antecedent URTI followed
by fever, pallor, mild jaundice and
haemaglobinuria all point to haemolysis
triggered by infection. The likely
diagnosis is an autoimmune haemolysis
due to 'warm' antibodies. The FBC may
show profound anaemia (eg 6 g/dl) with
spherocytes and very high reticulocyte
count. Steroids are usually highly
effective. Autoimmune haemolysis
associated with 'cold' antibodies may be
triggered by Mycoplasma and EBV, with
symptoms worsened by cold.
A 60-year-old woman presents with
acute attacks of painful swelling of the
left side of her face and throat. She also
complains of episodic abdominal pain.
On examination she has splenomegaly.
The most likely diagnosis is?
(Please select 1 option)

CLL Incorrect answer selected

Inherited angioedema
Acquired C1 esterase deficiency This is the correct answer
Sarcoid
Factor H deficiency
This patient has acquired C1 esterase
deficiency; she is too old to present with
inherited angioedema and it doesn't
explain the splenomegaly, which is
probably due to a B cell lymphoma. C1
esterase inhibitor is a member of the
serpin family of protease. This protein is
produced by hepatocytes and inhibits the
catalytic subunits of the first component
of the classical complement pathway

(C1r and C1s). C1 esterase inhibitor also

inhibits the function of kallikrein,
plasmin, and coagulation factors XIa and
XIIa. In C1 esterase deficiency, activated
C1 and plasmin generate activated C2
kinin. Activated C2 kinin results in the
typical angioedema observed in patients
with C1 esterase inhibitor deficiency.
The inherited form of C1 esterase
deficiency usually presents in the first or
second decade. The acquired form
affects adult or elderly patients. Acquired
C1 esterase deficiency presents with
recurrent, localised, subcutaneous
swelling which appears spontaneously
and resolves within hours to days. The
angioedema is not associated with
itching and is often painful. Most
patients have associated low-grade
lymphoproliferative disease. C1q levels
are normal in the inherited form of C1
esterase inhibitor deficiency, they are
decreased in the acquired form. This is
because of the large numbers of immune
complexes associated with the
lymphoproliferative neoplastic process.
These immune complexes consume both
C1q molecules and C1 esterase inhibitor,
resulting in quantitative and functional
deficiency of both proteins
A toddler, who has Von Willebrand's
disease, admitted after a fall from his
bicycle. He has a hemathrosis of his left
knee and bruises on his right lower leg.
What transfusion is indicated?
(Please select 1 option)

Factor IX
Factor VIII concentrate Correct
Fresh frozen plasma
Packed cells
Platelet transfusions
Von Willebrand disease (vWD) is an
autosomally inherited mucocutaneous
bleeding disorder caused by a deficiency
or dysfunction of the protein termed von
Willebrand factor (vWF). Consequently,

primary hemostasis is impaired because

of defective interaction between platelets
and the vessel wall. vWD is divided into
3 major categories: (1) partial
quantitative deficiency (type I), (2)
qualitative deficiency (type II), and (3)
total deficiency (type III). The 2 main
treatment options for patients with vWD
are DDAVP and vWF-containing FVIII
concentrate transfusion therapy. Fresh
frozen plasma contains functional von
Willebrand factor but should be avoided
whenever possible because of the
potential transmission of viral disease.
An additional drawback of fresh frozen
plasma is the large infusion volume
required. Only occasionally are platelet
transfusions required.
A 36-year-old female who is on warfarin
after suffering a deep vein thrombosis,
presents with an INR of 8.2 (NR <1.4)
and a conjunctival haemorrhage.
The blood pressure is 125/55 mmHg,
heart rate is 65 bpm and the ECG reveals
a normal sinus rhythm.
Which of the following is the most
appropriate treatment for this patient?
(Please select 1 option)

FFP Incorrect answer selected

Factor VII
Oral vitamin K 1mg This is the correct answer
Prothrombin complex concentrate
Stop warfarin only
A conjunctival bleed is defined as a
minor bleed, and current guidelines
suggest that oral or IV vitamin K
together with the omission of warafrin, is
the treatment of choice. Local guidelines
should also be available. One must
always weigh up the risks and benefits of
reversing the anticoagulation. The
patient described is at low risk if the
warfarin induced coagulopathy is
reversed. There is no suggestion from the
ECG and the haemodynamic status that

there is pulmonary embolus.

Major bleeds are defined as intraorbital,
intracranial, retroperitoneal or muscular
bleeding causing compartment
syndrome. Any acute bleeding with
BP<90mmHg, oliguria or Hb drop to less
than 9g/l, also count as major bleeding
episodes and require aggressive reversal
of the coagulopathy with vitamin K,
stopping warfarin and prothrombin
complex concentrate or FFP.
A boy is born weighing 2.7kg at
39+2/40. His mother has had 2 previous
children with early jaundice.
He is noted to be pale and jaundiced.
Haemoglobin concentration 6.0 g/dl
reticulocytes 10%. Film shows
polychromasia, nucleated red cells.
Unconjugated hyperbilirubinaemia of
175 micromol/l (0-18). Direct Coomb's
+ve. Mother A-ve, baby O+ve.
What is the most likely diagnosis?
(Please select 1 option)

ABO incompatibility Incorrect answer selected

Alloimmune haemolytic anaemia
Drug-related haemolysis
Hereditary spherocytosis
Rhesus disease This is the correct answer
Early jaundice suggests haemolysis, and
the previous affected babies suggest
isoimmunisation. The positive Coomb's
test and fact that mother is D Rhesus
negative make Rhesus disease most
likely. This is confirmed by testing
specifically for serum anti-D, which is
positive.
Reticulocytes contain residual RNA, and
polychromasia is due to increased blue
staining due to the very high reticulocyte
count.

A young woman presents with pallor,

tiredness and fatigue. Her full blood
count is reported as typical of Acute
Lymphoblastic Leukaemia. Which of the
following is associated with the worst
prognosis in ALL?
(Please select 1 option)

Female sex
Philadelphia chromosome present Correct
Pre-B phenotype
Presentation in childhood
WCC of 21 x 109/L at diagnosis
In Acute Lymphoblastic Leukaemia
Good prognostic factors

FAB L1 type
Common ALL
pre-B phenotype
low initial WBC

Poor prognostic factors

FAB L3 type
B, T cell type
Philadelphia translocation,
t(9;22)
increasing age at diagnosis
male sex
CNS involvement
high initial WBC (e.g. > 100)
A 69-year-old male is seen in
Outpatients. He reports weight loss of 1
stone over 3 months but his history is
otherwise unremarkable. On examination
his abdomen is soft with no palpable
masses. A PR examination is normal. His
blood tests show:
Haemoglobin 8.0 g/dL (12-16)
MCV
70 fL
(80-96)
Which of the following is the most
appropriate investigation for this patient?
(Please select 1 option)

Abdominal X-ray and colonoscopy

CT scan of the abdomen and upper GI endoscopy
Sigmoidoscopy upper GI endoscopy
Ultrasound scan of abdomen and colonoscopy
Upper GI endoscopy and colonoscopy Correct
This man has weight loss and an
unexplained microcytic anaemia. The
likely site of blood loss is from the GI
tract in absence of an alternative
explanation. This may be due to an
occult GI malignancy and, therefore, the
initial investigations of choice are upper
and lower GI endoscopy
Which of the following statements
regarding iron metabolism is incorrect?
(Please select 1 option)

Iron absorption is increased by vitamin C and in iron deficiency

Usually only 5-10% of dietary iron is absorbed in the portal
circulation
One unit of blood contains 200mg of iron
In iron deficiency anaemia total iron binding capacity and
transferrin saturation will both be decreased Correct
A normal ferritin does not exclude a diagnosis of iron deficiency
In the normal situation only 5-10% of
iron is absorbed via the portal
circulation. Iron absorption can be
increased by more animal foods, vitamin
C, sugars and amino acids and in iron
deficiency. One unit of blood does
indeed contain 200mg of iron, this
compares with 60mg of iron in a 200mg
ferrous sulphate tablet. In iron deficiency
serum total iron binding capacity is
increased and transferrin saturation is
reduced. Ferritin is usually reduced in
iron deficiency but as it is an acute phase
protein it may be elevated and be falsely
normal in inflammatory or malignant
disorders
A 48-year-old woman with chronic
pancreatitis due to gallstones is noted to

have a macrocytic anaemia. What is the

most likely cause of the anaemia?
(Please select 1 option)

Bone marrow dysfunction

Folate deficiency
Hyposplenism
Hypothyroidism
Vitamin B12 deficiency Correct
Chronic pancreatitis and the resultant
pancreatic insufficiency results in the
failure of splitting of dietary B12 from
R-binders,a reaction that requires trypsin.
This inhibits the binding of intrinsic
factor to the Vitamin B12, so it is not
absorbed.
Which of the following patient requires
the highest level of anticoagulation?
(Please select 1 option)

Bioprosthetic valve implantation in aortic position with chronic

atrial fibrillation
Non-valvar atrial fibrillation with previous embolic stroke
Incorrect answer selected
Severe mitral stenosis with atrial fibrillation
Starr Edwards valve in the mitral position in sinus rhythm This is
the correct answer
St Jude (bi-leaflet) valve in mitral position in sinus rhythm
The old generation of ball and cage-type
mechanical prostheses are most
thrombogenic and need high levels of
anticoagulation (INR 3.5 to 4.5). The
newer bileaflet prosthetic valves (St.
Jude) require less anticoagulation (INR
2.5 to 3.5). As a general rule, mitral
prostheses are more likely to thrombose
than aortic prostheses and so need
greater levels of anticoagulation. Nonvalvar AF needs moderate levels of
anticoagulation (INR 2 to 2.5).

A 78-year-old female who is on warfarin

for atrial fibrillation presents with
melaena. The blood pressure is 90/60
mmHg and the heart rate 100 bpm.
Investigations show:
Haemoglobin 9g/l (12-16)
MCV
87 fl (83-95)
INR
7.2 (<1.4)
A PR examination confirms melaena.
Which is the best option for correcting
the coagulopathy?
(Please select 1 option)

FFP
IV Vitamin K
Stop warfarin and give IV Vitamin K Incorrect answer
selected
Stop warfarin and give IV Vitamin K and Prothrombin complex
concentrate This is the correct answer
Stop warfarin
This patient is hypotensive and
tachycardic with melaena suggesting a
major bleeding episode on warfarin. In
these circumstances, current guidelines
suggest stopping warfarin, giving IV
vitamin K, and either FFP, or
Prothrombin complex concentrate. Local
guidelines will be available, and if in
doubt consult with the haematologist on
call. FFP may not completely reverse the
effects of warfarin, so it may now be
preferable to consider Prothrombin
complex concentrate (PCC) if available.
The rate of fatal haemorrhage in patients
receiving warfarin approaches 1%. It is
therefore essential that knowledge
regarding the reversal of warfarin
coagulation is serviceable.
A 19 year-old student complains of
involuntary movements of her hands.
You diagnose chorea which of the
following investigations is not
indicated:-

(Please select 1 option)

Haemoglobin electrophoresis
Antinuclear antibodies
Antistreptolysin O titre
Serum caeruloplasmin levels
B12 levels Correct
The movement disorder is chorea. Sickle
cell disease is associated with moya
moya which is a recognised cause. SLE,
rheumatic fever, and Wilson's disease are
all associated with chorea; B12
deficiency isn't.
Which of the following conditions is
NOT associated with hyperuricaemia?
(Please select 1 option)

Lesch-Nyhan syndrome
Thiazide diuretic therapy
Secondary Polycythaemia This is the correct answer
Severe exfoliative psoriasis
Low dose aspirin therapy Incorrect answer selected
Uric acid is the final product of purine
metabolism. Approximately 70% of the
urate produced daily is excreted by the
kidney, while the rest is eliminated by
the intestines. Increased uric acid may be
due to: decreased excretion (under
excretors) increased production
(overproducers) or a combination of
these 2 mechanisms. Decreased uric acid
excretion can result from a decreased
glomerular filtration, decreased tubular
secretion, or increased renal tubular
reabsorption. Causes are: renal
insufficiency acidosis - diabetic
ketoacidosis, ethanol, starvation ketosis.
Accumulation of organic acids compete
with uric acid for renal tubular secretion.
Diuretic therapy leads to enhanced renal
tubular reabsorption of uric acid. Low
dose aspirin leads to inhibition of uric
acid secretion. Low dose aspirin is
associated with hyperuricaemia, whereas
high dose aspirin can have a therapeutic

effect in gout. Diabetes insipidus leads to

enhanced renal tubular reabsorption of
uric acid. Increased production of uric
acid accounts for only a minority of
patients presenting with hyperuricemia.
Causes are: increased intake in the diet
increased purine nucleotide breakdowndue to rapid cell proliferation e.g. blast
crisis of leukaemias, increased cell death,
rhabdomyolysis, severe psoriasis,
cytotoxic therapy, enzymatic defects (eg
Lesch-Nyhan syndrome - an inherited Xlinked disorder due to a deficiency of
HGPRT - an enzyme that catalyses the
conversion of hypoxanthine to inosinic
acid. The deficiency of HGPRT
accelerates purine biosynthesis with a
resultant increase in uric acid production.
In addition to arthropathy and
obstructive nephropathy, these patients
develop a neurologic disorder that is
characterised by choreoathetosis,
spasticity and occasionally self
mutilation.) Glycogenoses types III, IV,
and VII can result in hyperuricaemia due
to excessive degradation of skeletal
muscle ATP. Secondary polycythaemia is
not associated with hyperuricaemia
unlike primary polycythaemia.
A 4 week old baby presents with pallor.
Term 3.2kg no complications. On
examination she looks sallow but
otherwise well. Haemoglobin 7.3g/dl,
White cell count 8.4x109/l, Platelets
235x109/l, Reticulocytes 4%, Coombs
positive. Mothers group O positive,
infant A positive. Total serum Bilirubin
45 micromol/l, conjugated bilirubin 8
micromol/l. Other Liver function tests
normal.

Incorrect - The correct answer is

ABO incompatibility
In the 4 week old baby there is evidence
of haemolysis, and, since mother and

baby share the same rhesus type, ABO

incompatibility is most likely.

A 5-year-old girl with known Still's

disease for 2 years presents with pallor.
Haemoglobin 8.5 g/dl, White cell count
7.9x109/l Platelets 434x109/l, MCV 81
with Reticulocytes 1.1%.

Correct
In the 5-year-old girl, anaemia of chronic
disease is most likely, though NSAIDs
may be responsible for blood loss.

A 6-year-old girl presents with pallor and

bruising. Haemoglobin 7.3 g/dl, White
cell count 2.3x109/l, Platelets 84x109/l.
Blood film: No blasts seen. Reticulocytes
0.4%. Bone marrow is hypocellular.

Correct
In the 6-year-old girl there is
pancytopaenia. This is most likely
aplastic anaemia, though an aplastic
presentation of leukaemia is also
possible.

In the investigation of anaemia an FBC,

film and reticulocyte count are often
sufficient for diagnosis. If reticulocyte
count is <2% then underproduction is
present. The MCV helps to divide this
into low, normal and high MCV groups.
If reticulocyte count is >2% then
consumption is present, with haemolysis
or blood loss being the two groups to
consider

A 3-year-old girl presents with pallor and

marked gland enlargement. She has been
unwell for the past 3 weeks. Full term
normal delivery, no neonatal problems.
Immunisations up to date. No family or
social history of note.
On examination the temperature is
37.6C, and she looks pale and unwell.
She has a few petechiae on the neck and
palate, with moderate generalised
lymphadenopathy and an 3 cm spleen.
What is the most likely diagnosis?
(Please select 1 option)

Acute leukaemia Correct

Cough petechiae
HIV
Idiopathic thrombocytopaenic purpura
Non-Hodgkin Lymphoma
The history is of enlarged
reticuloendothelial system with
abnormalities in all 3 cell lines of the
bone marrow (pallor, fever and
petechiae). The most likely diagnosis is
therefore acute (lymphoblastic)
leukaemia. Lymphadenopathy may be
prominent: mediastinal nodes are
characteristic of T-cell leukaemia.
A 24-year-old man with a year's history
of ITP was initially treated with IVIG to
which he had an anaphylactic response.
He is now maintained on low dose
prednisolone and azathioprine. He
presents with recurrent pneumonia and a
prolonged diarrhoeal illness. What is the
most likely cause of his recurrent
infections:(Please select 1 option)

Drug related immunosuppression Incorrect answer selected

HIV
Ig A deficiency This is the correct answer

Common variable immunodeficiency

Ataxia telangiectasia
The most likely cause of his recurrent
infections is IgA deficiency. IgA is the
predominant immunoglobulin in external
secretions- breast milk, saliva, and the
mucosa of the bronchial, genitourinary
and gastrointestinal tracts. In the serum,
IgA exists mainly as a monomer but can
also exist as dimers, trimers or tetramers.
IgA in the external secretions exists as a
dimer or tetramer. Polymerisation is
required for transport across epithelia.
IgA deficiency is the commonest
humoral immunodeficiency with an
incidence of 1:700 in Caucasian
populations. Patients are often
asymptomatic. Presentation tends to be
with mild recurrent respiratory infections
and chronic diarrhoea reflecting the
important role of IgA in mucosal
immunity. There is an increased
incidence of atopy and autoimmunity (eg
RA, SLE, thyroiditis). Autoantibodies
(organ specific and non specific) are
often found even in the absence of
clinical desease. Anti-IgA antibodies
occur in 30%-40% of people, and these
may cause anaphylaxis if transfusions of
blood products or immunoglobulin are
administered. The defect in this
syndrome is a block in differentiation of
IgA-expressing B-cells to antibody
secreting plasma cells. Management is
with prophylactic antibiotics and prompt
treatment of infections.
A 7-year-old girl presents with a 3 day
history of rash and ankle swelling. She
had a cold 4 weeks previously, but has
otherwise been healthy. 39+1/40, 2.96kg.
No neonatal problems. No drugs or
medications. Fully immunised.
On examination she has palpable nonblanching purple spots 1-4 mm in
diameter especially over the shins and

buttocks. Her left ankle is swollen, warm

and tender, with restricted movement.
What is the most likely diagnosis?
(Please select 1 option)

Acute lymphoblastic leukaemia

Child physical abuse
Henoch Schonlein purpura Correct
Idiopathic Thrombocytopaenic Purpura
Pneumococcal septicaemia
The history is of preceding URTI
followed by vasculitis on the shins and
buttocks, and ankle swelling. This is
classical of Henoch-Schonlein purpura.
The pathological lesion is a vasculitis,
hence the lesions are often palpable. In
contrast thrombocytopaenic purpura are
not raised. The classical features are
rash, joint swelling, haematuria, and GI
symptoms (vomiting, abdominal pain,
PR bleeding, occasional
intussusception).
Next question

A 17-year-old woman with nonHodgkins lymphoma underwent

splenectomy for haemolytic anaemia.
She understood that she had an enhanced
risk of developing overwhelming
pneumococcal sepsis and wished to
know how long this risk would persist.
What is the duration of the risk?
(Please select 1 option)

Up to 6 months
Up to 1 year
Up to 5 years Incorrect answer selected
5 to 10 years
More than 10 years This is the correct answer

The risk is thought to persist lifelong,

and lifelong Penicillin prophylaxis is
recommended.
Next question

A 3-year-old child presents with

bruising to the casualty department.
Mother says that this appeared yesterday.
He was born at 32+2/40 gestation
weighing 1.54kg. He required ventilation
for SDLD, then home oxygen for chronic
lung disease. He was operated on for
NEC. Subsequently he was admitted
with failure to thrive, and mother was
treated for postnatal depression. He is
one of 3 children, all under 5 years. Both
parents are unemployed.
On examination he looks weepy and
suspicious. He is on the 2nd centile for
height and the 0.4th centile for weight.
He has Harrison's sulci. Temperature is
36.5oC, RR 20/min and HR 95/min.
Chest is clear and there is no murmur. He
has three purple linear bruises over his
back and thighs 5, 5.5 and 7 cm long.
What is the most likely diagnosis?
(Please select 1 option)

Acute lymphoblastic leukaemia

Child physical abuse Correct
Henoch Schoelein purpura
Idiopathic Thrombocytopaenic Purpura
Meningococcal septicaemia
This is a vulnerable child with fresh
bruising and an inconsistent history. The
pattern of bruising suggests the use of a
strap or belt. The diagnosis is child
physical abuse until proven otherwise.
It is important to familiarise yourself
with the local procedures for managing
such cases. Involve your seniors.
Remember to record and sign your
findings in detail, including verbatim

record of what mother has said,

measurements and photographs of
physical findings. Clotting should be
checked and consideration given to
doing a skeletal survey.
A 10 month old afro-caribbean boy
presents with painful swelling of the
hands and feet. This has worsened over
the past 6 hours, making him distressed
and weepy. Full term normal delivery, no
neonatal problems. Immunisations up to
date. Mother is known to have Sickle
trait.
On examination he is apyrexial, with
respiratory rate of 30/min and pulse of
105/min. There is symmetrical swelling
of the hands and feet, which are painful
to touch. His spleen is 3cm below the
costal margin.
What is the most likely diagnosis?
(Please select 1 option)

Haemophilia A
Kawasaki disease
Reactive arthritis
Septic arthritis
Sickle cell crisis Correct
The history of symmetrical painful
swelling of hands and feet in an afrocaribbean child suggests Sickle cell
dactylitis ('Hand and foot syndrome'),
which is often the first manifestation of
sickle cell disease. It is due to ischaemic
necrosis of the long bones at the bone
marrow expands. Haemaglobin
electrophoresis confirms the diagnosis.
Oxygen and analgesia should be given.