Case summary

Patient : a 33 year old male.

History :
Past medical history
HIV
Hepatitis B
Hepatitis C
All resulting from multiple blood product transfusions in the 1990s
Past few years
Intermittent episodes of hemoarthroses in both hips and left wrist (treated with
intermittant recombinant factor IX *3,000 units twice a week) - Hemarthrosis (or
haemarthrosis, plural h(a)emarthroses) is a bleeding into joint spaces. It is a
common feature of Hemophilia
Additional medications included an antiretroviral regimen of nevirapine, lamivudine
and tenofovir
A week earlier
Brief hospitalization for community acquired right- lower lobe pneumonia w/c had
been treated with intravenous ceftriaxone and azithromycin, and subsequently w/ a
10 day course of oral levofloxacin
present
Arterior non radiating chest pain, aggravated with cough, and deep respirations
Chest pain (worse in supine position and improved with leaning forward)
Dyspnea on exertion and orthopnea
Family History
Normal coagulation studies
Genetic investigation
XXp-karyotype w/ a deletion of the short arm of one x chromosome (turner
syndrome)
Laboratory test
Factor IX content less than normal.

Pertinent information
Overview Overview Christmas disease
-also called hemophilia B or factor IX hemophilia - is a rare genetic disorder in
which your blood does not clot properly. If you have Christmas disease, your body
produces little or no blood-clotting factor IX, which leads to prolonged or spontaneous
bleeding. The less factor IX your body produces, the worse your symptoms are. Without
treatment, Christmas disease can be fatal.
-A person is born with Christmas disease, although it may not be diagnosed until
later in life. In about two-thirds of cases, Christmas disease is inherited. The other onethird of cases is caused by spontaneous gene mutations that occur for unknown reasons
during fetal development. The disease is almost always exclusive to males.
-How Is Christmas Disease Inherited? The gene responsible for Christmas disease is
carried on the X chromosome. Females have two X chromosomes and males have one X
and one Y chromosome. If a male inherits the faulty gene on his X chromosome, he could
develop Christmas disease. abnormality or absence of the other X chromosome (e.g.
Turners syndrome). If a female inherits the faulty gene on one of her X chromosomes, she will be a carrier for Christmas disease
and may pass the defective gene on to her children. All daughters of a father who has the defective gene will be Christmas disease carriers. A
father does not pass the faulty gene on to his sons. A mother who carries the faulty gene has a 50 percent chance of having a son with Christmas
disease and a 50 percent chance of having a daughter who is a carrier of the disease. (not really important because our patient is male. This info
is only good to know)

What Are the Symptoms of Christmas Disease?

Severe cases of Christmas disease are usually diagnosed before the patient is 1 year old.
Mild cases may not be diagnosed until a child reaches his or her toddler years (or
sometimes even later). In all cases, diagnosis usually happens after abnormal bleeding
from an injury or surgery.
Events that may lead your doctor to suspect Christmas disease include:
prolonged bleeding during circumcision
prolonged bleeding after surgical procedures or tooth extractions
prolonged bleeding from cuts or other wounds
unexplained, excessive bruising
unexplained, excessive and prolonged nosebleeds
unexplained blood in the urine or feces caused by internal bleeding in the
gastrointestinal or urinary tract
internal bleeding that pools in the joints, causing pain and swelling
The following symptoms are usually only present in severe cases of Christmas disease:
unexplained bleeding in the skull after childbirth
spontaneous bleeding for no apparent reason
Individuals with hemophilia B do not bleed faster than unaffected individuals, they bleed
longer. This is because they are missing a protein involved in blood clotting and are

unable to effectively stop the flow of blood from a wound, injury or bleeding site. This is
sometimes referred to as prolonged bleeding or a bleeding episode.

Diagnosing Christmas Disease

If you or your child shows symptoms of Christmas disease, a doctor may order blood
tests to confirm the diagnosis, including:
factor IX test to determine how much of the clotting factor is present in your
blood
activated partial thromboplastin time (APTT) test to detect how fast your
blood clots
prothrombin time test, another test to detect how quickly your blood clots
fibrinogen test to gauge your bodys ability to create a clot

How Is Christmas Disease Treated?

There is no cure for Christmas disease. There are, however, treatments for the condition.
Regular treatment is essential for managing the symptoms of Christmas disease.
Factor IX Injections
Christmas disease can be treated with factor IX injections to prevent or stop bleeding.
The factor IX can be derived from donated human blood or made in a laboratory.
Artificial factor IX is called recombinant factor IX and is generally recommended over
blood-derived factor because it is safer. Blood-derived factor IX may contain dangerous
pathogens, such as hepatitis or HIV. However, the risks of contracting HIV and hepatitis
from factor IX treatment is lower than ever due to improved blood-screening practices.

Wound Treatment
If you have a mild form of Christmas disease, your doctor may give you a product called
desmopressin acetate (DDAVP) to apply to small wounds to stop the bleeding. Larger
wounds and internal bleeding require medical treatment from your doctor.
Preventive Treatment
If you have a severe form of Christmas disease, you may need preventive blood
transfusions to avoid or reduce prolonged and heavy bleeding.If you receive bloodderived factor or blood transfusions, you should be vaccinated for hepatitis B.

https://rarediseases.org/rare-diseases/hemophilia-b/
http://www.healthline.com/health/hemophilia-b#Treatments6

Pathophysiology
Three mechanisms work together to facilitate healing when a blood vessel is injured (Box
1). First, the blood vessel constricts to limit the volume of blood that is lost. Second,
circulating platelets form a plug at the site of injury. Finally, the blood undergoes
coagulation. A number of clotting factor proteins, defined by Roman numerals, must be
activated in sequence for coagulation to take place. This process allows the platelet plug
to be stabilized by a fibrin matrix that is formed over its surface, thereby ensuring that the
vessel wall can heal (Waugh and Grant, 2002).
Factors VIII and IX are only two of the 13 proteins that are involved in the cascade
process of coagulation. If there is an absence or deficiency of any of these proteins the
coagulation process will be initiated but not completed: the platelet plug will remain

unstable and bleeding will continue over a prolonged period of time.

http://www.nursingtimes.net/nursing-practice/specialisms/haematology/haemophiliapathophysiology-and-management/205072.article