Case Report

HEMOPHILIA A
Presenter

: William Omar

Day/ Date

Supervisor in charge : dr. Putri, Sp. A

Introduction
Hemophilia A defined as an X chromosome-linked hereditary disorder
caused by defective synthesis or by synthesis of dysfunctional factor VIII
molecules. The approximate incidence of hemophilia A is 1 in every 5000 to 7000
live male births.1 National prevalence of hemophilia in Indonesia is 0,7 %, whilst
prevalence of hemophilia in North Sumatera is 0,1 per million population.2
Hemophilia A present as excessive bleeding into various organs of the
body. Soft tissue hematomas and hemarthroses leading to severe, crippling
hemarthropathy are highly characteristic of the disease, and they may occur after
trauma or spontaneously.1,3
The laboratory screening test that is affected by a reduced level of factor VIII is
aPTT. In severe hemophilia, aPTT is usually 23 times the upper limit of normal.
Results of the other screening tests of the hemostatic mechanism (platelet count,
bleeding time, prothrombin time, and thrombin time) are normal. The specific
assay for factors VIII will confirm the diagnosis of hemophilia A.3,5
The primary aim of care is to prevent and treat bleeding with the deficient clotting
factor.6 Acute bleeds should be treated as quickly as possible, preferably within
two hours, to avoid bleeding complications.1 Administration of desmopressin
(DDAVP) can raise FVIII level adequately (three to six times baseline levels) to

control bleeding in patients with mild, and possibly moderate, hemophilia A.

Testing for DDAVP response in individual patients is appropriate.6,7
The aim of this paper is to report hemophilia A in 6 year old boy.
Case
Name

: MVN

Age

: 6 yr 3 mo

Sex

: Male

Date of Admission

: 4 June 2015

Chief Complaint

: Left knee swelling

History of disease

: The patient is an already registered patient in Hematooncology unit of RSUP HAM with diagnosis of hemophilia
A. Left knee swelling had been suffered by the patient for
the recent three days. History of gum bleeding was not
found. History of fever was not found. History of nausea
was not found. History of trauma was not found.

Antropometry :
BW : 19 kg

BL : 115 cm

IBW : 20,5 kg
BW/BL: 19/20,5 x 100% = 92,6 %
BW/age: 19/21 x 100% = 90,4 %
BL/age : 115/116,5 x 100% = 98,7 %
Interpretation : normal nutrition status, normal stature.

Prenatal History
Gestation period : 36 months
Birth : spontaneous, crying immediately
BBW :3000 g
BBL : 50 cm
Feeding History
From birth to 6 months

: Breast milk only, >4 times daily

From 6 months to 9 months : Breast milk with rice porridge, three times
daily
From 9 months to 1,5 years : Breast milk with soft rice, three times daily
From 1,5 years until now

: Family food, three times daily

History of Growth and Development

Sitting

: 7 months

Crawling

: 9 months

Standing

: 12 months

Walking

: 14 months

Physical Examination
BW : 19 kg, BL : 115 cm, IBW : 20,5 kg, HA : 6 years
Present status
Consciousness

: GCS 15 (E4 V5 M6)

Body Temperature

: 37,2C.

Anemic (-). Icteric (-). Cyanosis (-). Edema (-). Dyspnea (-).

Localized status
Head : Face : normal appearance
Eye : Light reflex (+/+), isochoric.Pale inferior palpebral conjunctiva (-/-).
Icteric sclera (-/-).
Ear, nose, and mouth were within normal limit.
Neck : Lymph node enlargement was not found.
Thorax: Symmetrical fusiform. No chest retraction. HR: 100 x/i, regular, no
murmur. RR: 22 x/i, regular, vesicular, no rales.
Abdomen: Soupel, liver and spleen unpalpable. Peristaltic (+) normal.
Extremities: Pulse 100x/i, regular, adequate pressure and volume, warm, CRT
<3. Hemarthrosis was found at left knee.
Laboratory Findings:
May, 19th 2015
Parameters
Factor VIII

Value
1,2 %

Normal Value
55-150 %

Factor IX

72,2 %

70-140 %

April, 22nd 2015

Parameters
aPTT

Differential Diagnosis:

Patient
44,8 sec

Control
32,0 sec

Hemophilia A
Hemophilia B
von Willebrand disease
Working Diagnosis:
Hemophilia A
Management:
-

Koate Inj. 500 IU/12 hours for 3 days

Diet with normal food 1500 kkal with 38 g protein

FOLLOW UP
June, 5th 2015
S
Left knee pain, chest hematoma
O
Cons: CM, Temp: 36,9C. BW: 19 kg
Head : Light reflex (+/+), isochoric pupil. Pale inferior
palpebral conjunctiva (-/-). Ear, nose, and mouth was in
normal limit.
Thorax: Symmetrical fusiform. No chest retraction. HR: 94
x/i, regular, no murmur. RR: 22 x/i, reguler, vesicular, no
rales.
Abdomen: Soepel, liver and spleen unpalpable. Peristaltic
(+) normal.
Extremities: Pulse 94 x/i, regular, adequate pressure and
volume, warm, CRT < 3. Left knee pain was found.
Hemophilia A + arthropathy genu (S)
Management:

A
P
-

Injection Koate 500 IU/12 jam/IV (D2)

June, 6th 2015

S
Left knee pain
O
Cons: CM, Temp: 37C. BW: 19 kg
Head : Light reflex (+/+), isochoric pupil. Pale inferior
palpebral conjunctiva (-/-). Ear, nose, and mouth was in
normal limit.
Thorax: Symmetrical fusiform. No chest retraction. HR: 98
x/i, regular, no murmur. RR: 22 x/i, reguler, vesicular, no
rales.
Abdomen: Soepel, liver and spleen unpalpable. Peristaltic
(+) normal.
Extremities: Pulse 98 x/i, regular, adequate pressure and
volume, warm, CRT < 3. Hematoma was found in the left
knee.
Hemophilia A
Management:

A
P
-

Injection Koate 500 IU/12 jam/IV (D3)

Diet with normal food 1450 kkal with 38 g protein

June, 7th 2015

S
Left knee pain no longer found.
O
Cons: CM, Temp: 37,2C. BW: 19 kg
Head : Light reflex (+/+), isochoric pupil. Pale inferior
palpebral conjunctiva (-/-). Ear, nose, and mouth was in
normal limit.
Thorax: Symmetrical fusiform. No chest retraction. HR: 96
x/i, regular, no murmur. RR: 22 x/i, reguler, vesicular, no
rales.
Abdomen: Soepel, liver and spleen unpalpable. Peristaltic
(+) normal.
Extremities: Pulse 98 x/i, regular, adequate pressure and

A
P

volume, warm, CRT < 3.

Hemophilia A
Outpatient

Discussion
Hemophilia A (classic hemophilia) has an estimated frequency of
approximately one in 10,000 births. Hemophilia A is more common than
hemophilia B, representing 80-85% of the total hemophilia population.6
Diagnosis of hemophilia is made by anamnesis, physical examination, and
laboratory findings. History of family member or distant relatives having
hemophilia A may help the diagnosis. All the sons of affected hemophilic males
are normal, whereas all the daughters are obligatory carriers of the factor VIII
defect. Sons of carriers have a 50 percent chance of being affected, whereas
daughters of carriers have a 50 percent chance of being carriers themselves.
However, approximately 30 percent of the mutations in hemophilia A arise de
novo..1,4

Hemophilia A is characterized by excessive bleeding into various organs

of the body. Although bleeding may occur in any area of the body, the hallmark of
hemophilia is hemarthrosis. Bleeding into the joints may be induced by minor
trauma; many hemarthroses are spontaneous. From anamnesis, it is found that the
patient had suffered left knee swelling for three days. From physical examination,
we can found hemarthrosis of the left knee. Chest hematoma also was found
during time of treatment. Based on the anamnesis and physical findings, the
patient can be diagnosed as having bleeding disorder that leads to hemophilia. 1,4
Definitive diagnosis of hemophilia A can only be made from assay of
factor VIII which shows deficiency of

factor VIII. Patients with severe

hemophilia A characteristically have a prolonged activated partial thromboplastin

time (aPTT). From laboratory result, we can found abnormalities in factor VIII
and aPTT. It is shown that the patient has factor VIII deficiency and prolonged
aPTT.4,5,6,7
Patients with hemophilia A can be classified based on level of factor VIII
and clinical features, as listed on the table 1 below. Based on the level of factor
VIII, this patient can be classified as having moderate hemophilia.
Table 1. Classification of hemophilia A.1,8
Classificatio

Factor VIII Level

Clinical Features

n
Severe

1% of normal

1. Spontaneous hemorrhage from early

(0.01 U/ml)

infancy
2. Frequent spontaneous hemarthroses and
other hemorrhages, requiring clotting factor

Moderate

replacement
15% of normal 1. Hemorrhage secondary to trauma or
(0.010.05 U/ml)

Mild

surgery

2. Occasional spontaneous hemarthroses

630% of normal 1. Hemorrhage secondary to trauma or
(0.060.30 U/ml)

surgery

2. Rare spontaneous hemorrhage

Early, appropriate therapy is the hallmark of excellent hemophilia care.
When mild to moderate bleeding occurs, levels of factor VIII must be raised to
hemostatic levels in the 3550% range. For life-threatening or major
hemorrhages, the dose should aim to achieve levels of 100% activity. Calculation
of the dose of recombinant factor VIII (FVIII) is as follows :
Doses of FVIII (IU) : % desired (rise in FVIII) x body weight (kg) x 0,5.4
The primary aim of care in patients with hemophilia is to prevent
and treat bleeding with the deficient factor VIII. In severe bleeding episodes that
are potentially life-threatening, especially in the head, neck, chest, and
gastrointestinal tract, treatment with factor should be initiated immediately, even
before diagnostic assessment is completed.

Administration of desmopressin

(DDAVP) can raise FVIII level adequately (three to six times baseline levels) to
control bleeding in patients with mild, and possibly moderate, hemophilia A.
Prevention of bleeding can be achieved by prophylactic factor replacement.1,5,7
Home therapy can be used to manage mild/ moderate bleeding episodes.
Regular exercise and other measures to stimulate normal psychomotor
development should be encouraged to promote strong muscles, develop balance
and coordination, and improve fitness. Patients should avoid activities likely to
cause trauma. Regular monitoring of health status and assessment of outcomes are
key components of care. Drugs that affect platelet function, particularly
acetylsalicylic acid (ASA) and non-steroidal anti-inflammatory drugs (NSAIDs),
except certain COX-2 inhibitors, should be avoided. Paracetamol/acetaminophen
is a safe alternative for analgesia. Factor levels should be raised to appropriate
levels prior to any invasive procedure. Good oral hygiene is essential to prevent
periodontal disease and dental caries, which predispose to gum bleeding. 1,6,10

Dental extraction is the most frequent surgical procedure performed on

hemophilic patients. Loss of deciduous teeth seldom causes excessive bleeding,
but extraction of permanent teeth may result in excessive hemorrhage that can
persist intermittently for several days to weeks unless appropriate treatment is
administered. In the untreated patient with severe hemophilia, life-threatening,
dissecting pharyngeal and/or sublingual hematomas may result from dental
procedures or from administration of regional block anesthesia. 1 Management of
oral hemorrhage include :

direct pressure on the area using a damp gauze swab, maintained for at
least 15 minutes

sutures to close the wound

application of local hemostatic agents

antibiotics, especially in gingival bleeding due to poor oral hygiene

use of EACA or tranexamic acid as a mouthwash6

The patient should be advised to avoid swallowing the blood and to avoid
using mouthwash until the day after bleeding has stopped. Factor VIII
replacement with dosage of 20 IU/kg factor VIII may also be used.
The patient comes with left knee hemarthrosis. Bleeding into joints accounts
for approximately 75 percent of bleeding episodes in severely affected patients
with hemophilia A. Hemarthroses sometimes are heralded by an aura of mild
discomfort that, over a period of minutes to hours, becomes progressively painful.
The joint usually swells, becomes warm, and exhibits limited motion.
Occasionally the patient experiences a mild fever. Significant and sustained fever,
however, suggests an infected joint. When bleeding stops, the blood resorbs, and
the symptoms subside over a period of several days. If hemarthroses are treated
early and the joint is not chronically involved, pain usually subsides in 6 to 8
hours and disappears in 12 to 24 hours. However, repeated hemorrhage into the
joints eventually results in extensive destruction of articular cartilage, synovial
hyperplasia, and other reactive changes in the adjacent bone and tissues. Acute

bleeding into a chronically affected joint may be difficult to distinguish from the
pain of degenerative arthritis. One of the major complications of repeated
hemarthroses is joint deformity complicated by muscle atrophy and soft tissue
contractures. Osteoporosis and cystic areas in the subchondral bone may develop,
and progressive loss of joint space occurs. Following a joint bleed, flexion is
usually the most comfortable position, and any attempt to change this position
causes more pain. The goal of treatment of acute hemarthrosis is to stop the
bleeding as soon as possible. This should ideally occur as soon as the patient
recognizes the aura, rather than after the onset of overt swelling and pain.
Evaluation of the patient is done clinically. Administer the appropriate dose of
factor concentrate to raise the patients factor level suitably. Treatment for
hemarthrosis include 40 IU/kg factor VIII concentrate on day 1;then 20 IU/kg on
days 2,3,5 until joint function is normal or back to baseline. Consider additional
treatment every other day for 710 days and also consider prophylaxis. The
definitions below are recommended for the assessment of response to treatment of
an acute hemarthrosis :

Excellent : Complete pain relief within 8 hours and/or complete resolution

of signs of bleeding after the initial injection and not requiring any further
replacement therapy within 72 hours.

Good : Significant pain relief and/or improvement in signs of bleeding

within approximately 8 hours after a single injection, but requiring more
than one dose of replacement therapy within 72 hours for complete
resolution.

Moderate : Modest pain relief and/or improvement in signs of bleeding

within approximately 8 hours after the initial injection and requiring more
than one injection within 72 hours but without complete resolution.

None : No or minimal improvement, or condition worsens, within

approximately 8 hours after the initial injection6

Instruct the patient to avoid weight-bearing, apply compression, and elevate the
affected joint. Consider immobilizing the joint with a splint until pain resolves.
15. Ice/cold packs may be applied around the joint for 15-20 minutes every four to
six hours for pain relief, if found beneficial. Do not apply ice in direct contact
with skin. If bleeding does not stop, a second infusion may be required. If so,
repeat half the initial loading dose in 12 hours (hemophilia A). Further evaluation
is necessary if the patients symptoms continue longer than three days. The
presence of inhibitors, septic arthritis, or fracture should be considered if
symptoms and findings persist. Rehabilitation must be stressed as an active part of
the management of acute joint bleeding episodes. As soon as the pain and swelling
begin to subside, the patient should be encouraged to change the position of the
affected joint from a position of comfort to a position of function, gradually
decreasing the flexion of the joint and striving for complete extension. This should
be done as much as possible with active muscle contractions. Gentle passive
assistance may be used initially and with caution if muscle inhibition is present.
Early active muscle control must be encouraged to minimize muscle atrophy and
prevent chronic loss of joint motion. Active exercises and proprioceptive training
must be continued until complete pre-bleed joint range of motion and functioning
are restored and signs of acute synovitis have dissipated. If exercises are
progressed judiciously, factor replacement is not necessarily required before
exercising.

Results
It has been reported, an 8 years old boy with the chief complain of left
knee hemarthrosis and was diagnosed with hemophilia A. The diagnosis was
established based on history taking, physical examination and laboratory finding.

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