Fifth Stage
Internal Medicine
Dr. Aamer – Lecture 4
1
Hemophilia
Case
: 30 years old patient presented with:
•
History of mild trauma that leaded to muscular hematoma (underneath the skin).
(Deep Seated bleeding).
•
History of joint swelling when playing football (bleeding in the joint -hemarthrosis).
•
History of previous surgical complication.
•
History of abnormal bleeding in circumcision.
Those events are called (hemostatic challenge).
So, the Conclusion is deep seated bleeding, since birth, attacks males = x-linked
inherited disorder =
Hemophilia
.
•
For reminding:
o
Primary hemostasis: Vascular phase, platelets and vWF.
o
Secondary hemostasis: Coagulation phase (defect cause deep seated bleeding).
Incidence: 1 in 10,000.
Types of hemophilia's:
•
Inherited factor VIII deficiency = Hemophilia A.
•
Inherited factor IX deficiency = Hemophilia B.
•
Inherited factor XI deficiency = Hemophilia C.
•
Inherited factor V deficiency = ParaHemophilia.
Clinical Features
Type A and B carry same symptoms:
•
Intracranial hemorrhage
•
Bruises and hemarthrosis (commonest presenting symptom).
•
Malena
•
GI bleeding
•
Cola-colored urine
•
Coffee-ground Hematemesis.
They only can be distinguished by factor assay investigation.
In female, only carrier state can occur. (or in rare cases, can be affected by acquired
hemophilia).
Hemophilia C: Asymptomatic (only incidental laboratory findings)
Life-threatening complications (arranged gradually):
•
Intracranial bleeding (Most one).
•
Nasopharyngeal bleeding close throat and airways.
•
GI bleeding (
obscure, hidden enemy
).
•
Iliopsoas bleeding (features of appendicitis-pain & tenderness … etc.).
2
Severity assessment:
Depend on amount of the factor in blood.
Normal ranges for factor VIII levels are 50% to 150%. If:
•
<1% Severe
•
<5% Moderate
•
>5%-40% Mild
Investigations
•
PTT (assess intrinsic pathway factors VIII, IX, XI)
prolonged in Hemophilia A, B
or C.
o
PT (assess extrinsic pathway factor VI, and others '1972').
•
Factor V, and also X, are common pathway factors, requires PT and PTT
both
prolonged in ParaHemophilia.
•
Then do specific factor assay according to suspected factor defect.
Treatment
•
In emergency situations, give cryoprecipitate (contains factor VIII & vWP).
o
Not whole blood.
o
Not platelets.
•
Desmopressin (increase vWF, the chaperon of factor VIII).
•
No treatment for hemophilia C.
•
Fresh frozen plasma for parahemophilia (
It contains all factors except VIII
).
•
Definitive treatment is by recombinant factor VIII or IX.
Thank you,,,
Notes were written from real-time lecture…