Fifth Stage Internal Medicine Dr.

Aamer – Lecture 4

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.).

1
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…