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Hemophilia
Hemophilia
Hemophilia is an inherited deficiency of a blood-clotting factor that results in excessive bleeding.
Blood does not clot normally and excessive bleeding results.
Inheritance
   
Clinical Manifestation
Bleeding into soft tissues, muscles and weight bearing joints.
Hours to days after injury, can involve any organ and if untreated, continue for days to weeks.
Compartment syndrome
Pseudophlebitis (venous congestion)
Ischemic damage to nerves
Femoral neuropathy (retroperitoneal hematoma)
Severity of disease
Depending on factors level
< 1% Severe, spontaneous bleeding
1-5% Moderate bleeding with minimal trauma or surgery
6-30% Mild bleeding with major trauma or surgery
Majority of patients - < 5%
Diagnosis
Shortly after birth
Profuse bleeding at circumcision.
Young child with moderate disease may not bleed until they begin to crawl or walk.
Pt presents with pain followed by swelling in weight bearing joint such as knee, hip or ankle.
Hemarthrosis- inflammation of synovial membrane
Repetitive episode erodes articular cartilage and causes osteoarthritis, articular fibrosis, joint ankylosis, eventually muscle atrophy.
Laboratory Diagnosis
PTT – prolonged
PT
Platelet count – normal or increased
Bleeding time
Factor assay
VWF assess – to differentiate between vWD and Hemophilia, to identify carrier status
Complications
1
Hepatitis
2
Elevated hepatocellular enzymes
3
Abnormality on liver biopsy
4
Despite of frequent bleeding, iron deficiency anemia is uncommon.
5
Following multiple transfusion, 10 to 20% pt with severe hemophilia develop inhibitors to FVIII
Treatment
1 Indications
2 Prophylaxis Vs On demand
3 Joint/ Muscle bleed
4 Surgery
5 Plasma product rich in F VIII
6 Cryoprecipitate
7 Lyophilized F VIII concentrate
8 Monoclonal Purified F VIII
9 Recombinant F VIII