The hemophilia A and B are sex-linked disorders leading to deficiencies of coagulation factor VIII (FVIII) and FIX, respectively. Bleeding is the hallmark of the disease, principally joint and soft tissue bleeding. The level of factor is directly related to the clinical severity of the disease where severe disease is less than 1% activity, moderate disease is 1% to 5%, and mild disease is greater than 5%. FXI deficiency (also known as hemophilia C), bleeding classically is not directly related to factor level and occurs several days after initial trauma or surgery. Antibodies to factor proteins termed inhibitors occur in 20% to 30% of FVIII patients and 2% to 4% of FIX patients. Inhibitor levels greater than 5 Bethesda units (BUI) require the use of bypassing agents such as Novoseven (FVIIa) and/or FVIII inhibitor bypassing activity (FEIBA).
Bleeding disorders such as von Willebrand disease, disseminated intravascular coagulopathy (DIC), liver disease, and acquired hemophilia may manifest clinically in a similar fashion.
Diagnostic Criteria and Clinical Characteristics
Diagnostic Criteria for Hemophilia
Diagnostic evaluation should include at least one of the following (see Fig. 32-1 algorithm):
Prolonged partial thromboplastin time (PTT) with normal prothrombin time (PT), normal platelet count
FVIII or FIX levels measured lower than normal (normal range 50%-150%)
FVIII and FIX inhibitor levels measured (normal <0.6 BUI)
Algorithm for Diagnostic Evaluation of Patient With Hemophilia.
Joint bleeding (spontaneous), muscle bleeding (spontaneous), epistaxis or gum bleeding, intracranial/subdural/epidural/subarachnoid bleeding, hematuria; circumcision bleeding
Screening tests include PTT, PT, complete blood count (CBC) or different factor levels, von Willebrand levels, Bethesda titer.
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