Clinical findings:
(1) familial pattern, often with an autosomal recessive pattern
(2) homozygous patients have a severe, lifelong bleeding disorder
(3) heterozygotes may be asymptomatic or have a mild bleeding disorder that gets worse as the patient gets older
Bleeding may include:
(1) epistaxis
(2) easy bruisability
(3) hematuria
(4) menorrhagia (in women)
(5) hemarthrosis
(6) post-operative or post-traumatic bleeding with a delayed onset
Laboratory findings:
(1) normal plasma fibrinogen and fibrin degradation products
(2) decreased time for euglobin clot lysis
(3) normal levels of Factor 8 and other coagulation factors
(4) decreased functional antiplasmin activity, markedly decreased if homozygous or moderately decreased if heterozygous
(5) antigenic protein may be normal or decreased parallel to functional activity, depending on whether the protein synthesis is defective or deficient
