rare inherited bleeding disorders
Inherited bleeding disorders other than factor VIII and factor IX deficiencies - hemophilia A and B, respectively – and von Willebrand disease can cause major health impairment. These abnormalities encompass rare coagulation factor deficiencies, including:
fibrinogen; factor II; factor V; factor VII; factor X; factor XI; factor XIII; combined deficiencies of factors V and VIII; and combined deficiencies of the vitamin K-dependent coagulation factors, factors II, VII, IX and X;
as well as disorders of platelet function, including:
deficiencies of membrane glycoproteins; disorders of storage granules; and
familial thrombocytopenias.
Less is known about the natural history and optimal management of these disorders because most of them are very rare. All together though, as of the beginning of 2009, there are over 1300 patients in the Canadian Rare Inherited Bleeding Disorders Registry, about 750 patients with rare coagulation factor deficiencies and about 550 patients with platelet function disorders.
The following provide further information on platelet function disorders:
Disorder of Platelet function - information booklet
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Diagnostic Criteria Diagnostic Algorithm