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Спадкова тромбоцитопенія з нормальними тромбоцитами

ORPHA:268322· ICD-10 D69.4· Hereditary thrombocytopenia with normal platelets

Визначення(English summary)

A rare, genetic, isolated constitutional thrombocytopenia disease characterized by decreased platelet counts, not associated with platelet morphology or function impairment, in multiple members of a family. Manifestations are variable, typically ranging from asymptomatic to mild bleeding diathesis (e.g. easy bruising, epistaxis, petechiae). Occasionally, a more severe bleeding tendency has been associated and a mild predisposition to infection and eczema has been reported.

Поширеність
Unknown
Успадкування
Autosomal dominant, Autosomal recessive, X-linked recessive
Вік початку
All ages