Autosomal dominant thrombocytopenia with platelet secretion defect


Engelsk navn: Autosomal dominant thrombocytopenia with platelet secretion defect


Definisjon

A rare isolated constitutional thrombocytopenia characterized by reduced platelet count and defective platelet ATP secretion, resulting in increased bleeding tendency. Clinical manifestations are easy bruising, gum bleeding, menorrhagia, spontaneous epistaxis, spontaneous muscle hematoma, and potential postpartum hemorrhage, among others.

Fra Orphanet

ORPHA: 466806
Klassifiseringsnivå: Disorder
ICD-10: D69.4

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Mer informasjon

Senter for sjeldne diagnoser ved OUS har kunnskap om diagnosen.
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