Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
ORPHA:477787· ICD-10 D69.1
Definition
A rare genetic hematologic and intestinal disease characterized by childhood onset of bleeding tendency with epistaxis, gum bleeding, gastrointestinal bleeding, hematuria, and menorrhagia due to impaired platelet aggregation and secretion, as well as recurrent gastrointestinal ulcers. Mildly reduced levels of coagulation factor XI have been reported in addition.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood