bleeding disorder, platelet-type, 24

Bleeding disorder, platelet-type, 24 is an inherited condition that primarily affects the function and size of platelets, leading to a tendency for abnormal bleeding. It is linked to pathogenic variants in the ITGB3 gene, which plays a crucial role in platelet aggregation. The condition follows an autosomal dominant pattern, meaning a single altered copy of the gene can result in the disorder. Precise prevalence information is not well established, and ongoing research continues to shed light on its epidemiology.

Patients with this condition typically exhibit consistent laboratory and clinical findings, including platelet anisocytosis, thrombocytopenia, increased mean platelet volume, and impaired platelet aggregation in response to arachidonic acid, collagen, epinephrine, and ADP. Menorrhagia is a prominent feature in affected individuals, and abnormal bleeding can occur in a variable proportion of cases. Not all individuals experience all features, and severity varies considerably.

Bleeding disorder, platelet-type, 24 is caused by changes in the ITGB3 gene, which encodes a protein essential for normal platelet aggregation. The altered protein disrupts normal platelet function, leading to the characteristic impairments in platelet aggregation and alterations in platelet size. The condition is inherited in an autosomal dominant pattern, so having one mutated copy of the gene can lead to the disorder, with affected individuals potentially passing the variant on to about half of their children. That even with the genetic change, the manifestation of symptoms may differ among individuals. Associated genes include ITGB3.