Congenital Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)
Autozomálně recesivní · Roughly 1 in a million people.
Caused by changes in both copies of ADAMTS13; episodes may begin in newborns, often with severe jaundice, or first appear in adulthood, frequently triggered by pregnancy or infection.
Co se diagnózou změní
Regular preventive treatment with plasma or recombinant ADAMTS13 prevents acute episodes, and close monitoring is needed in pregnancy.
Analyzované geny
Známé také jako
congenital ADAMTS-13 deficiency; congenital ADAMTS13 deficiency; congenital TTP; familial TTP; hereditary thrombotic thrombocytopenic purpura; Microangiopathic hemolytic Anaemia; thrombotic thrombocytopenic purpura, congenital; TTP; Upshaw-Schulman syndrome; USS
