Congenital Thrombotic Thrombocytopenic Purpura (Upshaw-Schulman Syndrome)
Autoszomális recesszív · 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.
Mit változtat a diagnózis
Regular preventive treatment with plasma or recombinant ADAMTS13 prevents acute episodes, and close monitoring is needed in pregnancy.
Vizsgált gének
Más néven
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
