Upshaw-Schulman Syndrome

Abstract

Congenital thrombotic thrombocytopenic purpura; von Willebrand factor cleaving protease Discussion The classical description of TTP consists of the pentad of microangiopathic haemolytic anaemia (MAHA),

Bilateral Ischemic Retinopathy Associated With Upshaw-Schulman Syndrome: A Case Report

“…USS is an autosomal recessive disease associated with an ADAMTS13 deficiency, encoded by a gene on the long arm of chromosome 9 (locus 9q34). 1,2 ADAMTS13 is a plasma metalloprotease that cleaves a specific peptide bond in the von Willebrand factor subunit. An ADAMTS13 deficiency decreases the size of von Willebrand factor multimers in circulation, causing thrombi in the microvasculature.…”

“…3 USS differs from the acquired form of TTP-found commonly in adolescents and adults-in which autoantibodies are responsible for neutralizing the ADAMTS13 metalloprotease. 2 While the incidence of USS has not been established exactly, it is known to be fewer than 1 case per million individuals per year. More than 130 mutations have been reported as homozygous or heterozygous in ADAMTS13, resulting in severe deficiencies of this metalloprotease.…”

“…Acute renal failure and progressive renal deterioration are frequent because of hemoglobinuria and/or thrombotic microangiopathy during hemolytic crisis, occurring in approximately 50% of cases. 2 Treatment consists of administering fresh-frozen plasma because it contains physiological amounts of the ADAMTS13 enzyme or intermediated purity factor VIII concentrate, which in turn contains measurable ADAMTS13. 4 Fresh-frozen plasma has also been administered prophylactically.…”

“…USS is an autosomal recessive disease associated with an ADAMTS13 deficiency, encoded by a gene on the long arm of chromosome 9 (locus 9q34). 1,2…”

“…Acute renal failure and progressive renal deterioration are frequent because of hemoglobinuria and/or thrombotic microangiopathy during hemolytic crisis, occurring in approximately 50% of cases. 2…”