title: A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13.
abstract: Hereditary thrombotic thrombocytopenic purpura (TTP) is a rare disorder characterized by occlusive microvascular thrombosis, consumptive thrombocytopenia, and microangiopathic hemolytic anemia. Homozygous or compound heterozygous mutations in the ADAMTS13 gene result in a congenital severe ADAMTS13 deficiency and subsequent accumulation of ultra-large von Willebrand factor multimers, which tend to form platelet thrombi in the microcirculation. We report a first case of congenital TTP on the African continent with a new, homozygous mutation in the metalloprotease domain of ADAMTS13. An initially oligo-symptomatic presentation was followed by acute exacerbation with ischemic stroke and acute renal failure highlighting the severity of this syndrome.
authors.affiliation: Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland.
authors.forename: Sara C
authors.initials: SC
authors.lastname: Meyer
authors.forename: Ramzi
authors.initials: R
authors.lastname: Jeddi
authors.forename: Balkis
authors.initials: B
authors.lastname: Meddeb
authors.forename: Emna
authors.initials: E
authors.lastname: Gouider
authors.forename: Bernhard
authors.initials: B
authors.lastname: Lämmle
authors.forename: Johanna A
authors.initials: JA
authors.lastname: Kremer Hovinga
mesh_terms: D051722:ADAM Proteins / Q000172:deficiency / Q000235:genetics*; D000071120:ADAMTS13 Protein; D000293:Adolescent; D003241:Consanguinity; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D010949:Plasma; D011697:Purpura, Thrombotic Thrombocytopenic / Q000235:genetics* / Q000628:therapy; D014416:Tunisia
chemical_list: D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human