A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13.
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.
Meyer
Sara C
SC
Department of Hematology and Central Hematology Laboratory, Inselspital, Bern University Hospital and University of Bern, Bern, Switzerland.
Jeddi
Ramzi
R
Meddeb
Balkis
B
Gouider
Emna
E
Lämmle
Bernhard
B
Kremer Hovinga
Johanna A
JA
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
D051722:ADAM Proteins; D000071120:ADAMTS13 Protein; C099604:ADAMTS13 protein, human