A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13.
Article Details
- CitationCopy to clipboard
Meyer SC, Jeddi R, Meddeb B, Gouider E, Lammle B, Kremer Hovinga JA
A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13.
Ann Hematol. 2008 Aug;87(8):663-6. doi: 10.1007/s00277-008-0496-6. Epub 2008 Apr 29.
- PubMed ID
- 18443791 [ View in PubMed]
- 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.