A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13

Meyer, Sara C; Jeddi, Ramzi; Meddeb, Balkis; Gouider, Emna; Lämmle, Bernhard; Kremer Hovinga, Johanna A (2008). A first case of congenital TTP on the African continent due to a new homozygous mutation in the catalytic domain of ADAMTS13. Annals of hematology, 87(8), pp. 663-6. Berlin: Springer 10.1007/s00277-008-0496-6

Preview

Text Meyer2008_Article_AFirstCaseOfCongenitalTTPOnThe.pdf - Published Version Available under License Publisher holds Copyright. Download (91kB) | Preview

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.

Interest & Impact

Downloads

73 since deposited on 04 Oct 2013
28 in the past 12 months

Citations

5 Citations in Web of Science ®
6 Citations in Scopus

Search

in Google Scholar™

Services

Actions (login required)

Edit item

Actions (login required)

Edit item