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- Title
Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the ADAMTS13 gene.
- Authors
Rank, Cecilie Utke; Kremer Hovinga, Johanna; Taleghani, Magnus Mansouri; Lämmle, Bernhard; Gøtze, Jens Peter; Nielsen, Ove Juul
- Abstract
Upshaw- Schulman syndrome ( USS) is due to severe congenital deficiency of von Willebrand factor ( VWF)-cleaving protease ADAMTS13 (a disintegrin and metalloprotease with thrombospondin type 1 domains, nr 13) activity resulting in the presence of unusually large forms of VWF in the circulation, causing intravascular platelet clumping and thrombotic microangiopathy. Our patient, a 26-year-old man, had attacks of thrombotic thrombocytopenic purpura ( TTP) with thrombocytopenia and a urine dipstick positive for hemoglobin (4+), often as the only sign of hemolytic activity. He had ADAMTS13 activity of <1% of normal plasma without the presence of inhibitors of ADAMTS13. ADAMTS13 deficiency was caused by two new mutations of the ADAMTS13 gene: a deletion of a single nucleotide in exon17 (c. 2042 delA) leading to a frameshift ( K681 C fs X16), and a missense mutation in exon 25 (c.3368 G> A) leading to p.R1123H. This case report confirms the importance of the analysis of the ADAMTS13 activity and its inhibitor in patients who have episodes of TTP, with a very low platelet count and sometimes without the classic biochemical signs of hemolysis.
- Subjects
CONGENITAL disorders; THROMBOTIC thrombocytopenic purpura; GENETIC mutation; VON Willebrand factor; DISINTEGRINS; METALLOPROTEINASES; THROMBOSPONDIN-1
- Publication
European Journal of Haematology, 2014, Vol 92, Issue 2, p168
- ISSN
0902-4441
- Publication type
Article
- DOI
10.1111/ejh.12197