Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the ADAMTS13 gene

Rank, Cecilie Utke; Kremer Hovinga, Johanna Anna; Mansouri Taleghani, Magnus; Lämmle, Bernhard; Gøtze, Jens Peter; Nielsen, Ove Juul (2014). Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the ADAMTS13 gene. European journal of haematology, 92(2), pp. 168-171. Wiley-Blackwell 10.1111/ejh.12197

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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 (K681C fs X16), and a missense mutation in exon 25 (c.3368G>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.

Item Type:

Journal Article (Original Article)


04 Faculty of Medicine > Department of Haematology, Oncology, Infectious Diseases, Laboratory Medicine and Hospital Pharmacy (DOLS) > Clinic of Haematology and Central Haematological Laboratory

UniBE Contributor:

Kremer Hovinga, Johanna Anna; Mansouri Taleghani, Magnus and Lämmle, Bernhard


600 Technology > 610 Medicine & health








Verena Zwahlen

Date Deposited:

16 Jun 2014 10:11

Last Modified:

05 Nov 2015 10:10

Publisher DOI:


PubMed ID:


Uncontrolled Keywords:

thrombotic thrombocytopenic purpura; ADAMTS13; genetic disorder; von Willebrand factor; Upshaw–Schulman syndrome




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