Rank, Cecilie Utke3; Kremer Hovinga, Johanna4; Taleghani, Magnus Mansouri4; Lämmle, Bernhard4; Gøtze, Jens Peter1; Nielsen, Ove Juul2
1 Klinisk Biokemisk Afdeling, Diagnostisk Center, Rigshospitalet, The Capital Region of Denmark2 Hæmatologisk Klinik, Finsencentret, Rigshospitalet, The Capital Region of Denmark3 Department of Cardiology, Nephrology and Endocrinology, Nordsjællands Hospital, The Capital Region of Denmark4 unknown
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 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.
European Journal of Haematology, 2014, Vol 92, Issue 2, p. 168-71