TY - JOUR
T1 - Congenital microangiopathic hemolytic anemia and thrombocytopenia with unusually large von willebrand factor multimers and von willebrand factor-cleaving protease
AU - Savaşan, Süreyya
AU - Taub, Jeffrey W.
AU - Buck, Steven
AU - Botterill, Melinda
AU - Furlan, Miha
AU - Ravindranath, Yaddanapudi
PY - 2001
Y1 - 2001
N2 - Infantile or congenital cases of thrombotic microangiopathy have been reported that were familial and characterized by ongoing microangiopathic hemolysis and thrombocytopenia in the absence of regular fresh-frozen plasma transfusions. The authors describe a child with congenital microangiopathic hemolytic anemia and thrombocytopenia (CMHAT) who has received regular fresh-frozen plasma transfusions since infancy and has never had thrombotic complications. von Willebrand factor (vWF)-cleaving protease activity was studied in the patient’s pretransfusion and posttransfusion plasma samples as well as in her parents’ plasma. The effects of the patient’s and a control subject’s plasma on human microvascular endothelial cells were also investigated. Unusually large vWF multimers were present in the patient’s plasma both before transfusion (thrombocytopenic) and after transfusion. Unlike cases of chronic relapsing thrombotic thrombocytopenic purpura, vWF-cleaving protease activity was present and treatment of cultured human endothelial cells with the patient’s plasma did not induce apoptosis. These findings suggest that the patient with CMHAT may represent a different group in the broad spectrum of thrombotic microangiopathies.
AB - Infantile or congenital cases of thrombotic microangiopathy have been reported that were familial and characterized by ongoing microangiopathic hemolysis and thrombocytopenia in the absence of regular fresh-frozen plasma transfusions. The authors describe a child with congenital microangiopathic hemolytic anemia and thrombocytopenia (CMHAT) who has received regular fresh-frozen plasma transfusions since infancy and has never had thrombotic complications. von Willebrand factor (vWF)-cleaving protease activity was studied in the patient’s pretransfusion and posttransfusion plasma samples as well as in her parents’ plasma. The effects of the patient’s and a control subject’s plasma on human microvascular endothelial cells were also investigated. Unusually large vWF multimers were present in the patient’s plasma both before transfusion (thrombocytopenic) and after transfusion. Unlike cases of chronic relapsing thrombotic thrombocytopenic purpura, vWF-cleaving protease activity was present and treatment of cultured human endothelial cells with the patient’s plasma did not induce apoptosis. These findings suggest that the patient with CMHAT may represent a different group in the broad spectrum of thrombotic microangiopathies.
KW - Congenital
KW - Endothelial cell apoptosis
KW - Microangiopathic hemolytic anemia
KW - Thrombocytopenia
KW - Von Willebrand factor multimers
UR - http://www.scopus.com/inward/record.url?scp=0034847605&partnerID=8YFLogxK
U2 - 10.1097/00043426-200108000-00008
DO - 10.1097/00043426-200108000-00008
M3 - Article
C2 - 11563771
AN - SCOPUS:0034847605
VL - 23
SP - 364
EP - 367
JO - American Journal of Pediatric Hematology/Oncology
JF - American Journal of Pediatric Hematology/Oncology
SN - 0192-8562
IS - 6
ER -