Type II H von Willebrand disease: new structural abnormality of plasma and platelet von Willebrand factor in a patient with prolonged bleeding time and borderline levels of ristocetin cofactor activity

American Journal of Hematology
A B FedericiT S Zimmerman

Abstract

In this study a new variant of type II von Willebrand disease is identified by multimeric analyses of increasing resolving power. Prior to multimeric analysis, the patient was misdiagnosed as carrying an undefined abnormality in platelet function because of his normal von Willebrand factor antigen (vWF:Ag) and low borderline ristocetin cofactor (Ricof) levels. Absence of the largest multimers from the patient's plasma and platelets was shown in a low-resolution system, but all the multimers were present in his relatives. An abnormality in the complex multimeric structure was demonstrated in both plasma and platelets with high-resolution agarose gels. The plasma of the proband and of several family members shows a broader central band with a minor, faster moving satellite band differing from the typical "triplet pattern" observed with normal plasma. Platelets show a "doublet" that runs with a mobility different from the "doublet" in normals. Therefore the proband may be either a homozygote or double heterozygote for this new abnormality. Treatment with desmopressin (DDAVP) on several occasions corrected the prolonged bleeding time of the patient only transiently. Factor VIII increased significantly, but vWF:Ag and Ricof responde...Continue Reading

References

Sep 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·H R GralnickM E Rick
Nov 1, 1982·The Journal of Clinical Investigation·Z M RuggeriT S Zimmerman

❮ Previous
Next ❯

Citations

Apr 1, 1996·Transfusion Medicine Reviews·E W Murray, D Lillicrap
Aug 15, 1993·Proceedings of the National Academy of Sciences of the United States of America·M FurlanB Lämmle
Jan 1, 1997·Annual Review of Medicine·B M Ewenstein
Feb 24, 1999·Haemophilia : the Official Journal of the World Federation of Hemophilia·A B Federici, P M Mannucci
Jan 5, 1999·Haemophilia : the Official Journal of the World Federation of Hemophilia·P M Mannucci
Jan 22, 2005·Seminars in Hematology·Francesco Rodeghiero, Giancarlo Castaman
May 9, 2009·Journal of Thrombosis and Haemostasis : JTH·L BaroncianiP M Mannucci
Nov 1, 2001·Best Practice & Research. Clinical Haematology·R SchneppenheimZ M Ruggeri
Sep 27, 2006·Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis·Jan Jacques MichielsHuub van Vliet
Feb 15, 2002·Reviews in Clinical and Experimental Hematology·U Budde, R Schneppenheim

❮ Previous
Next ❯

Related Concepts

Related Feeds

Blood Clotting Disorders

Thrombophilia includes conditions with increased tendency for excessive blood clotting. Blood clotting occurs when the body has insufficient amounts of specialized proteins that make blood clot and stop bleeding. Here is the latest research on blood clotting disorders.