HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

A probable double heterozygous type II von Willebrand's disease with increased ristocetin induced platelet aggregation.

Abstract
We have identified a patient with von Willebrand's disease (vWD) resembling type IIB vWD, with increased ristocetin induced platelet aggregation (RIPA), the absence of the large multimers of von Willebrand factor (vWF) in plasma, and the presence of the large multimers in platelets in whom a family study indicated a probable double heterozygous inheritance pattern. The propositus was a 12-year-old boy with frequent epistaxis and bruising. Abnormal hemostatic findings included a prolonged bleeding time (BT), decreased levels of factor VIII coagulant activity (VIIIC), von Willebrand factor antigen (vWF:Ag), ristocetin cofactor (RCof), and an increased RIPA. In the presence of ristocetin, binding of the patient's plasma vWF to normal platelets was increased but binding of normal vWF to his platelets was normal. SDS-agarose gel (1.5%) electrophoresis revealed that plasma vWF lacked the large multimers, and 3.0% gel electrophoresis revealed that the multimers had a 5-band pattern similar to normal. The above findings were consistent with type IIB vWD, but 1-deamino[8-D-arginine]-vasopressin (DDAVP) infusion resulted in a shortened BT and the transient appearance of large multimers without a decrease in the platelet count. Family studies revealed that his mother has mild bleeding symptoms, decreased VIIIC, vWF:Ag, and RCof levels and normal to slightly reduced RIPA with a multimer pattern consistent with type I vWD. In contrast, the father, sister, and paternal grandfather were asymptomatic, with a slightly decreased VIIIC level but a normal BT and vWF:Ag and RCof levels. Their RIPA and vWF binding to normal platelets were increased, but unlike the propositus their plasma contained large multimers. We concluded that the propositus is a type IIB-like variant differing from previously reported IIB variants in two ways: 1) his response to DDAVP and 2) a possible double heterozygous mode of inheritance rather than the usual dominant route.
AuthorsS Kinoshita, K Yoshioka, M Kasahara, O Takamiya
JournalAmerican journal of hematology (Am J Hematol) Vol. 40 Issue 3 Pg. 192-8 (Jul 1992) ISSN: 0361-8609 [Print] United States
PMID1609773 (Publication Type: Journal Article)
Chemical References
  • von Willebrand Factor
  • Ristocetin
  • Sodium Dodecyl Sulfate
  • Deamino Arginine Vasopressin
Topics
  • Blood Platelets (metabolism)
  • Child
  • Deamino Arginine Vasopressin (administration & dosage)
  • Electrophoresis, Agar Gel (methods)
  • Heterozygote
  • Humans
  • Infusions, Intravenous
  • Male
  • Pedigree
  • Platelet Aggregation (drug effects)
  • Ristocetin (pharmacology)
  • Sodium Dodecyl Sulfate
  • von Willebrand Diseases (blood, genetics)
  • von Willebrand Factor (isolation & purification, metabolism)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: