Multiple congenital coagulopathies co-expressed with Von Willebrand's disease: the experience of Hemophilia Region III Treatment Centers over 25 years and review of the literature

Haemophilia. 2007 Nov;13(6):685-96. doi: 10.1111/j.1365-2516.2007.01541.x.

Abstract

The haematologist medical directors of the Hemophilia Region III Treatment Centers in the mid-Atlantic Region III of the United States identified individuals in their databases diagnosed with additional congenital coagulopathies co-expressing with Von Willebrand's disease (VWD) and its variants. Sixteen individuals from 14 unrelated families, originating from five institutions, had been evaluated comprehensively. They represented approximately 1.5% of the calculated VWD population (n=986) registered in region III at the end of year 2002. Eleven of the 16 (68.75%) had type 1 VWD; two (12.5%) had type 2A; two (12.5%) had type 2 Normandy (2N) and one (6.25%) had coexisting type 2B and type 2N VWD. The accompanying coagulopathies consisted of severe or moderate factor VIII (FVIII) deficiency (haemophilia A) in six (37.5%); severe or moderate factor IX deficiency (haemophilia B) in three (18.75%); severe or moderate factor XI deficiency in two (12.5%); severe factor VII deficiency in two (12.5%); combined factor XI and XII deficiencies in one (6.25%); qualitative platelet abnormality in one (6.25%); and one had combined type 2B and type 2N VWD (6.25%). The reversal of overt bleeding often required multiple therapeutic modalities, mandated by the specific combination of coagulation disorders. This included administration of specific purified clotting factor concentrates, cryoprecipitate, fresh frozen plasma, 1,8 deamino-d-arginine vasopressin, antifibrinolytic agents, platelet transfusions, etc. In summary, combined inherited coagulopathies coexisting with VWD are uncommon and frequently are phenotypically divergent from VWD. Successful therapy required an individualized approach, employing multiple replacement strategies, based on the laboratory definition of the specific additional coagulation defect.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Blood Coagulation Disorders / diagnosis*
  • Child
  • Child, Preschool
  • Coagulants / therapeutic use*
  • Factor VIII / therapeutic use*
  • Female
  • Hemophilia B / diagnosis
  • Hemophilia B / drug therapy
  • Hemophilia B / genetics
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Platelet Function Tests
  • Thrombasthenia / diagnosis
  • Thrombasthenia / drug therapy
  • Thrombasthenia / genetics
  • Treatment Outcome
  • United States
  • von Willebrand Diseases / diagnosis*
  • von Willebrand Diseases / drug therapy
  • von Willebrand Diseases / genetics

Substances

  • Coagulants
  • Factor VIII