Nine kindreds of familial sticky platelet syndrome phenotype

Clin Appl Thromb Hemost. 2013 Jul-Aug;19(4):395-401. doi: 10.1177/1076029612439340. Epub 2012 Mar 19.

Abstract

Introduction: Sticky platelet syndrome (SPS) is most likely a hereditary thrombophilia characterized by platelet hyperaggregation after low concentrations of platelet inducers--adenosine diphosphate and/or epinephrine. We present 9 kindreds with SPS familial occurrence.

Material and methods: Familial trait of SPS was looked up in the database of the National Center of Hemostasis and Thrombosis. Families with at least 3 SPS-positive members were studied, described, and presented.

Results: In the group of 1093 symptomatic patients, SPS was confirmed in 240 cases. Familial occurrence with at least 3 SPS-positive relatives was found in 9 cases.

Conclusion: The exact pathogenesis of SPS is not sufficiently explained. Our findings seem to support the idea that SPS might have an autosomal dominant hereditary fashion.

Keywords: adenosine diphosphate; aggregometry; epinephrine; kindreds; sticky platelet syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Blood Platelet Disorders / genetics*
  • Child, Preschool
  • Family Health
  • Female
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Phenotype
  • Syndrome
  • Thrombophilia / genetics*
  • Young Adult