Inherited disorders of platelet function

Pediatr Clin North Am. 2013 Dec;60(6):1475-88. doi: 10.1016/j.pcl.2013.08.004. Epub 2013 Oct 4.

Abstract

Inherited platelet function disorders are of variable severity and unknown frequency and may be difficult to diagnose. Nevertheless, they are increasingly recognized as an important cause of bleeding in pediatrics, particularly in adolescent girls with menorrhagia, where they may be more common than von Willebrand disease. This article reviews the presentation of these disorders, summarizes the most common types of platelet function disorders, discusses the challenges in diagnostic testing, and details treatment and supportive care options.

Keywords: Bruising; Epistaxis; Menorrhagia; Platelet aggregation; Platelets.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Blood Platelet Disorders / complications
  • Blood Platelet Disorders / diagnosis
  • Blood Platelet Disorders / drug therapy
  • Blood Platelet Disorders / genetics*
  • Blood Platelets / pathology
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Hemorrhage / diagnosis
  • Hemorrhage / drug therapy
  • Hemorrhage / etiology
  • Hemostasis / drug effects
  • Hemostasis / physiology*
  • Humans
  • Platelet Function Tests