Inherited Platelet Disorders

Hematol Oncol Clin North Am. 2021 Dec;35(6):1069-1084. doi: 10.1016/j.hoc.2021.07.003. Epub 2021 Aug 12.

Abstract

Bleeding disorders due to platelet dysfunction are a common hematologic complication affecting patients, and typically present with mucocutaneous bleeding or hemorrhage. An inherited platelet disorder should be suspected in individuals with a suggestive family history and no identified secondary causes of bleeding. Genetic defects have been described at all levels of platelet activation, including receptor binding, signaling, granule release, cytoskeletal remodeling, and platelet hematopoiesis. Management of these disorders is typically supportive, with an emphasis on awareness, patient education, and anticipatory guidance to prevent future episodes of bleeding.

Keywords: Bleeding; Inherited platelet disorders; Platelets.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Blood Coagulation Disorders
  • Blood Platelet Disorders* / diagnosis
  • Blood Platelet Disorders* / genetics
  • Blood Platelet Disorders* / therapy
  • Blood Platelets
  • Hemorrhage / genetics
  • Humans
  • Platelet Activation