[Inherited platelet disorders]

Ugeskr Laeger. 2021 Oct 18;183(42):V02210176.
[Article in Danish]

Abstract

Inherited platelet disorders (IPD) cover a heterogenous group of disorders with large differences in severity, disease mechanisms and prevalence. Pathogenic variants in more than 60 different genes, associated with megakaryocyte or platelet number and/or function, are causal of IPD. Due to disease heterogeneity IPDs are often difficult to diagnose, problematic to manage and underestimated. In the past decade, genetic diagnostics using whole-genome sequencing has revolutionised the field by identifying numerous novel genes involved in IPD aetiology as described in this review.

Publication types

  • Review

MeSH terms

  • Blood Platelet Disorders* / diagnosis
  • Blood Platelet Disorders* / genetics
  • Blood Platelets*
  • Humans
  • Whole Genome Sequencing