[Congenital thrombocytopathies]

Internist (Berl). 2010 Sep;51(9):1109-14, 1116-7. doi: 10.1007/s00108-010-2596-3.
[Article in German]

Abstract

Inherited thrombocytopathies are much less frequent in comparison to acquired platelet function disorders. However, congenital disorders can lead to severe bleeding tendency and are often not diagnosed. They are induced by different platelet defects based on disorders of platelet adhesion, receptors, secretion and signal transduction. In some cases they are associated with thrombocytopenia, giant platelets and various comorbidities. This article gives an overview regarding diverse defects, their diagnosis and treatment options.

Publication types

  • English Abstract
  • Review

MeSH terms

  • Bernard-Soulier Syndrome / blood
  • Bernard-Soulier Syndrome / diagnosis
  • Bernard-Soulier Syndrome / genetics
  • Bernard-Soulier Syndrome / therapy
  • Blood Platelet Disorders / blood
  • Blood Platelet Disorders / diagnosis
  • Blood Platelet Disorders / genetics*
  • Blood Platelet Disorders / therapy
  • Blood Platelets / pathology
  • Blood Platelets / physiology*
  • Diagnosis, Differential
  • Genotype*
  • Hemorrhagic Disorders / blood
  • Hemorrhagic Disorders / diagnosis
  • Hemorrhagic Disorders / genetics*
  • Hemorrhagic Disorders / therapy
  • Humans
  • Mass Screening
  • Platelet Aggregation / genetics
  • Platelet Aggregation / physiology
  • Platelet Function Tests
  • Platelet Storage Pool Deficiency / blood
  • Platelet Storage Pool Deficiency / diagnosis
  • Platelet Storage Pool Deficiency / genetics
  • Platelet Storage Pool Deficiency / therapy
  • Prostaglandin-Endoperoxide Synthases / genetics
  • Receptors, Collagen / genetics
  • Receptors, Collagen / physiology
  • Thrombasthenia / blood
  • Thrombasthenia / diagnosis
  • Thrombasthenia / genetics
  • Thrombasthenia / therapy
  • Thromboxane-A Synthase / genetics

Substances

  • Receptors, Collagen
  • Prostaglandin-Endoperoxide Synthases
  • Thromboxane-A Synthase