[Clinical and laboratory aspects of the Aspirin-like defect as hereditary thrombocytopathy]

Hamostaseologie. 2009 May;29(2):177-83.
[Article in German]

Abstract

The Aspirin-like defect (ALD) is caused by defects in the intraplatelet arachidonic acid (AA)-metabolism. We here present the characteristics of a larger cohort in a single centre.

Patients, methods: Based on 17 ALD index patients bleeding symptoms, agonist-induced platelet aggregation and closure times in the PFA-100 test were analysed in a family cohort of altogether 52 individuals from 17 families. Absent aggregation to AA (maximal aggregation <or= 10%) was the main diagnostic criterion. A mild ALD was diagnosed when aggregation was 11-40%.

Results: In addition to 17 ALD index patients, 13 family members displayed ALD. 4 family members were diagnosed with a mild ALD. Epistaxis, easy bruising, menorrhagia and perioperative hemorrhage were the most common bleeding symptoms, whereas three quarters of ALD patients presented with >or=1 bleeding symptoms.

Conclusion: In case of a bleeding tendency diagnostic procedures should rule out primary haemostatic defects. Hereditary platelet function defects including ALD are an important differential diagnosis. Family studies are reasonable.

Publication types

  • English Abstract

MeSH terms

  • Aspirin / pharmacology*
  • Blood Coagulation Disorders / etiology
  • Blood Coagulation Disorders / genetics
  • Blood Platelet Disorders / diagnosis
  • Family
  • Female
  • Hemorrhagic Disorders / etiology
  • Hemorrhagic Disorders / genetics
  • Humans
  • Male
  • Prostaglandins / metabolism
  • Thrombocytopenia / genetics*

Substances

  • Prostaglandins
  • Aspirin