Klinische und Labordiagnostische Aspekte des Aspirin-like Defekts als Hereditare Thrombozytopathie

Research output: Contribution to journalResearch articleContributedpeer-review

Contributors

  • N. Rolf - , Department of Child and Adolescent Psychiatry and Psychotherapy (Author)
  • P. Bugert - , Universitätsmedizin Mannheim (Author)
  • S. Gehrisch - , Institute for Clinical Chemistry and Laboratory Medicine (Author)
  • G. Siegert - , Institute for Clinical Chemistry and Laboratory Medicine (Author)
  • M. Suttorp - , Department of Child and Adolescent Psychiatry and Psychotherapy (Author)
  • R. Knöfler - , Department of Paediatrics (Author)

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 <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 > 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.

Translated title of the contribution
Clinical and laboratory aspects of the Aspirin-like defect as hereditary thrombocytopathy

Details

Original languageGerman
Pages (from-to)177-183
Number of pages7
JournalHamostaseologie
Volume29
Issue number2
Publication statusPublished - 2009
Peer-reviewedYes

External IDs

PubMed 19404514

Keywords

ASJC Scopus subject areas

Keywords

  • Aspirin-like defect, Children, Inherited platelet function disorder