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

Publikation: Beitrag in FachzeitschriftForschungsartikelBeigetragenBegutachtung

Beitragende

  • N. Rolf - , Klinik und Poliklinik für Kinder- und Jugendmedizin (Autor:in)
  • P. Bugert - , Universitätsmedizin Mannheim (Autor:in)
  • S. Gehrisch - , Institut für Klinische Chemie und Laboratoriumsmedizin (Autor:in)
  • G. Siegert - , Institut für Klinische Chemie und Laboratoriumsmedizin (Autor:in)
  • M. Suttorp - , Klinik und Poliklinik für Kinder- und Jugendmedizin (Autor:in)
  • R. Knöfler - , Klinik und Poliklinik für Kinder- und Jugendmedizin (Autor:in)

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.

Details

OriginalspracheDeutsch
Seiten (von - bis)177-183
Seitenumfang7
FachzeitschriftHamostaseologie
Jahrgang29
Ausgabenummer2
PublikationsstatusVeröffentlicht - 2009
Peer-Review-StatusJa

Externe IDs

PubMed 19404514

Schlagworte

ASJC Scopus Sachgebiete

Schlagwörter

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