Klinische und Labordiagnostische Aspekte des Aspirin-like Defekts als Hereditare Thrombozytopathie
Publikation: Beitrag in Fachzeitschrift › Forschungsartikel › Beigetragen › Begutachtung
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
Originalsprache | Deutsch |
---|---|
Seiten (von - bis) | 177-183 |
Seitenumfang | 7 |
Fachzeitschrift | Hamostaseologie |
Jahrgang | 29 |
Ausgabenummer | 2 |
Publikationsstatus | Veröffentlicht - 2009 |
Peer-Review-Status | Ja |
Externe IDs
PubMed | 19404514 |
---|
Schlagworte
ASJC Scopus Sachgebiete
Schlagwörter
- Aspirin-like defect, Children, Inherited platelet function disorder