Klinische und Labordiagnostische Aspekte des Aspirin-like Defekts als Hereditare Thrombozytopathie
Research output: Contribution to journal › Research article › Contributed › peer-review
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 language | German |
---|---|
Pages (from-to) | 177-183 |
Number of pages | 7 |
Journal | Hamostaseologie |
Volume | 29 |
Issue number | 2 |
Publication status | Published - 2009 |
Peer-reviewed | Yes |
External IDs
PubMed | 19404514 |
---|
Keywords
ASJC Scopus subject areas
Keywords
- Aspirin-like defect, Children, Inherited platelet function disorder