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

Summary

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.

Zusammenfassung

Der Aspirin-like Defekt (ALD) wird durch Defekte im thrombozytären Arachidonsäure (AS)-Stoffwechsel verursacht. Daten eines Patientenkollektivs aus unserem Zentrum werden vorgestellt. Patienten, Methoden: Ausgehend von 17 ALD-Indexpatienten wurden in einem Familienkollektiv, bestehend aus insgesamt 52 Individuen aus 17 Familien, Blutungssymptome, Agonisten-induzierte Thrombozytenaggregation sowie Verschlusszeiten im PFA-100^®-Test untersucht. Die fehlende Aggregation auf AS (maximale Aggregation ≤10%) war das diagnostische Hauptkriterium. Als mildes ALD wurde eine Aggregation von 11–40% definiert. Ergebnisse: Neben den 17 Indexpatienten wiesen 13 Familiengehörige einen ALD auf. Ein milder ALD wurde bei 4 Familienangehörigen festgestellt. Epistaxis, Hämatomneigung, Menorrhagien und perioperative Blutungen waren die häufigsten Blutungssymptome, wobei etwa Dreiviertel der ALD-Patienten ≥ 1 Blutungssymptom aufwiesen. Schlussfolgerung: Bei Blutungsneigung sollte die Diagnostik eine primäre Hämostasestörung ausschließen. Dabei stellen hereditäre Thrombozytopathien einschließlich des ALD eine wichtige Differenzialdiagnose dar. Eine Familiendiagnostik ist sinnvoll.

Keywords

Aspirin-like defect - inherited platelet function disorder - children

Schlüsselwörter

Aspirin-like Defekt - hereditäre Thrombozytopathie - Kinder

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