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


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 <or= 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 >or=1 bleeding symptoms.


CONCLUSIONS
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.
Rolf
N
N
Klinik und Poliklinik für Kinder- und Jugendmedizin, Bereich Pädiatrische Hämatologie und Onkologie, Universitätsklinikum Carl Gustav Carus, Technische Universität, 01307 Dresden.
Bugert
P
P
Gehrisch
S
S
Siegert
G
G
Suttorp
M
M
Knöfler
Ralf
R
D001241:Aspirin / Q000494:pharmacology*; D001778:Blood Coagulation Disorders / Q000209:etiology / Q000235:genetics; D001791:Blood Platelet Disorders / Q000175:diagnosis; D005190:Family; D005260:Female; D006474:Hemorrhagic Disorders / Q000209:etiology / Q000235:genetics; D006801:Humans; D008297:Male; D011453:Prostaglandins / Q000378:metabolism; D013921:Thrombocytopenia / Q000235:genetics*
D011453:Prostaglandins; D001241:Aspirin