Clinical and laboratory phenotypes associated with the aspirin-like defect: A study in 17 unrelated families
Research output: Contribution to journal › Research article › Contributed › peer-review
Contributors
Abstract
Aspirin-like defect (ALD) is a rare, mostly autosomal dominant inherited dysfunction of the intraplatelet arachidonic acid (AA) pathway leading to impaired thromboxane A2 signalling. We aimed to establish diagnostic criteria for ALD diagnosis and present clinical and laboratory phenotypes of 52 individuals from 17 unrelated families. Platelet in vitro function was determined on the basis of platelet aggregation response (PAR) to AA, adenosine diphosphate, collagen and ristocetin as well as PFA-100® closure times (CT). Using impaired PAR to AA (≤10%) as the mandatory diagnostic criterion, ALD could be confirmed in 17 patients. Subsequently, family members were investigated and among 35 individuals an additional 13 ALD patients as well as 4 individuals with mild ALD (PAR to AA: 19-32%) were identified. At least one bleeding symptom was reported by 25 (74%) ALD patients and prolonged CT was detected in 24 (71%) of the cases, both significantly correlated with impaired PAR to AA (P = 0.001 and P = 0.002, respectively). An estimated 0.6% prevalence was determined for ALD in our paediatric patients with suspected coagulation disorders. Due to the mild bleeding symptoms, ALD is probably underdiagnosed. If ALD is suspected, PAR to AA is suitable for the identification of individuals at risk of increased haemorrhage.
Details
Original language | English |
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Pages (from-to) | 416-424 |
Number of pages | 9 |
Journal | British journal of haematology |
Volume | 144 |
Issue number | 3 |
Publication status | Published - Feb 2009 |
Peer-reviewed | Yes |
External IDs
PubMed | 19036102 |
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Keywords
ASJC Scopus subject areas
Keywords
- Arachidonic acid, Aspirin-like defect, Cyclooxygenase deficiency, Inherited platelet function disorder, Platelet signal transduction defect