Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey. (25th July 2014) - Gresele, P.
Summary Background Diagnosis of inherited platelet function disorders (IPFDs) is important for appropriate management and to improve epidemiologic and clinical knowledge. However, there remains a lack of consensus on the diagnostic approach. Objectives To gain knowledge on the current practices for the diagnosis of IPFD worldwide. Methods A 67‐item questionnaire was distributed to the ISTH members and to the members of several national hemostasis and thrombosis societies. Results A total of 202 laboratories from 37 countries participated in the survey. The most frequent criterion to define patients with a suspected IPFD was a history of mucocutaneous bleeding and no acquired cause, but heterogeneity on the identification criteria was evident. Only 64.5% of respondents performed a direct clinical interview. On average, each laboratory studied 72 patients per year. The most commonly used laboratory equipment were the light‐transmission aggregometer, the Platelet Function Analyzer‐100, and the flow cytometer. Screening tests were platelet count, peripheral blood smear, light‐transmission aggregometry, and Platelet Function Analyzer‐100. Second‐step tests were flow cytometry, molecular genetic analysis, and electron microscopy. Methodologies varied widely. In total, ~ 14 000 patients were investigated yearly and 60% turned out to not have a defect. Of the remaining 40%, only 8.7% received a diagnosis at a molecular level. Conclusions Many laboratories worldwide are involved in the diagnosis of IPFD. A large fraction of the patients studied remain without a diagnosis. A high variability in the diagnostic approaches is evident.