title: Diagnosis of suspected inherited platelet function disorders: results of a worldwide survey.
abstract: 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.
  
  
  OBJECTIVE
  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.
authors: Division of Internal and Cardiovascular Medicine, Department of Medicine, University of Perugia, Perugia, Italy.
authors: P
authors: P
authors: Gresele
authors: P
authors: P
authors: Harrison
authors: L
authors: L
authors: Bury
authors: E
authors: E
authors: Falcinelli
authors: C
authors: C
authors: Gachet
authors: C P
authors: CP
authors: Hayward
authors: D
authors: D
authors: Kenny
authors: D
authors: D
authors: Mezzano
authors: A D
authors: AD
authors: Mumford
authors: D
authors: D
authors: Nugent
authors: A T
authors: AT
authors: Nurden
authors: S
authors: S
authors: Orsini
authors: M
authors: M
authors: Cattaneo
mesh_terms: D001791:Blood Platelet Disorders / Q000175:diagnosis*; D001792:Blood Platelets / Q000166:cytology; D002309:Cardiology / Q000592:standards; D019411:Clinical Laboratory Techniques; D005434:Flow Cytometry; D006801:Humans; D007391:International Cooperation; D008854:Microscopy, Electron; D015539:Platelet Activation; D010974:Platelet Aggregation; D010976:Platelet Count; D010979:Platelet Function Tests / Q000295:instrumentation*; D012955:Societies, Medical; D011795:Surveys and Questionnaires
keywords: blood platelet disorders; clinical laboratory techniques; platelet activation; platelet function tests; platelets