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.
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.
Authors: D Nance; R A Campbell; J W Rowley; J M Downie; L B Jorde; W H Kahr; S A Mereby; N D Tolley; G A Zimmerman; A S Weyrich; M T Rondina Journal: J Thromb Haemost Date: 2016-10-20 Impact factor: 5.824
Authors: Andreas Engert; Carlo Balduini; Anneke Brand; Bertrand Coiffier; Catherine Cordonnier; Hartmut Döhner; Thom Duyvené de Wit; Sabine Eichinger; Willem Fibbe; Tony Green; Fleur de Haas; Achille Iolascon; Thierry Jaffredo; Francesco Rodeghiero; Gilles Salles; Jan Jacob Schuringa Journal: Haematologica Date: 2016-01-27 Impact factor: 9.941
Authors: Ilenia Simeoni; Jonathan C Stephens; Fengyuan Hu; Sri V V Deevi; Karyn Megy; Tadbir K Bariana; Claire Lentaigne; Sol Schulman; Suthesh Sivapalaratnam; Minka J A Vries; Sarah K Westbury; Daniel Greene; Sofia Papadia; Marie-Christine Alessi; Antony P Attwood; Matthias Ballmaier; Gareth Baynam; Emilse Bermejo; Marta Bertoli; Paul F Bray; Loredana Bury; Marco Cattaneo; Peter Collins; Louise C Daugherty; Rémi Favier; Deborah L French; Bruce Furie; Michael Gattens; Manuela Germeshausen; Cedric Ghevaert; Anne C Goodeve; Jose A Guerrero; Daniel J Hampshire; Daniel P Hart; Johan W M Heemskerk; Yvonne M C Henskens; Marian Hill; Nancy Hogg; Jennifer D Jolley; Walter H Kahr; Anne M Kelly; Ron Kerr; Myrto Kostadima; Shinji Kunishima; Michele P Lambert; Ri Liesner; José A López; Rutendo P Mapeta; Mary Mathias; Carolyn M Millar; Amit Nathwani; Marguerite Neerman-Arbez; Alan T Nurden; Paquita Nurden; Maha Othman; Kathelijne Peerlinck; David J Perry; Pawan Poudel; Pieter Reitsma; Matthew T Rondina; Peter A Smethurst; William Stevenson; Artur Szkotak; Salih Tuna; Christel van Geet; Deborah Whitehorn; David A Wilcox; Bin Zhang; Shoshana Revel-Vilk; Paolo Gresele; Daniel B Bellissimo; Christopher J Penkett; Michael A Laffan; Andrew D Mumford; Augusto Rendon; Keith Gomez; Kathleen Freson; Willem H Ouwehand; Ernest Turro Journal: Blood Date: 2016-04-15 Impact factor: 25.476
Authors: Sarah K Westbury; Matthias Canault; Daniel Greene; Emilse Bermejo; Katharine Hanlon; Michele P Lambert; Carolyn M Millar; Paquita Nurden; Samya G Obaji; Shoshana Revel-Vilk; Chris Van Geet; Kate Downes; Sofia Papadia; Salih Tuna; Christopher Watt; Kathleen Freson; Michael A Laffan; Willem H Ouwehand; Marie-Christine Alessi; Ernest Turro; Andrew D Mumford Journal: Blood Date: 2017-06-21 Impact factor: 22.113
Authors: Isabel Sánchez-Guiu; Ana I Antón; José Padilla; Francisco Velasco; José F Lucia; Miguel Lozano; Ana Rosa Cid; Teresa Sevivas; María F Lopez-Fernandez; Vicente Vicente; Consuelo González-Manchón; José Rivera; María L Lozano Journal: Orphanet J Rare Dis Date: 2014-12-24 Impact factor: 4.123