Quantitation of bleeding symptoms in a national registry of patients with inherited platelet disorders

Background: Inherited platelet deficiency and/or dysfunctionmay be more common in the general population than has previously been appreciated. In 2013 the Israeli Inherited Platelet Disorder (IPD) Registry was established. Methods: Clinical and laboratory data were collected to pre-specified registration forms. The study protocol was approved by the local hospital ethics committees. Results: To date we have included in the registry 89 patients (male 52%) from 79 families. Most patients (74%) have a not-yet specified inherited thrombocytopenia (n = 39) or non-specific platelet function disorder (n = 27). Full clinical data were available for 81 (91%) patients. The median (range) age at presentation and time of follow-upwere 1.8 years (1 day-17.8 years) and 4.7 (0-26) years, respectively. The Pediatric Bleeding Questionnaire was available for 78 patients; abnormal bleeding score (>= 2) was recorded in 47 (52.8%, 95% CI 42%-63.5%) patients and was less frequent in patients followed for isolated thrombocytopenia. Abnormal score was associated with a longer time of follow-up, OR 1.19 (95% CI 1.04-1.36). Conclusion: Long term follow-up of patients with IPDs is important as bleeding risksmay increase with time. We expect that clinical and laboratory information of patients/families with IPDs gathered in a systemic format will allow for better diagnosis and treatment of these patients. (C) 2016 Elsevier Inc. All rights reserved.