title: Quantitation of bleeding symptoms in a national registry of patients with inherited platelet disorders.
abstract: Inherited platelet deficiency and/or dysfunction may be more common in the general population than has previously been appreciated. In 2013 the Israeli Inherited Platelet Disorder (IPD) Registry was established.
  
  
  
  Clinical and laboratory data were collected to pre-specified registration forms. The study protocol was approved by the local hospital ethics committees.
  
  
  
  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-up were 1.8years (1day-17.8years) and 4.7 (0-26) years, respectively. The Pediatric Bleeding Questionnaire was available for 78patients; 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).
  
  
  
  Long term follow-up of patients with IPDs is important as bleeding risks may 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.
authors.affiliation: Pediatric Hematology/Oncology Department, Hadassah - Hebrew University Medical Center, Jerusalem, Israel. Electronic address: shoshanav@hadassah.org.il.
authors.forename: Shoshana
authors.initials: S
authors.lastname: Revel-Vilk
authors.affiliation: Pediatric Hematology/Oncology Department, Hadassah - Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Chana
authors.initials: C
authors.lastname: Richter
authors.affiliation: Pediatric Hematology/Oncology Department, Hadassah - Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Tal
authors.initials: T
authors.lastname: Ben-Ami
authors.affiliation: Pediatric Hematology/Oncology Department, Schneider Children's Medical Center, Petah Tikva, Israel.
authors.forename: Joanne
authors.initials: J
authors.lastname: Yacobovich
authors.affiliation: Pediatric Hematology Unit, Barzilai University Medical Center, Ashkelon, Israel; The Faculty of Health Sciences, Ben Gurion University of the Negev, Beer Sheva, Israel.
authors.forename: Shraga
authors.initials: S
authors.lastname: Aviner
authors.affiliation: Pediatric Hematology/Oncology Department, Rambam Medical Center, Haifa, Israel.
authors.forename: Ayelet
authors.initials: A
authors.lastname: Ben-Barak
authors.affiliation: Blood Coagulation Service and Pediatric Hematology Clinic, Galilee Medical Center, Nahariya, Israel; The Faculty of Medicine in the Galilee, Bar-Ilan University, Israel.
authors.forename: Amir Asher
authors.initials: AA
authors.lastname: Kuperman
authors.affiliation: Pediatric Hematology/Oncology Department, Hadassah - Hebrew University Medical Center, Jerusalem, Israel.
authors.forename: Shira
authors.initials: S
authors.lastname: Ben-Barak
authors.affiliation: Pediatric Hematology/Oncology Department, Sheba Medical Center, Tel-Hashomer, Israel.
authors.forename: Chaim
authors.initials: C
authors.lastname: Kaplinsky
authors.affiliation: Pediatric Hematology Unit, Shari-Zedek Hospital, Jerusalem, Israel.
authors.forename: Hagit
authors.initials: H
authors.lastname: Miskin
authors.affiliation: Pediatric Hematology/Oncology Department, Schneider Children's Medical Center, Petah Tikva, Israel.
authors.forename: Hannah
authors.initials: H
authors.lastname: Tamary
authors.affiliation: National Hemophilia Center, Sheba Medical Center, Tel Hashomer, Israel.
authors.forename: Gili
authors.initials: G
authors.lastname: Kenet
mesh_terms: D000293:Adolescent; D000328:Adult; D001791:Blood Platelet Disorders / Q000150:complications* / Q000473:pathology; D001792:Blood Platelets / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006470:Hemorrhage / Q000209:etiology*; D006801:Humans; D007223:Infant; D008297:Male; D012042:Registries; D013921:Thrombocytopenia / Q000150:complications / Q000473:pathology; D055815:Young Adult
keywords: Bleeding assessment tool; Bleeding score; Inherited platelet disorders; Inherited thrombocytopenia; Registry