PB0358 - Hereditary Bleeding Disorders Web-based Registry of Patients with Inherited platelet disorders

Sunday, June 25, 2023

18:30 – 19:30 ET

Room: Exhibition

Presenting Author(s)

Natsaruth Songthawee, MD

Instructor
Department of Pediatrics, Faculty of Medicine, Prince of Songkla University, Songkhla, Thailand
Hat Yai, Songkhla, Thailand

Co-Author(s)

Nongnuch Sirachainan, MD

Prof.
Faculty of Medicine Ramathibodi hospital, Mahidol University, Bangkok, Thailand
Bangkok, Krung Thep, Thailand
Ampaiwan Chuansumrit

Professor
Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand
Bangkok, Krung Thep, Thailand
Rungrote Natesirinilkul, MD

Associate Professor
Department of Pediatrics, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand
Chiang Mai, Chiang Mai, Thailand
Ponlapat Rojnuckarin, MD, PhD (he/him/his)

Professor
Excellence Center in Translational Hematology, Department of Medicine, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
Bangkok, Krung Thep, Thailand
Darintr Sosothikul, MD (she/her/hers)

Associate Professor
Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok, Thailand
Bangkok, Krung Thep, Thailand
TR

Theera Ruchutrakool

Associate Professor
Department of Medicine, Faculty of Medicine Siriraj Hospital, Mahidol University, Bangkok, Thailand
Bangkok, Krung Thep, Thailand

Background: Inherited platelet disorders (IPDs) are a rare heterogenous diseases affecting either platelet count and/or functions. Diagnosis of IPDs requires high-cost specialized tests; therefore, there is limited information of IPDs in resource-constrained countries due to diagnostic challenges. In order to collect information, the Thai Society of Hematology supports establishment of the National Web-based Registry in 2020.

Aims: To evaluates registered Thai IPDs patients.

Methods: Data of IPD patients were collected in the registry. This study was approved by the local institutional ethics committees and informed consents were obtained.

Results: 107 patients (42 platelet dysfunction and 65 thrombocytopenia) from 4 university hospitals were registered with a median age at diagnosis of 4 years (IQR 1-12.5). Patients with platelet dysfunction more frequently presented with epistaxis, ecchymosis, and gum bleeding than thrombocytopenic patients, while gastrointestinal bleeding and asymptomatic patients were more frequent in thrombocytopenic patients. Blood smear, bleeding time, and platelet aggregometry were among the frequently utilized investigations; genetic confirmation was performed in 55.1%. Thrombocytopenic patients had a higher mortality than those with platelet dysfunction (Table). MYH9-related disease (MYH9-RD) and Glanzmann thrombasthenia were the most prevalent IPDs, each accounting for 23.4% (Figure). Patients with MYH9-RD had a higher median age at diagnosis (13.0 vs. 3.6 years, p < 0.001) and a higher percentage of asymptomatic patients at presentation than those with other IPDs (64.0% vs. 12.2%, p < 0.001); 20% of MYH9-RD patients had non-hematologic manifestations. After establishment of the registry, 23 new patients (21.5%) were diagnosed and the diagnostic rate has been increased over time (1.0, 1.9, 5.8, 7.7 cases/year before 2000, 2000-2009, 2010-2019, and after 2020, respectively).

Conclusion(s): IPDs with thrombocytopenia and a moderate-severe bleeding phenotype were the most prevalent type in Thailand. The National Registry is a useful tool for increasing IPD diagnosis and a crucial resource for policymaking and government advocacy.