PB1384 - Survey on Functional and Molecular Characterization of Inherited Platelet Disorders in Spain

Tuesday, June 27, 2023

18:30 – 19:30 ET

Room: Exhibition

Co-Author(s)

AH

Alberto Hernandez Sanchez

MD
Hematology Department, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigación Biomédica de Salamanca (IBSAL), Universidad de Salamanca (USAL), Spain
Salamanca, Castilla y Leon, Spain

Co-Author(s)

AR

Agustín Rodríguez-Alén

MD
Hematology Department, Hospital Universitario de Toledo, Spain
Toledo, Castilla-La Mancha, Spain
TS

Teresa Sevivas

MD
Department of Blood and Transfusion Medicine, Coimbra Hospital and Universitary Centre, Portugal
Coimbra, Coimbra, Portugal
Nuria Revilla, MD, PhD

Hospital Universitario Fundación Jiménez Díaz, Instituto Investigación Sanitaria FJD (IIS-FJD) Madrid, Spain.
Madrid, Madrid, Spain

Presenting Author(s)

José RIVERA Rivera, PhD

PhD
Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, Murcia, Spain
Murcia, Murcia, Spain

Co-Author(s)

JB

José María Bastida

MD
Hematology Department, Complejo Asistencial Universitario de Salamanca (CAUSA), Instituto de Investigación Biomédica de Salamanca (IBSAL), Universidad de Salamanca (USAL), Spain
Salamanca, Castilla y Leon, Spain

Background: In recent years, there has been advances in the accurate diagnosis at the functional and molecular level of inherited platelet disorders (IPD).

Aims: To obtain an updated view of the approach and the laboratory tools used in Spain for IPD diagnosis.

Methods: A digital-format survey with 53 multiple-choice, dichotomous and open-ended questions was conducted (April 4th-May 17th, 2022), among centers dealing with IPD patients.

Results: After removing duplicates, 62 out of 73 responses were analyzed. Most centers (84%) perform clinical follow-up of patients with suspected IPD, evaluating annually 300 pediatric and 800 adult patients. In 73%, platelet function tests are performed in cases with pathological ISTH-BAT score, normal baseline coagulation and normal von Willebrand factor level. The frequencies of use of laboratory tests in first and second–step studies are summarized in Figures 1 and 2. PFA-100, platelet aggregometry and flow cytometry are the most commonly used. Molecular studies are requested by 96%, but it is internally available in only 23% of the centers. HTS-targeted genes panels (75%) and/or clinical whole exome sequencing (50%), are the preferred used methods, with great variability in the analyzed genes. 93% centers would consider including patients in a clinical registry, but only 42% are aware of an available one. 79% responders support reference centers for patient face-to-face or telematic follow-up depending on their needs.

Conclusion(s): This survey updates the Spanish situation of IPD diagnosis in the genomic era. The overall diagnostic approach is similar between centers, but there is considerable variability in the availability and use of laboratory tools. The value of genetic diagnosis is generally appreciated, but there is no consensus on how to perform it. We detect needs to further advertise and promote the use Spanish Registry of IPD (RETPLAC), and developing a national guideline for IPD diagnosis and management.