PB1245 - Uncommon arterial and venous thrombotic complications in Bernard Soulier Syndrome and Glanzmann Thrombasthenia patients

Tuesday, July 12, 2022

6:30 PM – 7:30 PM

Location: Exhibition

Presentation Format: In-Person

Co-Author(s)

AS

Ana Sánchez-Fuentes, PhD

Hematologist
Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER-U765, Murcia
Murcia, Murcia, Spain
FG

Faustino García Candel

Hematology Department
Hospital Clínico Universitario Virgen de la Arrixaca (Murcia)
Murcia, Murcia, Spain
AN

Ana Nicolá-Sandoval

PhD student
Centro Regional de Hemodonación-IMIB
Murcia, Murcia, Spain
MV

María J.. Varo

MD
Hospital General Universitario de Albacete
Albacete, Castilla-La Mancha, Spain
Ana Zamora-Cánovas

Biotechnology
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
VP

Verónica Palma-Barqueros, Posdoc

Posdoc
Centro Regional de Hemodonación- IMIB
Mur, Murcia, Spain
NR

Nuria Revilla

MD
Department of Hematology, Hospital Universitario Fundación Jiménez Díaz, Instituto Investigación Sanitaria FJD (IIS-FJD) Madrid, Spain.
Madrid, Madrid, Spain
AR

Agustín Rodríguez-Alén

MD
Hematology Department, Hospital Universitario de Toledo, Spain
Toledo, Castilla-La Mancha, Spain
Ana Marin-Quilez, MSc

Postdoctoral researcher
Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, University of Murcia, IMIB, CIBERER-U765, Murcia, Spain
Murcia, Murcia, Spain
LD

Lorena Díaz-Ajenjo

Predoctoral researcher
Cancer Research Center - CSIC, University of Salamanca, Instituto de Investigación Biomédica de Salamanca (IBSAL), Spain
Salamanca, Castilla y Leon, Spain
AT

Alexandra Torrecillas

Technician
Centro Regional de Hemodonación-IMIB
Murcia, Murcia, Spain
VV

Vicente Vicente

Researcher and Medical Doctor
Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER, Murcia, Spain
Murcia, Murcia, Spain
ML

María Luisa Lozano

Leader of Hematology Service in Murcia
Servicio de Hematología y Oncología Médica, Hospital Universitario Morales Meseguer, Centro Regional de Hemodonación, Universidad de Murcia, IMIB-Pascual Parrilla, CIBERER, Murcia, Spain
Murcia, Murcia, 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)

Jose Mª Bastida, PhD, MD

Hematology Department
Complejo Asistencial Universitario de Salamanca-IBSAL-USAL (Salamanca)
Salamanca, Castilla y Leon, Spain

Background: Bernard Soulier Syndrome (BSS) and Glanzmann Thrombasthenia (GT) patients present frequent and relevant bleeding complications due to remarkable platelet dysfunction, while thrombotic events are very rare.

Aims: To report thrombotic events and their management in two unrelated patients with BSS and GT.

Methods: We reviewed clinical records of two unrelated sibling pairs of the Spanish Project of Inherited Platelet Disorders. Cases A1 (female, 61yr) and A2 (male, 59yr) were diagnosedwith BSS due to the homozygous GP9 variant c.182A>G [p.Asn61Ser]. Cases B1 (female, 23yr) and B2 (male, 16yr) had type II GT caused by homozygous ITGA2B variant c.2113T>C [p.Cys705Arg]).

Results: Mucocutaneous bleeding is the lifelong relevant, almost exclusive, clinical feature in A1 (ISTH-BAT=12) and B1 (ISTH-BAT= 4), while less severe in A2 (ISTH-BAT=2) and B2 (ISTH-BAT=2). Case A2, at age of 58yr, was admitted at the hospital due to angor pectoris and underwent coronary angiography revealing severe disease in right and circumflex coronary arteries . Percutaneous coronary angioplasty (PCA) was performed with implantation of five drug-eluting stent (DES). He was discharged on standard aspirin and clopidogrel treatment.
Case B1, was admitted to hospital at age 21 for dyspnea and fever. Laboratory findings showed low hemoglobin and elevated D-Dimer. Computerized tomographic pulmonary angiography showed lingular artery thrombosis. She was withdrawn from oral contraceptives and started full dose LMWH which lasted 5 months. Thrombophilia studies (antithrombin, proteins C and S, lupus anticoagulant and cardiolipin antibodies, FV Leiden and G20210 prothrombin) were negative. Two months after the thrombotic episode she was diagnosed with uncomplicated SARS-Cov-2 infection.

Conclusion(s): These patients illustrate that platelet dysfunction in BSS and GT does not exclude for thrombotic complications, which may be triggered by individual genetic and environmental factors, requiring individualized antithrombotic treatment.