ABSTRACT
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. Aim(s): To report thrombotic events and their management in two unrelated patients with BSS and GT. Method(s): We reviewed clinical records of two unrelated sibling pairs of the Spanish Project of Inherited Platelet Disorders. Cases A1 (female, 61 yr) and A2 (male, 59 yr) were diagnosedwith BSS due to the homozygous GP9 variant c.182A > G [p.Asn61Ser]. Cases B1 (female, 23 yr) and B2 (male, 16 yr) had type II GT caused by homozygous ITGA2B variant c.2113 T > C [p.Cys705Arg]). Result(s): 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 58 yr, 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 She was withdrawn from oral contraceptives and started full dose LMWH which lasted 5 months.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.