CONGRESS ABSTRACT

Introduction Pulmonary hypertension (PH) is a common complication in patients affected by thalassemia major, caused by increased pulmonary resistance due to chronic hypoxia and other factors. Chronic transfusion and chelation therapies can prevent PH, while splenectomy increases the risk of pulmonary embolism and PH. Patients with β-thalassemia and PH are often categorized among group 5 PH and typically have additional comorbidities like pulmonary thromboembolic disease. Treatment options are not well defined, lacking definitive data from randomized studies (1).  Clinical case We report the case of a 50-year-old man affected by thalassemia major, with an episode of septic pulmonary embolism in 2007, leading to inoperable post-thromboembolic pulmonary hypertension. In 2010 he came to our attention for worsening dyspnea (WHO functional class III) and palpitations.  In this occasion Sildenafil was added to the initial therapy (digitalis, diuretics, and anticoagulants), improving his symptoms (WHO class II). In 2015, worsening dyspnea (WHO class III) led to the addition of macitentan, enhancing  his condition (WHO class II). In January 2022, further dyspnea led to the addition of selexipag with subsequent improvement in functional class and 6-minute walking test performance. Since October 2024 he remains stable on triple-specific PAH (sildenafil, macitentan, Selexipag) therapy with no hospitalizations or significant side effects. Conclusion PH specific therapies have been evaluated in small series or case reports, showing no proven benefit, thus their use should be limited to patients with clear hemodynamic evidence of pre-capillary PH. Some small studies indicate potential benefits of targeted PH therapies in β-thalassemia patients. They primarily focus on Sildenafil and less on endothelin receptor antagonists or epoprostenol. Therapeutic options for group 5 patients are not well defined and lack support from randomized clinical studies. ESC/ERS guidelines suggest careful assessment and tailored therapy (1). In our patient, after transfusion therapy failed, selexipag was initiated, reducing dyspnea, TRV values and improving 6MWT performance without adverse events after almost three years.  References Humbert M, Kovacs G, Hoeper MM, et al. 2022 ESC/ERS guidelines for the diagnosis and treatment of pulmonary hypertension. Eur Heart J. 2022 Oct 11;43 (38):3618-731.