The wide spectrum of β-thalassaemia intermedia-induced pulmonary hypertension: two case reports on the possible role of specific pulmonary arterial hypertension therapy

Abstract

Pulmonary hypertension (PH) development remains a significant cardiovascular complication of haemoglobinopathies, severely affecting the morbidity and mortality of such patients. According to the 5th World Symposium on PH, PH related with chronic haemolytic anaemias is classified in group 5, mainly due to the multifactorial pathophysiology of PH in this patient population. There are no clear guidelines regarding the management of PH in patients with haemoglobinopathies; the use of specific pulmonary arterial hypertension (PAH) therapy in patients with β-thalassaemia and PH is based on data derived from other forms of PH, expert opinion and small series or case reports. The existing knowledge on the use of specific-PAH therapy in β-thalassaemia patients with PH is limited, and in most cases the diagnosis of PH is based on echocardiographic findings only. We herein report two patients with β-thalassaemia intermedia (TI) and PH, who got same initial approach but different outcome, to highlight the wide spectrum of TI-induced PH, the importance of optimal disease-directed therapy and the possible role of specific-PAH therapy. We also emphasize the central role of right heart catheterization in the diagnosis and follow-up of PH, since this information does facilitate the suitable use or withdrawal of specific PAH drugs in these patients.