Pulmonary arterial hypertension unveils itself: a cancer-like progression - a case report

Pulmonary arterial hypertension (PAH) is a rare disorder with a poor prognosis, characterized by progressive remodelling of the small pulmonary arteries that precede the clinical and haemodynamic manifestations of the disease. Thus, a prompt diagnosis and early intervention are crucial.

A 39-year-old pregnant women presented with persistent severe hypoxaemia after the diagnosis of influenza B and an elective caesarean delivery at 33 weeks. Ten months after, an extensive and inconclusive investigation that included a lung biopsy, despite of a spontaneous improvement in oxygen saturation, clinical deterioration led to further testing, namely genetic screening. It revealed a fast-progressing case of hereditary PAH caused by BMRP2 mutation.

This case highlights the challenges of a timely diagnosis of PAH and the importance of close clinical monitoring of patients at high risk of PAH. In addition, it emphasizes the fast development of severe haemodynamic changes associated with a BMPR2 mutation. The availability of a lung biopsy without signs of pulmonary vascular disease (PVD) and a right heart catheterization with mild pulmonary hypertension at the baseline assessment demonstrates that PVD can progress in a neoplastic-like manner in a matter of months.