Pulmonary arterial hypertension preceding idiopathic pulmonary fibrosis in a BMPR2 mutation positive patient

Abstract

To the Editor: When pulmonary hypertension (PH) develops in a patient with idiopathic pulmonary fibrosis (IPF) it is usually categorised in World Health Organization (WHO) group III: PH associated with chronic lung disease and/or hypoxia [1]. Given the fact that pulmonary arterial hypertension (PAH) (WHO group I) and IPF are both rare and fatal diseases, their manifestation in a single patient is unlikely to occur by chance. Here, we describe for the first time the concurrent development of IPF and PH in a patient with a bone morphogenetic protein receptor type 2 ( BMPR2) mutation. An 80-year-old female presented with fever, chills, shortness of breath, chest pain and a decline in exercise tolerance. She had been diagnosed 3 years before with hereditary PAH (HPAH) associated with a BMPR2 mutation (c.637C>T; p.Arg213X (reference sequence NM_001204)), for which she received ambrisentan, sildenafil and diuretic treatment. Right heart catheterisation at the time of HPAH diagnosis had shown a mean pulmonary artery pressure of 42 mmHg and a pulmonary arterial wedge pressure of 2 mmHg. Pulmonary function tests had shown a vital capacity of 2.7 L (139%) and a forced expiratory volume in 1 s of 2.3 L (144%). She was a former smoker and denied the …