Association Between BMPR2 Mutations and Iron Metabolism in Pulmonary Arterial Hypertension Patients

Background: Iron deficiency is common in pulmonary arterial hypertension (PAH) patients and leads to a significantly reduced 6-minute walking distance (6MWD), a higher WHO functional class and greater mortality. Iron metabolism is regulated via the hormone hepcidin, which is upregulated by the binding of bone morphogenetic proteins, to the bone morphogenetic protein receptor 2 (BMPR2). Hepcidin is increased in iron deficient idiopathic and hereditary PAH (I/HPAH) patients falsely signaling iron abundance. At the same time, 25% of IPAH and 85% of HPAH patients carry pathogenic variants in the BMPR2 gene.