title: Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis.
abstract: Pulmonary veno-occlusive disease is a rare cause of pulmonary hypertension which is part, together with pulmonary capillary hemangiomatosis, of the special designation (subgroup 1') within pulmonary hypertension group 1 in the latest classification of the pulmonary hypertension World Symposium. Recent discovery that gene mutations in eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) are responsible for inherited forms of pulmonary veno-occlusive disease has changed the role of genetic testing, acquiring relevant importance in the diagnosis of these patients. Despite the advances in genetic, cellular and molecular basis knowledge in the last decade, pulmonary veno-occlusive disease remains as a rare aetiology of pulmonary hypertension without any effective medical treatment approved and poor outcomes. This document aims to review the advances occurred in the understanding of pulmonary veno-occlusive disease in the last years.
authors.affiliation: Unidad de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, Madrid, España. Electronic address: ortiz.bautista.carlos@gmail.com.
authors.forename: Carlos
authors.initials: C
authors.lastname: Ortiz-Bautista
authors.affiliation: Unidad de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, Madrid, España.
authors.forename: Ignacio
authors.initials: I
authors.lastname: Hernández-González
authors.affiliation: Unidad de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, Madrid, España.
authors.forename: Pilar
authors.initials: P
authors.lastname: Escribano-Subías
mesh_terms: D018324:Hemangioma, Capillary / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology*; D008175:Lung Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D011668:Pulmonary Veno-Occlusive Disease / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D012307:Risk Factors
keywords: Enfermedad venooclusiva pulmonar; Hipertensión pulmonar; Lung transplantation; Prostaciclinas; Prostacyclins; Pulmonary hypertension; Pulmonary veno-occlusive disease; Trasplante pulmonar