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Inicio Medicina Clínica (English Edition) Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis
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Vol. 148. Issue 6.
Pages 265-270 (March 2017)
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Vol. 148. Issue 6.
Pages 265-270 (March 2017)
Review
Pulmonary veno-occlusive disease and pulmonary capillary hemangiomatosis
Enfermedad venooclusiva pulmonar y hemangiomatosis capilar pulmonar
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Carlos Ortiz-Bautista
Corresponding author
ortiz.bautista.carlos@gmail.com

Corresponding author.
, Ignacio Hernández-González, Pilar Escribano-Subías
Unidad de Hipertensión Pulmonar, Servicio de Cardiología, Hospital Universitario 12 de Octubre, Madrid, Spain
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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.

Keywords:
Pulmonary hypertension
Pulmonary veno-occlusive disease
Prostacyclins
Lung transplantation
Resumen

La enfermedad venooclusiva pulmonar es una causa rara de hipertensión pulmonar que forma junto a la hemangiomatosis capilar pulmonar una designación especial (subgrupo 1′) dentro del grupo 1 de hipertensión pulmonar en la última clasificación del Simposio Mundial sobre Hipertensión Pulmonar. El reciente descubrimiento de que las mutaciones del gen eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4) son responsables de las formas hereditarias de la enfermedad venooclusiva pulmonar, ha provocado que el test genético adquiera un papel determinante en el diagnóstico de estos pacientes. A pesar de los avances en el conocimiento de las bases genéticas, celulares y moleculares de la enfermedad venooclusiva pulmonar en la última década, sigue siendo clásicamente una enfermedad pulmonar rara sin ningún tratamiento farmacológico eficaz aprobado y con un pronóstico muy pobre. El presente documento pretende revisar los avances que se han producido en el conocimiento de esta enfermedad en los últimos años.

Palabras clave:
Hipertensión pulmonar
Enfermedad venooclusiva pulmonar
Prostaciclinas
Trasplante pulmonar

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