Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-occlusive Disease

Neal F Chaisson; Mark W Dodson; Charles Gregory Elliott

doi:10.1016/j.ccm.2016.04.014

Pulmonary Capillary Hemangiomatosis and Pulmonary Veno-occlusive Disease

Clin Chest Med. 2016 Sep;37(3):523-34. doi: 10.1016/j.ccm.2016.04.014. Epub 2016 Jun 30.

Authors

Neal F Chaisson¹, Mark W Dodson², Charles Gregory Elliott³

Affiliations

¹ Respiratory Institute, Cleveland Clinic, Lerner College of Medicine of Case Western Reserve University, 9500 Euclid Avenue, A-90, Cleveland, OH 44195, USA.
² Pulmonary Division, University of Utah, 24 North 1900 East Wintrobe Building, Room 701, Salt Lake City, UT 84132, USA; Department of Medicine, Intermountain Medical Center, 5121 South Cottonwood Street, Suite 307, Murray, UT 84107, USA.
³ Pulmonary Division, University of Utah, 24 North 1900 East Wintrobe Building, Room 701, Salt Lake City, UT 84132, USA; Department of Medicine, Intermountain Medical Center, 5121 South Cottonwood Street, Suite 307, Murray, UT 84107, USA. Electronic address: greg.elliott@imail.org.

PMID: 27514598
DOI: 10.1016/j.ccm.2016.04.014

Abstract

This article provides an overview of pulmonary veno-occlusive disease (PVOD) and pulmonary capillary hemangiomatosis (PCH), two disorders that challenge clinicians, radiologists, and pathologists because they often mimic pulmonary arterial hypertension (PAH). The article reviews the features that differentiate PVOD and PCH from PAH. The article also describes the overlap of PVOD and PCH, highlighted by recent reports of families diagnosed with PVOD or PCH caused by EIF2AK4 mutations. In addition, the article outlines current approaches to the diagnosis and treatment of PVOD and PCH.

Keywords: Genetics; Pulmonary capillary hemangiomatosis; Pulmonary disorder; Pulmonary hypertension; Pulmonary veno-occlusive disease.

Publication types

Review

MeSH terms

Diagnosis, Differential
Hemangioma, Capillary / diagnosis*
Hemangioma, Capillary / genetics
Hemangioma, Capillary / pathology
Hemangioma, Capillary / physiopathology
Humans
Hypertension, Pulmonary / diagnosis*
Hypertension, Pulmonary / physiopathology
Lung Neoplasms / diagnosis*
Lung Neoplasms / genetics
Lung Neoplasms / pathology
Lung Neoplasms / physiopathology
Mutation
Neoplasms, Multiple Primary / diagnosis*
Neoplasms, Multiple Primary / genetics
Neoplasms, Multiple Primary / pathology
Neoplasms, Multiple Primary / physiopathology
Protein Serine-Threonine Kinases / genetics
Pulmonary Veno-Occlusive Disease / diagnosis*
Pulmonary Veno-Occlusive Disease / genetics
Pulmonary Veno-Occlusive Disease / pathology
Pulmonary Veno-Occlusive Disease / physiopathology

Substances

EIF2AK4 protein, human
Protein Serine-Threonine Kinases