open access

Vol 86, No 3 (2018)
REVIEWS
Published online: 2018-06-30
Submitted: 2018-03-19
Accepted: 2018-05-29
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Pulmonary veno-occlusive disease: pathogenesis, risk factors, clinical features and diagnostic algorithm — state of the art

Monika Szturmowicz, Aneta Kacprzak, Małgorzata Szołkowska, Barbara Burakowska, Ewa Szczepulska, Jan Kuś
DOI: 10.5603/ARM.2018.0021
·
Adv Respir Med 2018;86(3):131-141.

open access

Vol 86, No 3 (2018)
REVIEWS
Published online: 2018-06-30
Submitted: 2018-03-19
Accepted: 2018-05-29

Abstract

Pulmonary veno-occlusive disease (PVOD) and pulmonary capillary haemangiomatosis (PCH) are rare disorders, with the estimated prevalence of less than 1 case per million inhabitants. The vascular pathology in PVOD/PCH involves pre-septal and septal veins, alveolar capillaries and small pulmonary arteries. According to the ERS/ESC classification of pulmonary hypertension (PH) from 2015, PVOD/PCH have been included in the subgroup 1’ of pulmonary arterial hypertension (PAH). Recent data indicate, however, the possibility of PVOD/PCH pathology in the patients diagnosed in the group 1. The problem may concern PAH associated with scleroderma, drug- induced PAH, PAH due to HIV infection and up to 10% of patients with idiopathic PAH (IPAH). Recently, bi-allelic EIF2AK4 mutations were found in the cases with heritable form of PVOD/PCH and in about 9% of sporadic cases. Moreover, an association between occupational exposure to organic solvents and PVOD/PCH was proved. The present review is an attempt to summarise the current data on pathogenesis, risk factors, clinical features and diagnostic algorithm for PVOD/PCH.

Abstract

Pulmonary veno-occlusive disease (PVOD) and pulmonary capillary haemangiomatosis (PCH) are rare disorders, with the estimated prevalence of less than 1 case per million inhabitants. The vascular pathology in PVOD/PCH involves pre-septal and septal veins, alveolar capillaries and small pulmonary arteries. According to the ERS/ESC classification of pulmonary hypertension (PH) from 2015, PVOD/PCH have been included in the subgroup 1’ of pulmonary arterial hypertension (PAH). Recent data indicate, however, the possibility of PVOD/PCH pathology in the patients diagnosed in the group 1. The problem may concern PAH associated with scleroderma, drug- induced PAH, PAH due to HIV infection and up to 10% of patients with idiopathic PAH (IPAH). Recently, bi-allelic EIF2AK4 mutations were found in the cases with heritable form of PVOD/PCH and in about 9% of sporadic cases. Moreover, an association between occupational exposure to organic solvents and PVOD/PCH was proved. The present review is an attempt to summarise the current data on pathogenesis, risk factors, clinical features and diagnostic algorithm for PVOD/PCH.

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Keywords

pulmonary venoocclusive disease; risk factors; genetic dependence

About this article
Title

Pulmonary veno-occlusive disease: pathogenesis, risk factors, clinical features and diagnostic algorithm — state of the art

Journal

Advances in Respiratory Medicine

Issue

Vol 86, No 3 (2018)

Pages

131-141

Published online

2018-06-30

DOI

10.5603/ARM.2018.0021

Bibliographic record

Adv Respir Med 2018;86(3):131-141.

Keywords

pulmonary venoocclusive disease
risk factors
genetic dependence

Authors

Monika Szturmowicz
Aneta Kacprzak
Małgorzata Szołkowska
Barbara Burakowska
Ewa Szczepulska
Jan Kuś

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