Abstract
Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary hypertension (PH) characterised by preferential remodelling of the pulmonary venules. In the current PH classification, PVOD and pulmonary capillary haemangiomatosis (PCH) are considered to be a common entity and represent varied expressions of the same disease. The recent discovery of biallelic mutations in the EIF2AK4 gene as the cause of heritable PVOD/PCH represents a major milestone in our understanding of the molecular pathogenesis of PVOD. Although PVOD and pulmonary arterial hypertension (PAH) share a similar clinical presentation, with features of severe precapillary PH, it is important to differentiate these two conditions as PVOD carries a worse prognosis and life-threatening pulmonary oedema may occur following the initiation of PAH therapy. An accurate diagnosis of PVOD based on noninvasive investigations is possible utilising oxygen parameters, low diffusing capacity for carbon monoxide and characteristic signs on high-resolution computed tomography of the chest. No evidence-based medical therapy exists for PVOD at present and lung transplantation remains the preferred definitive therapy for eligible patients.
Abstract
Recent advances such as discovery of the genetic basis of PVOD will pave way for future translational research http://ow.ly/YldhC
Footnotes
Editorial comment in: Eur Respir J 2016; 47: 1334–1335.
Previous articles in this series: No. 1: Collard HR, Bradford WZ, Cottin V, et al. A new era in idiopathic pulmonary fibrosis: considerations for future clinical trials. Eur Respir J 2015; 46: 243–249. No. 2: Ryerson CJ, Cottin V, Brown KK, et al. Acute exacerbation of idiopathic pulmonary fibrosis: shifting the paradigm. Eur Respir J 2015; 46: 512–520. No. 3: Harari S, Torre O, Cassandro R, et al. The changing face of a rare disease: lymphangioleiomyomatosis. Eur Respir J 2015; 46: 1471–1485.
Conflict of interest: Disclosures can be found alongside the online version of this article at erj.ersjournals.com
- Received January 6, 2016.
- Accepted February 4, 2016.
- Copyright ©ERS 2016