Extract
Pulmonary veno-occlusive disease (PVOD) is a rare form of pulmonary arterial hypertension (PAH), characterised by a specific phenotype and associated with a poor prognosis, often justifying an early referral for lung transplantation [1–4]. The pathological hallmark of PVOD is a preferential involvement of the pulmonary venous system with the obliteration of small pulmonary veins by fibrous intimal thickening and patchy capillary proliferation [5].
Abstract
Comprehensive evaluation as well as longitudinal follow-up of a cohort of EIF2AK4 heterozygous variant carriers did not raise any suspicion of pulmonary veno-occlusive disease (PVOD), confirming the recessive inheritance of EIF2AK4-linked PVOD https://bit.ly/3H8wPVR
Acknowledgements
The authors thank all patients, relatives, physicians and healthcare professionals from the French Pulmonary Hypertension Reference Network (PulmoTension).
Footnotes
Conflict of interest: B. Lechartier has nothing to disclose. B. Girerd has nothing to disclose. M. Eyries has nothing to disclose. A. Beurnier has nothing to disclose. M. Humbert reports grants and personal fees from Acceleron, Janssen and Merck, and personal fees from Altavant, Morphogen-IX and Bayer, outside the submitted work. D. Montani reports grants and personal fees from Acceleron, Janssen and Merck, and personal fees from Bayer, outside the submitted work.
Support statement: The DELPHI-4 study (NCT03902353) was funded by the Fonds de Recherche en Santé Respiratoire (FRSR). B. Lechartier is a recipient of a grant from the Fondation Juchum and the Ligue Pulmonaire Vaudoise.
- Received April 12, 2022.
- Accepted June 6, 2022.
- Copyright ©The authors 2022. For reproduction rights and permissions contact permissions{at}ersnet.org
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