<abstract xmlns="http://www.w3.org/1999/xhtml">

<p>Pulmonary veno-occlusive disease (PVOD) is a rare microvasculopathy associated with dyspnoea, pulmonary arterial hypertension (PAH) and poor prognosis. A 42-year-old female, with a known history of cured thyroid neoplasm, complained of severe inspiratory progressive dyspnoea, chest pain, dry cough and asthenia. The initial investigations established the diagnosis of idiopathic PAH. Specific associated vasodilator treatment was initiated but with sildenafil intolerance. The clinical condition continued deteriorating, and thus the investigations were extended. DLCO was unnaturally low (24%). Angiography detected a minimal left distal CTEPH (not suitable for balloon angioplasty). Genetic test came positive for biallelic mutations of EIF2AK4, suggestive for PVOD. Finally, the diagnostic was changed to PAH in the PVOD context. A decision was made to refer the patient for lung transplant and to associate treprostinil treatment (with slight clinical improvement). Therefore, severe dyspnoea, hypoxia, decreased DLCO and poor response to vasodilator treatment compel physicians to search for PVOD and refer to lung transplant.</p>
</abstract>

Pulmonary veno-occlusive disease (PVOD) is a rare microvasculopathy associated with dyspnoea, pulmonary arterial hypertension (PAH) and poor prognosis. A 42-year-old female, with a known history of cured thyroid neoplasm, complained of severe inspiratory progressive dyspnoea, chest pain, dry cough and asthenia. The initial investigations established the diagnosis of idiopathic PAH. Specific associated vasodilator treatment was initiated but with sildenafil intolerance. The clinical condition continued deteriorating, and thus the investigations were extended. DLCO was unnaturally low (24%). Angiography detected a minimal left distal CTEPH (not suitable for balloon angioplasty). Genetic test came positive for biallelic mutations of EIF2AK4, suggestive for PVOD. Finally, the diagnostic was changed to PAH in the PVOD context. A decision was made to refer the patient for lung transplant and to associate treprostinil treatment (with slight clinical improvement). Therefore, severe dyspnoea, hypoxia, decreased DLCO and poor response to vasodilator treatment compel physicians to search for PVOD and refer to lung transplant.

Dyspnoea – a valuable clue in a rare disease diagnosis

Pulmonology Department II, Clinical Hospital of Infectious Diseases and Pneumophthisiology “Victor Babes” Timisoara

University of Medicine and Pharmacy “Victor Babes” Timisoara

Pneumologia

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

{"article-title":"Dyspnoea \u2013 a valuable clue in a rare disease diagnosis"}

Pulmonary veno-occlusive disease (PVOD) is a rare microvasculopathy associated with dyspnoea, pulmonary arterial hypertension (PAH) and poor prognosis. A...

Dyspnoea – a valuable clue in a rare disease diagnosis

Published Online: Jun 28, 2023

Page range: 47 - 51

DOI: https://doi.org/10.2478/pneum-2023-0015

Keywords
dyspnoea, pulmonary hypertension, pulmonary veno-occlusive disease, EIF2AK4, lung transplantation

© 2022 Larisa Dobrescu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Dyspnoea – a valuable clue in a rare disease diagnosis

Published Online: Jun 28, 2023

Page range: 47 - 51

DOI: https://doi.org/10.2478/pneum-2023-0015

Keywordsdyspnoea, pulmonary hypertension, pulmonary veno-occlusive disease, EIF2AK4, lung transplantation

© 2022 Larisa Dobrescu et al., published by Sciendo

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Keywords
dyspnoea, pulmonary hypertension, pulmonary veno-occlusive disease, EIF2AK4, lung transplantation