Dyspnoea and diffuse pulmonary nodules in a patient with pulmonary veno-occlusive disease: a case report and literature review

He, Yang; Xie, Min; Liu, Xiansheng

doi:10.1177/0300060520986689

Cited by 2 publications

(1 citation statement)

References 21 publications

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“…However, the pathophysiological association between biallelic EIF2AK4 loss-of-function mutations and pulmonary vascular cell proliferation and remodeling remains unclear. To date, no functional studies have assessed the effects of nonsense or frameshift mutations and their truncated protein products on the activity of the encoded EIF2AK4 protein [ 9 ]. The absence of a molecular mechanism that relates the abrogated function of the protein to the phenotype remains a major hurdle in our understanding of the disease [ 8 ].…”

Section: Discussionmentioning

confidence: 99%

A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease

Zhang

Wang

et al. 2022

BMC Pulm Med

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Background Pulmonary veno-occlusive disease (PVOD) is a rare, progressive, and oft-fatal condition of pulmonary arterial hypertension that is typically difficult to diagnose and treat. However, with the development of next-generation sequencing technology, an increasing number of patients with PVOD are being diagnosed. Methods Initially, we used whole exome sequencing (WES) to identify the proband as a rare compound heterozygous mutation of EIF2AK4 in PVOD. Subsequently, the parents of patient underwent EIF2AK4 screening by Sanger sequencing. Results In this study, we describe the family tree of a patient with PVOD with a rare compound heterozygous EIF2AK4 mutation. Moreover, we identified a new EIF2AK4 mutation, c.2236_2237insAAGTCCTTCT, in exon 12 of the proband and his mother. This frameshift mutation led to premature termination of the coding protein sequence and widespread loss of protein function, which promoted the development of PVOD. Conclusions Our results expand our understanding of the EIF2AK4 mutation spectrum in patients with PVOD, as well as highlight the clinical applicability of WES.

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Section: Discussionmentioning

confidence: 99%

A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease

Zhang

Wang

et al. 2022

BMC Pulm Med

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Pulmonary veno‐occlusive disease: A systematic review of risk factors, clinical presentation, diagnostic investigations, treatment outcomes and prognostic factors

Thong,

Hakak‐Zargar,

Burns

et al. 2024

J Med Imag Rad Onc

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SummaryPulmonary veno‐occlusive disease (PVOD) is a rare cause of pulmonary hypertension. We aimed to systematically evaluate published cases of PVOD to provide an overview of their clinical presentation, management and prognosis to assist early identification and treatment. We conducted a literature search of PubMed and Embase databases for adult cases of ‘pulmonary veno‐occlusive disease’ and ‘pulmonary capillary haemangiomatosis’. Data collected included baseline demographics, medical history, clinical presentation, investigations performed, treatment and outcome. Kaplan–Meier survival analysis was used for overall survival with Cox‐hazards‐regression model used to evaluate treatment outcomes and prognostic factors. A total of 257 cases of PVOD from 113 articles were included in our analysis (mean age 45 ± 17 years, 54% females). Most frequent associations were smoking (28%), systemic sclerosis (10%) and mitomycin exposure (9%). Cardinal CT chest findings included ground glass opacities (75%), interlobular septal thickening (74%) and lymphadenopathy (51%); however, all three features were only seen in 23% (35/151). Median overall survival was 12 months (interquartile range, 3–48 months). Lung transplantation was the only treatment associated with improved survival (P = 0.006). Right ventricular dilatation (P = 0.005), increased mean pulmonary artery pressure (P = 0.01) and reduced 6‐minute walk distance (P = 0.04) were associated with poorer overall survival. This systematic review provides a clinically relevant overview of a rare and often fatal condition. There is need for early diagnosis and referral for consideration of lung transplantation, while recognising right ventricular dilatation and elevated pulmonary pressures portend poorer prognosis. PROSPERO international register CRD42024553829.

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Dyspnoea and diffuse pulmonary nodules in a patient with pulmonary veno-occlusive disease: a case report and literature review

Cited by 2 publications

References 21 publications

A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease

A rare compound heterozygous EIF2AK4 mutation in pulmonary veno-occlusive disease

Pulmonary veno‐occlusive disease: A systematic review of risk factors, clinical presentation, diagnostic investigations, treatment outcomes and prognostic factors

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