Pulmonary Veno-Occlusive Disease: A Rare Cause of Pulmonary Hypertension

Hajouli, Said; Moustafa, Muhamad Alhaj; Memoli, Jessica S. Wang

doi:10.1177/2324709619840375

Cited by 6 publications

(4 citation statements)

References 33 publications

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“…A systematic review of the role of alkylating agents in the development of pulmonary hypertension published in 2015 established that alkylating agents, including cyclophosphamide, are a risk factor for the development of pulmonary veno-occlusive disease (PVOD), and exposure to cyclophosphamide leads to pulmonary venous remodeling in experimental models which, in turn, develops pulmonary hypertension [ 6 ]. PVOD is extremely rare, with its incidence being 0.1 to 0.2 cases per million every year [ 7 ], and clinically very difficult to differentiate from PAH. The gold standard for diagnosis of PAH is right heart catheterization.…”

Section: Discussionmentioning

confidence: 99%

Rare Case of Reversible Pulmonary Arterial Hypertension Secondary to Cyclophosphamide and Doxorubicin Chemotherapy

Javed¹,

Medina²,

Bux³

et al. 2022

Cureus

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Pulmonary arterial hypertension (PAH), characterized as a resting mean pulmonary artery pressure greater than 25 mmHg, is due to the narrowing of the pulmonary arteries, which can be idiopathic, inherited, or drug-related. Alkylating agents, including cyclophosphamide, are a risk factor for developing the pulmonary veno-occlusive disease. Drug-induced PAH is extremely rare. A 59-year-old female with newly diagnosed invasive ductal carcinoma of the right breast and high-grade ductal carcinoma in situ of the left breast was initiated treatment with doxorubicin and cyclophosphamide. About one week after receiving the first cycle, the patient developed worsening lower extremity edema and shortness of breath. She was then hospitalized, and a transthoracic echocardiogram and coronary angiogram revealed PAH. The team then changed the breast cancer treatment regimen to Taxol and carboplatin, and PAH was resolved in a follow-up echocardiogram after five months. This report has described the first case of PAH directly related to cyclophosphamide and doxorubicin. It is imperative to promptly recognize this rare but important sideeffect as early diagnosis and response can potentially reverse the disease progression.

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Section: Discussionmentioning

confidence: 99%

Rare Case of Reversible Pulmonary Arterial Hypertension Secondary to Cyclophosphamide and Doxorubicin Chemotherapy

Javed¹,

Medina²,

Bux³

et al. 2022

Cureus

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“…PVOD was first described by Julius Hora in the 1930s and later distinguished from IPAH in 1966 by Heath et al [ 2 , 3 ]. Due to its rarity and the lack of effective treatment options, PVOD is classified as an orphan lung disease, with an estimated prevalence of 1–2 cases per million inhabitants [ 3 ].…”

Section: Discussionmentioning

confidence: 99%

“…Clinical findings that should alert the clinician to the potential diagnosis of PVOD include high supplemental oxygen requirements, pulmonary oedema during vasoreactivity testing and a poor response to PAH targeted therapies. Relevant investigations that may also suggest the diagnosis include severe reductions in T LCO , <50% of predicted values, mediastinal adenopathy with associated septal line thickening and centrilobular ground glass opacities on computed tomography, and occult haemorrhage on bronchoalveolar lavage [ 2 , 3 , 10 ]. Interestingly RHC is not helpful to differentiate PVOD from other causes of Group 1 PAH, as it typically demonstrates a precapillary pattern, even though the principle anatomical abnormality is located on the postcapillary side.…”

Section: Discussionmentioning

confidence: 99%

An interesting case of progressive dyspnoea and diffuse mediastinal adenopathy in a 25-year-old man

Cullivan

Morris

McCormack

et al. 2021

Breathe

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“…Pulmonary veno-occlusive disease (PVOD) is a fatal lung disease characterized by diffused occlusion of postcapillary pulmonary venules, intimal thickening and smooth muscle hypertrophy [1]. Clinically, PVOD shares disease phenotype with other forms of pulmonary arterial hypertension (PAH), such as idiopathic PAH [2] or chronic thromboembolic pulmonary hypertension [3]. Vasodilating therapeutics may cause life threatening pulmonary edema in PVOD [4], which necessitates differentiating it from other PAH types.…”

Section: Introductionmentioning

confidence: 99%

Rapid disease progress in a PVOD patient carrying a novel EIF2AK4 mutation: a case report

et al. 2020

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Background Pulmonary veno-occlusive disease (PVOD) and pulmonary arterial hypertension (PAH) share an overlapping disease phenotype. Hence it is necessary to distinguish them. Case presentation Our 14-year-old female patient admitted with progressive shortness of breath, dizziness, and fatigue even after minimal physical activity was clinically suspected for PAH, based on her previous history. Her chest computed tomography artery reported the presence of PVOD triad features - subpleural thickened septal lines, ground-glass nodules/opacities and mediastinal lymphadenopathy. Because of her weak physical stature, a lung biopsy was not performed; however, the genetic testing identified a novel heterozygous EIF2AK4 mutation at c.4833_4836dup (p.Q1613Kfs*10) - the dominant susceptible factor driving PVOD. Combination of genetic testing and computed tomography artery facilitated us to distinguish PVOD from PAH. Her disease symptoms advanced aggressively so that she died even before the lung transplantation, which was less than 6 months from the onset of disease symptoms. Conclusion This case report highlights that novel EIF2AK4 mutation at [c.4833_4836dup (p.Q1613Kfs*10)] would predict an aggressive phenotype of PVOD. Hence, we conclude that a genetic test identifying EIF2AK4 mutation would serve as a tool for the early diagnosis of PVOD, circumventing lung biopsy.

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Pulmonary Veno-Occlusive Disease: A Rare Cause of Pulmonary Hypertension

Cited by 6 publications

References 33 publications

Rare Case of Reversible Pulmonary Arterial Hypertension Secondary to Cyclophosphamide and Doxorubicin Chemotherapy

Rare Case of Reversible Pulmonary Arterial Hypertension Secondary to Cyclophosphamide and Doxorubicin Chemotherapy

An interesting case of progressive dyspnoea and diffuse mediastinal adenopathy in a 25-year-old man

Rapid disease progress in a PVOD patient carrying a novel EIF2AK4 mutation: a case report

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