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Pulmonary Veno-Occlusive Disease (PVOD)
Pulmonary Veno-Occlusive Disease (PVOD) is a rare and progressive form of pulmonary hypertension characterized by the obstruction of small pulmonary veins, leading to increased pulmonary vascular resistance and right heart failure
Prevalence
0.01–0.05/100,000
33–298
US Estimated
75–672
Europe Estimated
Age of Onset
All ages
ICD-10
I28.8
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
PVOD is a rare subtype of pulmonary arterial hypertension (PAH, Group 1'), characterized by widespread occlusion of small pulmonary veins and venules, often leading to rapidly progressive right heart failure
FACT
Clinical presentation mimics idiopathic PAH, with exertional dyspnea, fatigue, and signs of right ventricular dysfunction, but PVOD carries a worse prognosis and distinct management considerations
FACT
HRCT findings are suggestive and include centrilobular ground-glass opacities, septal line thickening, and mediastinal lymphadenopathy—indicative of pulmonary edema due to postcapillary obstruction
FACT
Use of standard PAH therapies (e.g., prostacyclins, endothelin receptor antagonists) can be harmful, potentially triggering life-threatening pulmonary edema; diagnosis must be carefully differentiated
FACT
Definitive diagnosis is often made post-mortem or via lung biopsy, though genetic testing (e.g., EIF2AK4 mutations) and radiologic-clinical correlation can support a non-invasive diagnosis; lung transplantation is the only curative option
Interest over time
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Common signs and symptoms
Shortness of breath (dyspnea)
Fatigue
Dizziness or fainting spells
Cyanosis
Swelling in the lower extremities
Current treatments
Management of PVOD is challenging due to its rarity and severity: