Pulmonary venoocclusive disease in childhood.

BACKGROUND: Pulmonary venoocclusive disease (PVOD) is a rare lung disease, diagnosed in 5% to 10% of patients with pulmonary hypertension (PH). The incidence, prevalence, and etiology of PVOD in children are not well defined. The mortality remains high, related, at least partly, to the limited treatment options.

METHODS: This retrospective analysis (1985-2011) summarizes symptoms, associated factors, treatment, and outcomes of nine pediatric patients (five girls, four boys) with histologic confirmation of PVOD.

RESULTS: PH was diagnosed at a mean age of 13.5 years (range, 8-16 years), followed by the definitive diagnosis of PVOD at a mean age of 14.3 years (range, 10-16 years). Symptoms such as decreased exercise tolerance (n = 6) and/or shortness of breath (n = 9) preceded the diagnosis by 21 months on average; the mean survival time after diagnosis was 14 months (range, 0-47 months). CT scans of the lungs showed typical radiologic features. Treatment included supplemental home oxygen (n = 5), diuretics (n = 9), warfarin (n = 4), and pulmonary vasodilators (n = 4). Four children were listed for lung transplantation, and three have undergone transplantation. Eight patients died, including two after lung transplantation. One patient with lung transplant survived with good quality of life.

CONCLUSIONS: PVOD is an important differential diagnosis for pediatric patients with PH. CT scanning is a valuable tool to image lung abnormalities; the definitive diagnosis can only be made by examination of lung biopsy specimens, which subjects the patient to additional risk. Early listing for lung transplantation is essential, as the mean survival time is only 14 months.