Pulmonary veno-occlusive disease, antiphospholipid antibody and pulmonary hypertension in an adolescent

Pulmonary veno-occlusive disease (PVOD) is a rare cause of pulmonary hypert ension (PH); Antiphospholipid antibody (APL) is another known cause of pulm onary hypertension, due to recurrent pulmonary thromboembolism. The coincid ence of both causes, PVOD and APL, without thromboembolism, in PH has not b een reported previously in children. A 12.5-year-old boy presented with a one year history of fatigue. Pulmonary hypertension was diagnosed by echocardiography. Pulmonary function tests r evealed a moderate restrictive pattern and elevated granulocytes were detec ted in bronchoalveolar lavage. An isolated high-titer APL was detected. Ope n lung biopsy established the diagnosis of PVOD, with no evidence of pulmon ary thrombosis, but with accompanying interstitial and alveolar cellular in filtration. We speculate that APL may have played a role in the pathogenesi s of PVOD. Prednison improved the symptoms of the interstitial pneumonitis and was stopped, on follow up of 30 months, the patient ist in stable condi tion on therapy with nifedipin, phenprocoumon and digoxin. Conclusions PVOD and APL may be present simultaneously as a rare cause of P H. Interstitial pneumonitis map accompany PVOD and produce the leading symp toms. Open lung biopsy is essential for early establishment of the diagnosi s.