Lung involvement and enzyme replacement therapy in Gaucher's disease

Symptomatic lung involvement in Gaucher's disease is relatively rare, being restricted to patients with other severe manifestations. We describe our e xperience in eight of 411 patients in our referral clinic, who presented wi th prominent pulmonary signs or symptoms. There were four adults and four c hildren; all have been successfully treated with enzyme replacement therapy . Routine means of monitoring pulmonary status including clinical assessmen t, chest X-ray, pulmonary function tests, and high-resolution CT (HRCT) wer e used. Enzyme treatment resulted in decreased hepatosplenomegaly, improved haematological parameters, and increased well-being; There was decreased c lubbing and decreased dyspnoea in some of the patients, although on radiolo gy, lung pathology had not normalized. All four children showed improved re spiratory compliance, with significant improvement of the radiological find ings in one and unchanged disease in the others. Two adults showed improvem ent in oxygen saturation but worsening of pulmonary hypertension. On chest X-ray, both had increased interstitial markings; one had gradual progressio n of pulmonary artery accentuation and fine interstitial stable pattern on HRCT. The other two adults had no change in lung function or on chest X-ray , but on HRCT there was apparent improvement in one patient. There is great heterogeneity in presentation and response to enzyme therapy in patients w ith Gaucher's disease and symptomatic lung involvement. Clinically, some be nefited significantly from enzyme therapy, but in contrast to the dramatic reduction in organomegaly, there was no normalization in pulmonary function or lung architecture.