Interstitial pulmonary involvement in patients with Gaucher disease

Francesca Santamaria, G. Parenti, G. Grillo, G. Guidi, A. Rotondo, M. G. Rizzolo, E. Silvestro, P. Sarnelli, M. Filocamo, P. Strisciuglio, G. Andria

Research output: Contribution to journalArticlepeer-review


Purpose: Gaucher disease (GD) is the most prevalent sphingolipid storage disorder due to accumulation of glucocerebroside in the reticuloendothelium and is classified into three clinical forms. Lung disease has been reported in all clinical forms; nevertheless, it is quite rare in Type 1 (adult, chronic, non-neuronopathic, which is characterized by hepatosplenomegaly, hematologic signs and bone disease), but is not unusual in Type 2 and 3 (infantile and juvenile forms, respectively, both characterized by central nervous system involvement in addition to visceral disease). Aim of our study was the evaluation of lung involvement in twelve Italian GD patients, 6 with the Type 3 disease, homozygous for the L444P mutation (mean age: 9,6 yr), 6 with the Type 1 disease, genotypically heterogeneous (mean age: 27,2 yr). Methods: Patients were investigated through pulmonary function tests (PFTs) and lung imaging studies consisting of conventional chest radiography (CXR) and High Resolution Computed Tomography (HRCT) of the lung. Results: Within the group with Type 3 GD, 4 patients (67%) experienced frequent respiratory symptoms and showed interstitial lung involvement defined either by diffuse reticulonodular opacities at CXR or diffuse intralobular thickening and small interstitial nodules at HRCT; one of them (a 1,6 yr old patient) died of severe respiratory insufficiency, results of PFTs in two cooperative patients did not show any functional impairment. In contrast, patients with Type 1 GD showed neither respiratory symptoms nor evidence of pulmonary involvement at imaging studies and at PFTs. Conclusions: We speculate that lung involvement might represent a peculiar feature of GD patients homoallelic for the neuronopathic L444P mutation. Clinical implications: Genotyping GD patients might allow early identification of patients at risk for pulmonary complications. We suggest that lung involvement may have implications for the dosage of enzyme replacement therapy.

Original languageEnglish
Issue number4 SUPPL.
Publication statusPublished - Oct 1996

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine


Dive into the research topics of 'Interstitial pulmonary involvement in patients with Gaucher disease'. Together they form a unique fingerprint.

Cite this