Elsevier

Human Pathology

Volume 30, Issue 6, June 1999, Pages 666-670
Human Pathology

Original contribution
Pulmonary pathology in Gaucher's disease

https://doi.org/10.1016/S0046-8177(99)90092-8Get rights and content

Abstract

Gaucher's disease is a familial storage disease caused by a deficiency of the enzyme glucocerebrosidase. Pulmonary involvement is considered rare in Gaucher's disease, especially type I. Sporadic case reports have shown various types of lung involvement, but the spectrum of pulmonary pathology in Gaucher's disease has not been described. Nine cases of Gaucher's disease were retrieved from the autopsy file of Hadassah Medical Center, Jerusalem, Israel. There were six cases with type I Gaucher's disease and three cases with type II. Lung sections were evaluated, and special stains were employed, including immunohistochemical stains for CD68, cytokeratin, and CD34. Gaucher cells were found in the lungs in all nine cases. The involvement was considered pathologically significant in five of nine cases and clinically significant in three of nine cases. Four distinct patterns of pulmonary involvement by Gaucher cells emerged: intracapillary (9 of 9), patchy interstitial infiltrates in a lymphatic distribution (2 of 9), massive interstitial thickening of alveolar septa (1 of 9), and intra-alveolar infiltrates (2 of 9). The universal involvement of pulmonary capillaries indicates that this is probably systemic in nature and not intrinsic to the lungs. Pulmonary involvement in Gaucher's disease is commoner than previously recognized. Immunocytochemical stains help to identify isolated Gaucher cells and distinguish them from native alveolar macrophages.

References (12)

There are more references available in the full text version of this article.

Cited by (74)

  • Allogeneic hematopoietic stem cell transplantation for treating severe lung involvement in Gaucher disease

    2020, Molecular Genetics and Metabolism Reports
    Citation Excerpt :

    Results of a 10-year follow-up in non-splenectomized patients were also significant: increase in hemoglobin levels and platelet count, decrease in liver and spleen volumes, improvement in DXA Z-scores, and reduction in bone crises [3]. Pulmonary involvement in Gaucher disease (GD) includes interstitial lung disease, alveolar/lobar consolidation, pulmonary hypertension, and hepatopulmonary syndrome [4]. It is less common than visceral, hematologic, and bone manifestations.

  • Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease

    2019, Respiratory Medicine Case Reports
    Citation Excerpt :

    The impact of long-term ERT on the presence of Gaucher cells in the lungs is unclear, although this treatment may explain the absence of these cells in the explants from our patient. Other proposed mechanisms of PH include plugging of pulmonary capillaries with bone marrow emboli [7,8], post-splenectomy PH [5], and PH via the hepatopulmonary syndrome in patients with GD1-associated liver disease [6]. Analysis of BMPR2 and ALK1 coding regions did not disclose a role for these modifier genes in GD1 [6].

  • Histological characterisation of visceral changes in a patient with type 2 Gaucher disease treated with enzyme replacement therapy

    2018, Blood Cells, Molecules, and Diseases
    Citation Excerpt :

    Furthermore, a significant fibrous thickening of the visceral pleura, interstitial inflammatory cell infiltration, and fibrosis were seen. Previous reports of pathological findings in the lungs of neuronopathic Gaucher disease [13–15] and the present case are shown in Table 3. The accumulation of GC in capillary was less with ERT than without ERT, but Gaucher cells were present in the alveolar space even with ERT.

  • Gaucher disease: A diagnostic challenge for internists

    2014, European Journal of Internal Medicine
View all citing articles on Scopus
View full text