Pulmonary Involvement Responsive to Enzyme Replacement Therapy in an Elderly Patient with Gaucher Disease

  • Dylan Vellas Department of Internal Medicine, University Hospital, Saint-Etienne, France
  • Baptiste Gramont Department of Internal Medicine, University Hospital, Saint-Etienne, France https://orcid.org/0000-0003-2678-0028
  • Rémi Grange Department of Radiology, University Hospital, Saint-Etienne, France
  • Pascal Cathébras Department of Internal Medicine, University Hospital, Saint-Etienne, France https://orcid.org/0000-0001-7570-3366
DOI: https://doi.org/10.12890/2021_002802

Keywords

Gaucher disease, infiltrative lung disease, enzyme replacement therapy

Abstract

Type 1 Gaucher disease (GD) is a rare autosomal recessive lysosomal storage disorder caused by deficient activity of beta-glucocerebrosidase, leading to accumulation of its substrate (glucosylceramide) in macrophages of the reticuloendothelial system, which are then referred to as Gaucher cells. The most frequent symptoms are asthenia, spleen and liver enlargement, bone abnormalities and cytopenia due to bone marrow infiltration. Lung involvement in GD is a rare finding, and it is unclear whether it may regress under enzyme replacement therapy (ERT) or substrate reduction therapy (SRT). Here we report a case of type 1 GD recently diagnosed in an elderly patient complicated by infiltrative lung disease, which responded to ERT.

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    • Published: 2021-10-08

    Issue: 2021: Vol 8 No 9 (view)

    Section: Articles

    How to cite:
    1.
    Vellas D, Gramont B, Grange R, Cathébras P. Pulmonary Involvement Responsive to Enzyme Replacement Therapy in an Elderly Patient with Gaucher Disease. EJCRIM 2021;8 doi:10.12890/2021_002802.