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Ryan O’Keefe: Exploring Gaucher’s Disease
Ryan O'Keefe/pennmedicine.org
Jun 25, 2026, 14:05

Ryan O’Keefe: Exploring Gaucher’s Disease

Ryan O’Keefe, Internal Medicine Resident at the Hospital of The University of Pennsylvania, Creator of Point of Care Medicine, shared a post on X:

“Gaucher’s Disease

Gaucher’s disease is the most common lysosomal storage disorder, caused by a deficiency of the enzyme glucocerebrosidase (GBA).

This leads to the accumulation of its substrate, glucocerebroside, within the lysosomes of macrophages, forming ‘Gaucher cells.’

These lipid-laden cells infiltrate various organs, leading to a variable clinical picture that often mimics rheum, heme, and infectious diseases.

Hepatosplenomegaly is a classic finding due to the infiltration of Gaucher cells in the reticuloendothelial system.

Bone pain, lytic lesions, pathologic fractures, and avascular necrosis are common.

Anemia and thrombocytopenia are frequent due to bone marrow infiltration and hypersplenism.

Gaucher’s disease confers a significantly increased lifetime risk of hematologic malignancies, particularly multiple myeloma and other gammopathies.

Patients require lifelong screening with SPEP, UPEP, and serum free light chains.

The chronic inflammation can manifest as fever, arthritis, and marked hyperferritinemia, mimicking adult-onset Still’s disease.

Source: CPS – April 25, 2026 Simplicity in Complexity – rheumatoid arthritis in the setting of a febrile illness”

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