Clinical lymphadenopathy is a less common manifestation of Gaucher's disease.

Risk factors for lymphadenopathy:

(1) severe GD1 phenotype, or GD3

(2) early onset Gaucher's disease (manifestation of more severe disease)

(3) status post splenectomy (usually associated with hepatosplenomegaly)


Clinical features:

(1) commonly affects mediastinal and mesenteric lymph nodes, but may affect any region

(2) may be initially diagnosed as malignant lymphoma or metastatic cancer



(1) protein losing enteropathy (associated with weight loss, failure to thrive, diarrhea, other gastrointestinal symptoms, hypoproteinemia and peripheral edema)

(2) severe systemic involvement

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