Symptoms Of Gaucher Disease

Enlarged Liver And Spleen

Hepatosplenomegaly, or an enlarged liver and spleen, is a common symptom of Gaucher disease. This term means both the liver and the spleen are enlarged with the glucocerebroside not being eliminated by the GBA gene. This symptom can cause a swollen, hard, and painful belly in patients. If the spleen alone is enlarged, it is sometimes painless.

Involvement of the liver and spleen is sometimes the only and initial presenting symptom in adults who were unaware of their genetic condition. Specialists have recommended patients with unexplained enlargement of the two organs be screened for Gaucher disease. There is enzyme replacement therapy available that can help the enlargement.