Symptoms Of Gaucher Disease

Gaucher disease is a lysosomal storage deficiency, a rare inherited condition resulting from a mutation of the GBA gene. One in every fifty-seven thousand children born in the United States each year has Gaucher disease. Each parent carries one copy of the damaged gene but shows no signs of the illness. GBA is responsible for converting glucocerebroside, a fatty substance, into a sugar called glucose.

This gene carries the biological instructions to make beta-glucocerebrosidase, the responsible enzyme for the conversion process. In Gaucher’s disease, without that enzyme, glucocerebroside remains in tissues, eventually building to toxic levels. Three types of the disease express differently in patients and are of varying severity and appear at differing ages.

Fatigue

A patient with Gaucher disease often feels debilitating fatigue. This tiredness may be associated with anemia, a common feature of Gaucher disease. However, chronic exhaustion is a prominent feature in itself. This symptom is more than the usual tiredness at the end of a busy day. It is chronic, meaning it occurs nearly every day and never goes completely away. The patient's quality of life is affected by being chronically tired. Although there are supportive therapies for Gaucher disease patients, fatigue is not currently measured nor are their therapeutic goals for the symptom.

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.