Diet

Gaucher patients have increased caloric requirements because they have higher-than-normal metabolism. Despite the need for more food, patients with pronounced liver and/or spleen enlargement can frequently have a suppressed appetite. The enlarged organs leave little room in the body cavity for a full stomach, so patients often report a sensation of feeling full, even after having only a few bites of food.

Mineral or vitamin supplements may be recommended for nutritional deficiencies that affect Gaucher patients, such as anemia or vitamin B12 deficiency.

Your physician may recommend consulting with a dietician.

Diagnosis and Testing

Doctors diagnose Gaucher disease by using a simple blood test called an enzyme assay. The assay for Gaucher disease measures activity levels of the enzyme glucocerebrosidase in white blood cells or skin cells. Individuals who are affected with Gaucher disease will have very low levels of enzyme activity. However, the assay cannot determine disease severity. Learn more in Diagnosing and Testing »

Gaucher Registry

For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry »