Similarity of signs or symptoms

Because some of the signs and symptoms associated with Gaucher disease are similar to those of other, more common diseases, people with Gaucher disease may be misdiagnosed. For example, joint pain may be attributed to arthritis or growing pains. Low levels of red blood cells or platelets may at first be diagnosed as a blood disorder. Other misdiagnoses may include:

Osteochondritis (a swelling of bone and cartilage)

Perthes disease (death of bone tissue in the upper thigh)

Chronic granulocytic leukemia (an abnormal increase in white blood cells – also known as “blood cancer”)

To learn more about the key signs and symptoms of Gaucher disease, visit the Signs and Symptoms section.

Diagnostic testing

A definitive diagnosis of Gaucher disease can be made using a blood test (also called an assay) that measures the activity level of the enzyme glucocerebrosidase. In healthy individuals, the test shows normal enzyme activity in white blood cells. In individuals with Gaucher disease, the enzyme activity is much lower.

To learn about the enzyme assay and other tests used to gauge a patient’s condition, see the Testing for Gaucher page.

Family history is significant

Gaucher disease is inherited. It is caused when someone inherits a mutated, or abnormal, gene from both parents. When a doctor is informed of any family history of Gaucher disease, he or she can examine the patient for signs and symptoms, order the appropriate tests, or make a referral to appropriate specialists.

To learn more about how Gaucher disease may be passed down in families and about genetic testing, see Genetics & Gaucher Disease

Gaucher disease specialists and centers

Physicians who specialize in the treatment of Gaucher disease (usually geneticists or hematologists) have experience in knowing what to analyze, asking pertinent questions, and ordering appropriate tests, and determining how often an individual with Gaucher disease should be evaluated.

There are Gaucher disease treatment centers in various locations in the U.S. These centers are staffed by physicians and other medical professionals from various specialties who work together to provide specialized diagnostic and treatment services.

To find a center nearest to you, go to Locate a Treatment Center.