Gaucher's Disease Diagnosis

By Dr. Ananya Mandal, MDReviewed by Sally Robertson, B.Sc.

Gaucher’s disease is a genetically inherited disorder that causes a deficiency in the enzyme glucocerebrosidase. This enzyme is required to break down the fatty substance glucocerebroside.

When this enzyme is deficient, glucocerebroside accumulates in certain cells, particularly macrophages. The macrophages become swollen and dysfunctional and form deposits in various important organs and tissues. Gaucher's disease is one of the most common forms of lysosomal storage disease.

Diagnosis is usually made based on a combination of physical assessment and laboratory testing. The blood is tested to check the level of glucocerebrosidase and genetic testing can be used to confirm the diagnosis. Individuals planning a family may want to undergo genetic screening if there is a genetic risk factor such as Ashkenazi Jewish heritage or a family history of the condition.

Other clinical features that are suggestive of Gaucher’s disease include the following:

• Raised alkaline phosphatase
• Raised angiotensin-converting enzyme (ACE)
• Raised immunoglobulin levels
• Other lysosomal enzymes may also be elevated including tartrate-resistant acid phosphatase, human chitinase, hexosaminidase and chitotriosidase. Chitotriosidase is also useful for monitoring a patient’s response to enzyme replacement therapy in Gaucher’s disease.
• Gaucher’s disease may also be suspected if cytology studies show the cytoplasm resembles the appearance of crinkled paper and has macrophages laden with glycolipid.

Symptoms

Some of the symptoms that may feature in Gaucher’s disease include:

• Enlarged liver and spleen
• Cirrhosis or scarred liver
• Jaundice and other evidence of liver disease
• Gallstones
• Abdominal pain
• Anemia leading to lack of energy and fatigue
• Low platelet count and increased bleeding tendency
• Low neutrophil count and increased susceptibility to infection
• Acute or chronic bone pain
• Weak bones that are prone to fracture
• Delayed growth in children
• Neurological symptoms include impaired hearing, seizures and poor mobility and coordination

Further Reading

• All Gaucher's Disease Content
• What is Gaucher's Disease?
• Gaucher's Disease Genetics
• Gaucher's Disease Treatment