Gaucher Disease and the Potential for Misdiagnosis

Guest post by Staci Kallish, DO

Gaucher disease is a genetic condition caused by the inability to make an enzyme, glucocerebrosidase, which breaks down fatty substances in the body. This leads to build up of these substances in many tissues of the body, including the bones, organs, and bone marrow. Symptoms of Gaucher disease include anemia and low platelet counts, which can lead to fatigue, easy bruising, and bleeding. The spleen and liver can become enlarged, and the bones can be affected, with bone pain and low bone density. The most common form of Gaucher disease is type 1 Gaucher disease, which affects 1 in 45,000-60,000 people in the United States. Gaucher disease is much more common in the Ashkenazi Jewish population, where it affects approximately 1 in 850 people.

Delayed Diagnosis Common

Gaucher disease can present in childhood with the above features and with poor growth. However, some people with Gaucher disease do not show symptoms until adulthood. This variability and the rare nature of the disease can make the diagnosis difficult. Many people with Gaucher disease experience a delay between symptom onset and eventual diagnosis. This delay may be months or even years long.

Early Symptoms Mimic More Common Conditions

The features of Gaucher disease show overlap with some more common diseases, leading to further difficulty in making this diagnosis. People with Gaucher disease may initially be suspected to have leukemia, non-Hodgkin’s lymphoma, viral infections, or other conditions. While these conditions may be more common than Gaucher disease overall, Gaucher disease is actually more common in the Ashkenazi Jewish population than blood cancers, indicating Ashkenazi Jews with these symptoms should be evaluated for Gaucher disease early in their diagnostic work up. A delay in diagnosis of Gaucher disease can lead to complications, including irreversible bone damage, bleeding complications, and worsening of low bone density. Unnecessary procedures may also be performed, including treatment with steroid medications, biopsy of the liver, or removal of the spleen.

 A Simple Blood Test Can Diagnose Gaucher Disease

The diagnosis of Gaucher disease can be made with a blood test measuring the deficient enzyme, glucocerebrosidase.  Genetic testing (also a blood test) may be useful for confirmation of the diagnosis or in high-risk populations, such as Ashkenazi Jews, as they are likely to have mutations common in their population. The diagnosis may be made by biopsy of the bone marrow, but this is an invasive procedure and may not be necessary if Gaucher disease is diagnosed in another manner. Bone marrow biopsy may also provide false negative results and miss a diagnosis of Gaucher disease.
It is particularly important to consider Gaucher disease in people with symptoms suspicious for the disorder and to make the diagnosis in a timely manner as specific treatment is available for the condition. Gaucher disease may be treated with enzyme replacement therapy, which is an IV therapy that replaces the deficient enzyme, or with an oral therapy that reduces storage of the accumulating fatty substances. Treatment for Gaucher disease can normalize blood counts (hemoglobin and platelet counts), normalize spleen and liver size, and prevent the bony complications of the disease.

Increased Awareness = Earlier Proper Diagnosis

To reduce the likelihood of misdiagnosis of Gaucher disease, people should be aware of the symptoms. People who suspect they may have Gaucher disease or who have symptoms of Gaucher disease should be evaluated by a clinical geneticist or other specialist with experience in diagnosing and treating the condition. Family members of those with Gaucher disease should discuss this family history with their physicians. An evaluation for Gaucher disease may be recommended for them as they may be at risk for being affected and may have only mild features of the condition.
Increased awareness about Gaucher disease can help some people avoid a delay in diagnosis and treatment.  For more information about Gaucher disease, visit the National Gaucher Foundation at

About the author

Staci Kallish, DO is a clinical and biochemical geneticist, Dr. Kallish is an assistant professor of clinical medicine in the division of Translational Medicine and Human Genetics at the Perelman School of Medicine at the University of Pennsylvania who sees patients with Gaucher disease and other rare diseases. Dr. Kallish participates in the International Gaucher Disease Registry, which is funded by Genzyme.
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