Barry Rosenbloom, MD, director of the Comprehensive Gaucher Treatment Center at Tower Hematology Oncology in Beverly Hills, California, discusses the challenges of diagnosing Gaucher disease.

The diagnosis of Gaucher disease can be difficult because the disease can mimic many other illnesses. Patients can present with fatigue, abdominal discomfort, and an enlargement of the liver and spleen. Blood studies show that these patients are anemic and have low platelets, which tends to confuse it with dire hematologic diseases such as lymphoma, leukemia, or other malignancies with enlargement of the liver and spleen. Diagnostic studies will often go in those directions, looking for diseases other than Gaucher disease.

Because Gaucher disease is rare, physicians don’t often think of it first, which is a common occurrence for rare diseases. Once the proper tests are done and nothing is found, physicians should look into rare diseases as a possible explanation.