The challenges of diagnosing Gaucher disease

Gaucher disease can pose a challenge to diagnose, despite the availability today of accurate, non-invasive diagnostic tests (enzyme assays and DNA analysis). Misdiagnosis is not unusual and it can delay treatment and thus compromise successful treatment outcomes.

The difficulty arises in part because of the relative rarity of the disease--some practitioners may not even consider testing specifically for it, especially since clinical signs and symptoms may suggest other diseases.^[1,2] Moreover, the disease’s clinical course can be unpredictable; signs and symptoms may take years to emerge and may progress at varying rates,^[1,2] further complicating the question of which tests to order.

Common misdiagnoses

Many of Gaucher disease’s presenting symptoms--from distended abdomen to bone pain to hematological complications--are found with other more common diseases. Thus it’s not unusual for physicians to suspect other disorders and initially misdiagnose Gaucher patients. Some of the most common misdiagnoses include: ^[4]

Leukemia

Lymphoma

Bleeding disorders

Osteomyelitis

Legg-Calvé-Perthes

In addition, other diseases sometimes present with engorged cells that resemble Gaucher cells, which can be easily misdiagnosed.^[3] Conditions for which these “pseudo-Gaucher cells” have been detected include:

Chronic granulocytic leukemia

Multiple myeloma

Hodgkin’s disease

Thalassemia

1. Beutler E, Grabowski G. Gaucher disease. In:Scriber CR, Beaudet AL, Sly WS, et al, eds. The Metabolic and Molecular Bases of Inherited Disease. 7^th ed. New York, NY: McGraw-Hill; 1995;2:2641-2661.

2. Cox TM, Schofield JP. Gaucher's disease: clinical features and natural history. Bailliere's Clinical Haematology. 1997;10(4):657-689.

3. Pastores GM. Pathological features of Gaucher’s Disease. Bailliere’s Clinical Hematology. 1977; 10(4): 739-749.

4. Grabowski GA. Lysosomal storage diseases. In: Braunwald E, Fauci AS, eds. Harrison's Principles of Internal Medicine. 15th ed. New York, NY: McGraw-Hill; 2001:2276-2281.