Pseudo-Gaucher disease

Pseudo-Gaucher Disease

Pseudo-Gaucher disease is a rare condition characterized by the presence of Gaucher cells in the bone marrow, similar to those found in Gaucher disease, but without the associated genetic mutations in the GBA gene that cause Gaucher disease. This condition is often observed in association with other hematological disorders, particularly chronic myeloid leukemia (CML) and other myeloproliferative disorders.

Pathophysiology

Pseudo-Gaucher disease is not caused by a deficiency of the enzyme glucocerebrosidase, as is the case in true Gaucher disease. Instead, the accumulation of Gaucher-like cells is secondary to increased cellular turnover and macrophage activity in the bone marrow. This is often due to the presence of underlying hematological malignancies or disorders that lead to increased production and destruction of blood cells.

Clinical Presentation

Patients with pseudo-Gaucher disease may present with symptoms related to their underlying condition, such as fatigue, anemia, or splenomegaly. The presence of Gaucher-like cells is typically an incidental finding during the evaluation of bone marrow samples for other conditions.

Diagnosis

The diagnosis of pseudo-Gaucher disease is made through bone marrow examination, where Gaucher-like cells are identified. Unlike true Gaucher disease, genetic testing for mutations in the GBA gene will be negative. It is important to differentiate between pseudo-Gaucher disease and true Gaucher disease, as the management and implications differ significantly.

Management

Management of pseudo-Gaucher disease focuses on treating the underlying hematological disorder. There is no specific treatment for the Gaucher-like cells themselves, as they are a secondary phenomenon. Monitoring and supportive care may be necessary depending on the patient's symptoms and the nature of the primary condition.

Prognosis

The prognosis of pseudo-Gaucher disease depends largely on the underlying condition. In cases associated with chronic myeloid leukemia or other malignancies, the prognosis is determined by the course of the primary disease.

Also see

• Gaucher disease
• Chronic myeloid leukemia
• Myeloproliferative disorders
• Bone marrow biopsy

NIH genetic and rare disease info

• NIH info on Pseudo-Gaucher disease

Pseudo-Gaucher disease is a rare disease.