Non-immune Hemolysis in Gaucher Disease and Review of the Literature

Gaucher disease (GD) is an autosomal recessive disease characterized by the buildup of glucocerebrosides in macrophages, resulting in the formation of Gaucher cells. These cells predominantly infiltrate the liver, spleen, and bone marrow leading to hepatosplenomegaly, cytopenia, and bone pain. Anemia in GD is typically considered to result from non-hemolytic processes. Although rare, a higher rate of hemolytic anemia of the autoimmune type has been reported in GD than in the general population. The literature on non-immune hemolytic anemia in GD is scarce. We review the literature on hemolytic anemia in GD and report on a case of non-immune hemolytic anemia secondary to GD. We believe this is the first description of a patient with confirmed GD and symptomatic non-immune hemolytic anemia that responded to GD-specific treatment.

Automated summary

Gaucher disease is a rare autosomal recessive genetic disorder characterized by the accumulation of glucocerebrosides in macrophages, leading to the formation of Gaucher cells. Patients with GD often present with hepatosplenomegaly, cytopenia, and bone pain, with anemia usually attributed to non-hemolytic processes. While hemolytic anemia of the autoimmune type is more common in GD patients than in the general population, there is limited literature on non-immune hemolytic anemia in GD.