Gaucher disease

Gaucher disease is a rare, inherited metabolic disorder characterized by the accumulation of fatty substances (lipids) in cells and certain organs, particularly the spleen, liver, and bone marrow. This lysosomal storage disorder results from a deficiency of the enzyme glucocerebrosidase, leading to a variety of clinical manifestations.

This code is used when documentation confirms a diagnosis of Gaucher disease, regardless of the specific type (e.g., Type 1, Type 2, Type 3). It applies to patients undergoing diagnostic workups, enzyme replacement therapy, or managing associated complications like hepatosplenomegaly, bone pain, or cytopenias.

• Ensure the medical record clearly states a confirmed diagnosis of Gaucher disease.
• Do not confuse with other lysosomal storage disorders; verify the specific enzyme deficiency.
• Code any associated manifestations or complications (e.g., splenomegaly, anemia, bone crisis) separately as secondary diagnoses.