E75.22

HCC Category Mapping

What This Code Means

Gaucher disease is a rare inherited disorder where the body cannot break down certain fatty substances, causing them to accumulate in organs like the spleen, liver, and bones, leading to enlargement and dysfunction of these organs.

Coding Tips

• •Specify the type of Gaucher disease if documented (Type 1, 2, or 3) as it affects severity and prognosis
• •Code any organ-specific complications separately, such as bone disease, hepatosplenomegaly, or hematologic abnormalities

Clinical Significance

Gaucher disease is the most common lysosomal storage disorder, caused by glucocerebrosidase (GBA1) deficiency leading to accumulation of glucocerebroside in macrophages. Type 1 (non-neuronopathic) is most common, causing hepatosplenomegaly, bone disease, anemia, and thrombocytopenia. Types 2 and 3 involve the central nervous system. Enzyme replacement therapy and substrate reduction therapy are available for Type 1.

Documentation Requirements

• ✓Confirmed diagnosis of Gaucher disease
• ✓Glucocerebrosidase enzyme assay showing deficiency
• ✓GBA1 gene mutation analysis
• ✓Type specification if known: Type 1, 2, or 3
• ✓Organ involvement documentation: spleen and liver size, bone assessment (avascular necrosis, fractures), complete blood count
• ✓Treatment status: enzyme replacement therapy (imiglucerase, velaglucerase, taliglucerase) or substrate reduction therapy (eliglustat, miglustat)

Commonly Confused Codes