E75.21

HCC Category Mapping

What This Code Means

Fabry disease is a rare inherited metabolic disorder where the body cannot properly break down certain fatty substances, leading to their buildup in cells and tissues throughout the body, causing pain, kidney problems, and heart issues.

Coding Tips

• •This is a lysosomal storage disorder; ensure documentation specifies Fabry or Fabry-Anderson disease
• •Consider coding associated complications such as kidney disease, cardiac manifestations, or neuropathic pain separately if documented

Clinical Significance

Fabry disease (Fabry-Anderson disease) is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, leading to progressive accumulation of globotriaosylceramide (Gb3) in blood vessel walls and organs. It causes severe neuropathic pain, progressive kidney disease, cardiac hypertrophy, stroke, and premature death. Enzyme replacement therapy and oral chaperone therapy can slow disease progression.

Documentation Requirements

• ✓Confirmed diagnosis of Fabry disease or alpha-galactosidase A deficiency
• ✓Alpha-galactosidase A enzyme assay results (low in affected males; may be normal in carrier females)
• ✓GLA gene mutation analysis
• ✓Organ involvement assessment: renal function (GFR, proteinuria), cardiac evaluation (echocardiogram, MRI), cerebrovascular screening
• ✓Current treatment status: enzyme replacement therapy (agalsidase alfa or beta) or chaperone therapy (migalastat)
• ✓Pain assessment and neuropathy evaluation

Commonly Confused Codes