Fabry (-Anderson) disease

This code identifies Fabry disease, a rare X-linked lysosomal storage disorder resulting from a deficiency of the enzyme alpha-galactosidase A. This deficiency leads to the accumulation of globotriaosylceramide (Gb3) in various tissues, causing progressive organ damage. Manifestations can include neuropathic pain, angiokeratomas, renal failure, cardiomyopathy, and cerebrovascular events.

Use this code for patients diagnosed with Fabry disease, confirmed through enzyme assay or genetic testing. It is appropriate for initial diagnosis, ongoing management, and complications directly attributable to the disease. Documentation should clearly state the diagnosis of Fabry disease and any associated clinical findings.

• Do not confuse with other lysosomal storage disorders; ensure documentation specifically mentions Fabry disease.
• Code any associated manifestations (e.g., chronic kidney disease, cardiomyopathy) in addition to this primary diagnosis.
• Genetic testing results or enzyme assay reports are strong supporting documentation for this diagnosis.