Refsum's disease

This code represents Refsum's disease, also known as adult Refsum disease or phytanic acid storage disease. It is a rare, inherited peroxisomal disorder characterized by the accumulation of phytanic acid in tissues and plasma, leading to progressive neurological impairment, retinitis pigmentosa, anosmia, and skeletal abnormalities. The condition results from a deficiency in the enzyme phytanoyl-CoA hydroxylase.

Assign this code for patients diagnosed with Refsum's disease, confirmed by elevated phytanic acid levels and/or genetic testing. This code is appropriate when documenting the primary diagnosis for ongoing management, symptom treatment, or monitoring of disease progression. Documentation should clearly state the diagnosis of Refsum's disease.

• Differentiate from infantile Refsum disease (a peroxisome biogenesis disorder), which has different genetic and clinical presentations.
• Ensure documentation specifies "Refsum's disease" to avoid confusion with other metabolic or neurological disorders.
• Consider co-reporting codes for associated manifestations such as retinitis pigmentosa (H35.52), peripheral neuropathy (G60.0), or hearing loss (H90.-).