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Refsum's disease: management by diet and plasmapheresis
European Neurology
|January 1, 1985
Summary
Serial plasma exchanges rapidly improved Refsum's disease symptoms, including neuropathy and ataxia. This treatment, combined with a low phytanic acid diet, significantly lowered serum phytanic acid levels, enabling a return to full-time employment.
Area of Science:
- Neurology
- Metabolic Disorders
- Therapeutic Apheresis
Background:
- Refsum's disease is a rare, inherited metabolic disorder.
- Phytanic acid accumulation in tissues causes progressive neurological damage.
- Current management often involves strict dietary restrictions.
Observation:
- A patient with Refsum's disease underwent serial plasma exchanges.
- A moderate low phytanic acid diet was implemented concurrently.
- Dietary adherence was initially challenging, with 20 mg phytanic acid daily intake.
Findings:
- Serial plasma exchanges led to rapid and significant clinical improvement in neuropathy and cerebellar ataxia.
- Intermittent plasmapheresis maintained improvement despite partial dietary non-compliance.
- A revised diet of 10 mg phytanic acid daily was well-tolerated.
- Clinical improvement correlated with a decrease in serum phytanic acid from 45.3 to 16.2 mg/100 ml.
Implications:
- Plasma exchange is a viable and effective treatment for Refsum's disease.
- This approach offers rapid symptom relief and functional recovery.
- Therapeutic apheresis can complement dietary management in Refsum's disease.
- Successful management can facilitate a return to normal activities and employment.