Refsum’s Disease: Management by Diet and Plasmapheresis

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Abstract
A case of Refsum’s disease treated by serial plasma exchanges together with a moderate low phytanate diet is reported. Serial plasma exchanges determined a rapid significant clinical improvement (neuropathy and cerebellar ataxia) that allowed immediate return to full-time employment. The initial improvement could be maintained by intermittent serial plasmapheresis despite partial failure of the initially introduced low phytanate diet bringing 20 mg phytanic acid daily. A new dietary regimen bringing 10 mg phytanic acid was later introduced that was well tolerated. No liquid formula was used. The clinical improvement was clearly correlated to a fall in serum phytanic acid from 45.3 to 16.2 mg/100 ml.