Refsum’s Disease: Management by Diet and Plasmapheresis

TLDR

The treatment combined serial plasma exchanges with a low‑phytanate diet, later reduced to 10 mg phytanic acid per day, which was well tolerated and required no liquid formula. Serial plasma exchanges rapidly improved neuropathy and cerebellar ataxia, enabling full‑time employment, and the benefit correlated with a drop in serum phytanic acid from 45.3 to 16.2 mg/100 ml, with intermittent treatment sustaining improvement despite partial diet failure.

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.