PLASMA-EXCHANGE IN THE TREATMENT OF REFSUMS DISEASE (HEREDOPATHIA ATACTICA POLYNEURITIFORMIS)

Five cases of heredopathia atactica polyneuritiformis (HAP-Refsum's disease) were treated by serial plasma exchanges. In all patients a reduction in calorie intake and body weight had been associated with a rise in plasma phytanic acid, followed by an exacerbation of the ataxia and neuropathy. Lowering the plasma phytanic acid by plasma exchange produced a rapid clinical improvement. The main indication for plasma exchange in HAP is a severe or rapidly worsening clinical condition. A lesser indication is failure of dietary management to reduce a high plasma phytanic acid level.