Heredopathia atactica polyneuritiformis (Refsum's disease) treated by diet and plasma exchange—follow-up study of one case over eight years

Abstract

A 39-year-old patient with severe heredopathia atactica polyneuritiformis (Refsum's disease) has responded well to treatment with large-volume plasma exchange in combination with a low phytanic acid diet. The follow-up study over eight years shows that the dietary control of the disease depends not only on a diet low in phytanic acid, but also on one high in calories. This is to prevent weight loss, which was always accompanied by clinical deterioration.