Refsum’s Disease: Management by Diet and Plasmapheresis

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.

Refsum disease: The presentation and ophthalmic aspects of Refsum disease in a series of 23 patients

“…4,12,15 Hansen reported that the progress of more chronic signs such as retinitis pigmentosa may also be halted. 17 Typically patients with Refsum disease first present before the age of 20 years with nyctalopia.…”

Phytanic acid storage disease (Refsum's disease): Clinical characteristics, pathophysiology and the role of therapeutic apheresis in its management

“…A major caveat of dietary management is to maintain good general nutrition. Rapid weight loss in patients maintained on rigorous low-phytanate diets has resulted in rapid mobilization of phytanic acid from hepatic lipid and body adipose stores with resulting severe clinical relapse [8,12,[25][26][27].…”

“…Plasma exchange can be used to rapidly lower plasma phytanic acid levels in acutely ill patients with phytanic acid storage disease [8,12,[24][25][26]. Lundberg et al [8] first reported slow improvement in two severely affected siblings treated with 17 plasmaphereses of 400 mL each over 26 weeks and 10 plasmaphereses over 16 weeks, respectively.…”

“…After 2 months he had almost normal muscle power. Hungerbühler et al [26] used both continuous and discontinuous equipment to exchange a mean of 2.98 L of plasma (approximately 1 plasma volume) in three series of therapeutic plasma exchange (TPE) performed over an 18 month period. The patient began to improve after the first TPE, with increasing muscle strength and stretch reflexes and some sensory recovery.…”

“…TPE has been used, in conjunction with diet, to manage adults and children with phytanic acid storage disease [26,29,34]. The normal plasma phytanic acid level in humans is <33 mol/L [15].…”