Refsum's Disease is an inherited metabolic disorder in which a metabolite of branched chain
fatty acids accumulates due to lack of appropriate oxidative
enzymes. Patients have elevated plasma
phytanic acid levels and high concentrations of
phytanic acid in a variety of tissues leading to progressive tissue damage. Besides
retinal degeneration or
retinal dystrophy associated with adult onset
retinitis pigmentosa, additional symptoms include chronic
polyneuropathy,
cerebellar ataxia,
sensorineural hearing loss,
anosmia,
ichthyosis, as well as skeletal, cardiac, hepatic, and renal abnormalities. Current management includes avoidance of dietary sources of branched chain
fatty acids and regular
plasmapheresis to prevent accumulation of these compounds to ameliorate progressive neurological deficits. Two brothers with
Refsum's disease who experienced progressive symptoms despite optimal diet and
plasmapheresis were commenced on a novel
therapy. We report the effect of the intestinal
lipase inhibitor,
Orlistat, which led to significant reduction (P-value <0.001 on 2-sample unpaired t-test) of mean preplasmapheresis
phytanic acid levels with retardation of the progression of most of their dermatological and neurological symptoms.