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Journal of Obesity
Volume 2011 (2011), Article ID 482021, 5 pages
Case Report

Refsum's Disease—Use of the Intestinal Lipase Inhibitor, Orlistat, as a Novel Therapeutic Approach to a Complex Disorder

1Department of Clinical Biochemistry, Royal Prince Alfred Hospital, Sydney, Camperdown, NSW 2050, Australia
2Department of Medicine, University of Sydney, NSW 2006, Australia
3Department of Biochemistry, John Hunter Hospital, Newcastle, NSW 2305, Australia
4National Referral Laboratory for Lysosomal, Peroxisomal and Related Genetic Disorders, SA Pathology at The Women's and Children's Hospital, North Adelaide, SA 5006, Australia
5School of Molecular and Biomedical Science, University of Adelaide, Adelaide, SA 5005, Australia

Received 12 May 2010; Accepted 12 July 2010

Academic Editor: S. B. Heymsfield

Copyright © 2011 Nimalie J. Perera et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


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 ( value 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.