Refsum Disease Treatment & Management

  • Author: Anna Zalewska, MD, PhD; Chief Editor: William D James, MD   more...
 
Updated: Aug 17, 2011
 

Medical Care

Three forms of medical care are used for Refsum disease (RD).

  • Diet (see Diet)
  • Plasmapheresis
    • The main indication for plasmapheresis in patients with Refsum disease is a severe or rapidly worsening clinical condition.[20]
    • A minor indication is failure of dietary management to reduce a high plasma phytanic acid level.
    • Cascade filtration may be an alternative for plasmapheresis. It is as efficient as plasmapheresis and eliminates the need for albumin replacement.[21]
  • Local dermatologic drugs to soften the skin (see Medication)

Pharmacological upregulation of the omega-oxidation of phytanic acid may form the basis of the new treatment strategy for adult Refsum disease in the near future.[22]

A clinical trial that may be of interest is Study of Bile Acids in Patients With Peroxisomal Disorders.

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Surgical Care

Bilateral cochlear implantation should be considered for patients with severe dual sensory loss.[23]

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Consultations

Because of the variety of different symptoms, these patients require consultation from different specialists.

  • Neurologist to estimate neurologic defects
  • Ophthalmologist to exclude ophthalmic impairments - tapetoretinal dystrophy (early manifeststion)[24]
  • Generalist (internal medicine specialist) to exclude abnormalities in the internal organs (especially cardiac ones)
  • Dermatologist to assess skin changes
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Diet

Diet is 1 of 3 types of regimens used to treat patients with Refsum disease.

  • Eliminate all sources of chlorophyll from the diet.
    • The major dietary exclusions are green vegetables (source of phytanic acid) and animal fat (phytol).
    • The aim of such dietary treatment is to reduce daily intake of phytanic acid from the usual level of 50 mg/d to less than 5 mg/d.
    • This change is accompanied by increased nerve conduction velocities, return of reflexes, and improvement in sensation and objective coordination.
  • Ichthyosis clears, and its recurrence may be a marker of rising phytanic acid level in blood.
  • Improvement in clinical status as a result of diet is due to the presence of alternative pathway oxidation omega-oxidation that is able to metabolize small amounts of phytanic acid.
  • Lifelong strict adherence to the diet is mandatory. A high carbohydrate intake should be provided to avoid a rapid weight loss as it metabolizes tissue phytanic acid.
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Contributor Information and Disclosures
Author

Anna Zalewska, MD, PhD  Professor of Dermatology and Venereology, Psychodermatology Department, Chair of Clinical Immunology and Microbiology, Medical University of Lodz, Poland

Disclosure: Nothing to disclose.

Coauthor(s)

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Specialty Editor Board

Jacek C Szepietowski, MD, PhD  Professor, Vice-Head, Department of Dermatology, Venereology and Allergology, Wroclaw Medical University; Director of the Institute of Immunology and Experimental Therapy, Polish Academy of Sciences, Poland

Disclosure: Stiefel GSK Company Salary Employment; Orfagen Consulting fee Consulting; Maruho Consulting fee Consulting; Astellas Consulting fee Consulting; Abbott Consulting fee Consulting; Leo Pharma Consulting fee Consulting

Michael J Wells, MD  Associate Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine

Michael J Wells, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, and Texas Medical Association

Disclosure: Nothing to disclose.

Jeffrey P Callen, MD  Professor of Medicine (Dermatology), Chief, Division of Dermatology, University of Louisville School of Medicine

Jeffrey P Callen, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and American College of Rheumatology

Disclosure: Amgen Honoraria Consulting; Abbott Honoraria Consulting; Electrical Optical Sciences Consulting fee Consulting; Celgene Honoraria Safety Monitoring Committee; GSK - Glaxo Smith Kline Consulting fee Consulting; TenXBioPharma Consulting fee Safety Monitoring Committee

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD  Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System

William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology

Disclosure: Elsevier Royalty Other

References

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  2. Jansen GA, Ofman R, Ferdinandusse S, et al. Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene. Nat Genet. Oct 1997;17(2):190-3. [Medline].

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  19. Duranti G, Boenzi S, Rizzo C, et al. Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders. Clin Chim Acta. Dec 2008;398(1-2):86-9. [Medline].

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