Refsum Disease Treatment & Management

Updated: May 22, 2020
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
  • Print
Treatment

Medical Care

The following 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. [25]  A minor indication is failure of dietary management to reduce a high plasma phytanic acid level. [26]  Cascade filtration may be an alternative for plasmapheresis. It is as efficient as plasmapheresis and eliminates the need for albumin replacement. [27]

  • Local dermatologic drugs to soften the skin (see Medication)

Although there is no cure, phytanate levels in Refsum disease patients can be reduced by plasmapheresis and a strict diet. [28]

Pharmacological up-regulation of the omega-oxidation of phytanic acid may form the basis of the new treatment strategy for adult Refsum disease in the near future. [29]

Next:

Surgical Care

Bilateral cochlear implantation should be considered for patients with severe dual sensory loss. [30, 31, 32]

Previous
Next:

Consultations

Because of the variety of different symptoms, these patients require consultation from different specialists, as follows:

  • Neurologist to estimate neurologic defects

  • Ophthalmologist to exclude ophthalmic impairments - tapetoretinal dystrophy (early manifeststion) [33]

  • Generalist (internal medicine specialist) to exclude abnormalities in the internal organs (especially cardiac ones)

  • Dermatologist to assess skin changes

Previous
Next:

Diet

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. Periodic monitoring of fat-soluble vitamins, vitamin B-12, copper or selenium, and sodium should be performed. [34]

Previous
Next:

Prevention

Theoretically, prenatal diagnosis supported by testing of cultured amniocytes is possible. Screen all members of a family, including a person with Refsum disease, to reveal other presymptomatic cases.

Previous