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Information for patients, their families and helpers

The facts: Treatment

The main treatment for adult Refsum's disease is dietary and requires the expertise of a dietitian. The principles are clear. First, the patient should eat sufficiently well to prevent loss of weight. When the weight falls the fat stores are used up for energy, but the phytanic acid released from these stores is not removed, so it accumulates in the blood and makes the patient ill. Second, the patient should avoid foods containing significant phytanic acid, which means fat from animals which live chiefly on green plants. In Europe, this is mostly milk products and fat from mutton and beef and fish. Many prepared foods contain such products. By reducing the intake of these fats the intake of phytanic acid is lessened considerably and the patient is likely to improve or remain well, although the retina will not regenerate. Other methods of treatment, such as plasma exchange, may be needed if the patient is very ill and the disease is life threatening. This requires a specialist service. In addition one of the most important things a patient can do is to keep in good general health by eating, resting and exercising sensibly.

A patient with adult Refsum's disease is best managed by doctors and dieticians with a working knowledge of the illness.

Next: The future

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Page last updated 26 June 2006