Refsum Disease: Treatment, Procedure, Cost and Side Effects

Refsum disease is a rare autosomal recessive neurological disease that is caused due to the excessive accumulation of phytanic acid in cells and tissues. This is caused by the malfunction of genes that metabolizes the acid. The genes which cause the failure of metabolism in phytanic acid is traced back to the short arm of chromosome 10 and the long arm of chromosome 6. Refsum disease is a conventional adolescent onset where the diagnosis shows an above average level of phytanic acid in the body.

Affected individuals have a problem of cerebral degeneration, neurological damage, along with peripheral neuropathy. The usual characteristics of the disease show progressive loss of vision or retinitis pigmentosa, failure of muscle coordination along with dry, rough and scaly skin, unsteady walking, enlargement of the liver and defective metabolism of bile acid. Refsum disease is a genetic disorder which is also known as leukodystrophies. Due to the disruption of lipid metabolism and myelin sheath which protects the nerves of the brain, the disease starts emerging. Refsum disease is normally observed in individuals from their early childhood until around the age of fifty. Individuals have been reported to see the symptoms around the age of twenty as well.

The treatment for Refsum disease calls for a strict adherence to a diet with low consumption of fats from certain fishes and animals like, cod, tuna, haddock and beef. Dairy products like milk and cheese are also to be avoided. Individuals who are diagnosed with Refsum disease are put on a phytanic-acid restricted diet as phytanic acid is not produced in the body. The consumption of phytanic acid should be below 10 mg as prescribed by doctors. A thorough check on the weight should also be kept as the loss of weight can cause the release of stored phytanic acid in the body.

In case there is an issue with the reduction of phytanic acid from the fat tissues, a replacement of plasma can also help. Other alternative which can be used as a method of treatment of Refsum disease is Cascade filtration for plasmapheresis. This procedure eliminates the need for albumin replacement completely. In order to help soften the hard and scaly texture of the skin, certain local dermatologic drugs can also be used.

Refsum disease can be treated with the help of a strict diet which avoids dairy products like milk and cheese along with various kinds of meats and fishes. Since the primary source of treatment is a strict diet, there are no recorded side effects which are observed with this simple method of treatment.

However, in case of the need of plasmapheresis, certain side effects like nausea, decrease in blood pressure, muscle cramps and urticarial are frequently noticed.

Not applicable.

The cost of the test done for Refsum disease is approximately Rs 30,000. Each appointment for the doctor can range from Rs 500-1000.

Refsum disease is a genetic disorder which cannot be completely treated. However, with constant adherence to a diet and regular medical checkup, the cardiac, neurological and dermatological problems can be regulated. Even then, the visual and hearing impairments are less likely to respond well.