Madisons Foundation - Moms And Dads In Search Of Needed Support

What

Refsum disease is a rare disorder which, if untreated, causes blindness, nerve damage, and problems with balance. The disease occurs in individuals who are unable to break down phytanic acid from the diet and is usually treated exclusively by changing one’s dietary habits.

Who

Refsum disease is rare, with over 100 cases reported to date. Males are affected as often as females. The first symptoms of Refsum disease can present at any time between early childhood and the age of 50 years, but usually by the age of 20 years. Refsum disease is inherited within families in an autosomal recessive manner. For such autosomal recessive disorders, a person must have two copies of a broken gene (phytanoyl-CoA hydroxylase, or PhyH gene) to have Refsum disease. A person with only one copy of the broken gene and one copy of the normal gene does not have the disease, but is a carrier. If each parent is a carrier, there is a 1 in 4 (25%) chance with each pregnancy that the parents will have a child with Refsum disease. People who are carriers often do not know about their genetic pattern until they have a child with a disease; they have no control in knowing beforehand, and it is no one’s fault.

Signs and Symptoms

Refsum disease affects many parts of the body, including the eyes, the nervous system, and the skin. Retinitis pigmentosa, a degenerative disease of the retina, is commonly experienced, typically beginning with night blindness and progressing to tunnel vision and blindness. In addition, vision can be affected by cataracts and pupil abnormalities. Other senses besides vision may also deteriorate, such as smell or hearing. The majority of individuals with Refsum disease have nerve disorders, manifested by weakness and decreased sensation, as well as problems with balance. Skin, especially on the trunk, palms, and soles, becomes dry and scaly. Abnormalities of bones, such as shortening of the fourth toes, are characteristic. Occasionally, the heart may be affected causing rhythm disturbances.

Possible Causes

People with Refsum disease are not able to break down phytanic acid, a substance found in meat, FISH, and dairy products. Therefore, high levels of phytanic acid build up in the bloodstream and in tissues, causing neurological and ophthalmologic damage.

Diagnosis

To evaluate a person for Refsum disease, the level of phytanic acid in the blood and tissues can be measured. High levels of phytanic acid support a diagnosis of Refsum disease. In addition, more complex specific tests can be done looking for the broken gene that causes the disease. Other tests may be done to assess the severity of a person’s symptoms and to provide further evidence of disease. An evaluation of the spinal fluid usually shows elevated protein. Nerve and muscle tests generally show a slowing of nerve conduction. Examinations, such as an electrocardiogram (EKG), are generally done to determine if the heart is affected by Refsum disease.

Treatment

The treatment of Refsum disease involves eating foods low in phytanic acid. Individuals with Refsum disease should avoid dairy products, seafood, and specific types of meat, including beef, sheep, and lamb. Such dietary practices must be continued for life. Physicians can follow phytanic acid levels in the blood periodically and adjust dietary regimens as needed. Patients in which dietary control alone is ineffective may require plasma exchange, the removal and re-infusion of blood to directly eliminate phytanic acid from the bloodstream.

Prognosis

Starting a phytanic acid-restricted diet early on can reverse some of the nerve damage associated with the illness, as well as the skin abnormalities. Although the visual and hearing damage is not reversible, treatment can slow down or prevent the occurrence of further deterioration.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

National Institute of Neurological Disorders and Stroke
This site provides well written information about RD as well as links to ongoing clinical trials.

Refsum Disease
Detailed but easy to read description of Refsum disease with very specific dietary recommendations.

http://www.rpinternational.org/
Organization supporting research and providing information and support services regarding Retinitis Pigmentosa, a prominent feature in Refsum disease.

CLIMB
Website devoted to providing information and support for children living with metabolic disorders, including Refsum Disease.

United Leukodystrophy Foundation
United Leukodystrophy Foundation website providing support and information for patients and families with Rewfsum disease and related disorders.

Google Search for Refsum Disease

References and Sources

Wills AJ, Manning NJ, Reilly MM. Refsum’s disease. Q J Med 94:403-406, 2001. Menkes JH. Textbook of Child Neurology. 5th Edition. Swaiman KF. Pediatric Neurology: Principles and Practice.