Familial Dysautonomia Health Article

Diagnosis

The presentation of FD varies between affected people. However, of the many manifestations of the disease, five signs are key to the diagnosis:

• flat, smooth tongue due to lack of taste buds,
• lack of red flare following histamine injection under the skin,
• decreased or absent deep tendon reflexes,
• absence of overflow tears with emotional crying,
• parents of Ashkenazi Jewish background.

Other frequent signs are decreased response to pain and temperature, decreased corneal reflexes, unstable blood pressure, low blood pressure when standing erect, red blotching of the skin, and increased sweating. Further supportive evidence of the FD diagnosis are feeding difficulties, repeated aspiration pneumonia, episodes of low body temperature, breath holding spells, poor muscle tone, delayed motor development, repeated vomiting, spinal curvature, and poor growth. Prenatal diagnosis, screenings for carrier status, and genetic counseling are available.

Treatment and management

The identification of the FD gene as IKBKAP was reported in March 2001, and is expected to lead to new treatment approaches as the function of the gene is better understood. Until that time, treatment is preventive and supportive. Management of vomiting crises is attempted with drugs, replacement of body fluids, prevention of aspiration of stomach contents into lungs, control of blood pressure, and promotion of sleep. Care of the eyes includes artificial tears, eyewashes, and topical antibiotics to avoid ulcers of the cornea. Early and adequate treatment of even mild infections is important to avoid triggering vomiting crises. Children should be protected from injury and watched for any unusual swellings or skin discolorations as a way of coping with decreased pain and temperature perception.

Physical and occupational therapy, braces, and other orthopedic aids are used for spinal curvature and poor motor coordination. Speech therapy, special feeding techniques, and respiratory care enhance quality of life. It is important to maintain adequate fluid intake and avoid situations such as high elevations, air travel, and diving underwater where oxygen concentration is decreased. Psychological intervention is helpful to alleviate emotional instability and mood swings in children and depression, anxiety, and phobias in adults.

Prognosis

The disease process of familial dysautonomia can not be prevented at present but 80% of affected individuals survive beyond childhood and 50% reach age 30. With the 2001 determination of the exact location of the gene abnormality, prospects for new treatments and possible gene therapy are on the horizon.

BOOKS

Gilbert, Patricia. Riley-Day Syndrome. The A-Z Reference Book of Syndromes and Inherited Disorders. 2nd ed. San Diego: Singular Publishing Group, Inc., 1996.

PERIODICALS

Axelrod, Felicia B. "Familial Dysautonomia: A 47-year Perspective." Journal of Pediatrics 132, no.3 (March 1998): S2-5.

Gelbart, Marsh. "In Our Parents' Shadow. Riley-Day Syndrome." Nursing Times 95, no. 6 (February 10-16, 1999): 33.

ORGANIZATIONS

Dysautonomia Foundation, Inc. 633 Third Ave., 12th Floor, New York, NY 10017-6706. (212) 949-6644. <www.med.nyu.edu/fd/fdcenter.html>.

Marianne O'Connor, MT (ASCP), MPH