Familial Amyloidotic Polyneuropathy

Tuesday, January 28, 2003

Familial amyloidotic polyneuropathy (FAP) is an inherited disorder in which the liver produces a mutation of transthyretin, a protein found in the liver. Deposits of this abnormal protein elsewhere in the body cause sensorimotor problems, neuropathy and heart disease, as well as gastrointestinal disorders.

FAP is a steadily progressive disease for which no cure has yet been found. The current preferred treatment for FAP is liver transplantation, under the right set of medical circumstances.

Replacing the liver through transplantation means that the source of the mutant protein production is removed. A healthy new liver will make only normal protein. Studies have shown that transplantation of the patient with FAP results in beneficial therapeutic outcomes and that the progression of FAP symptoms stops. The patient's quality of life is considerably improved.

The disorder was first diagnosed in Portugal in 1952 and is considered a rare disease affecting only about eight persons per million annually. Although the disease at first was thought to be endemic to certain geographic areas worldwide, it is now known that it is found in families of nearly every ethnic background.

The goal of treatment through transplantation is to limit further production of the amyloid protein. (There is no link between amyloidosis and dietary intake of protein.)

In the case of Mayo Clinic patient, James Cashman, 43, his father died of a "mystery illness" in 1975. It was only later, after his death, that it was discovered he had FAP. James Cashman, the son, began to develop symptoms at age 40, which led him to suspect FAP. He began treatment at Mayo Clinic in Scottsdale in 2001, and received a liver transplant on Jan. 22, 2003.

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