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Liver Transplantation as a Treatment for Familial Amyloidotic Polyneuropathy
- Martha Skinner;
- W. David Lewis;
- Lee Anna Jones;
- Jessica Kasirsky;
- Kelly Kane;
- Shyr-Te Ju;
- Roger Jenkins;
- Rodney H. Falk;
- Robert W. Simms; and
- Alan S. Cohen
- From the Department of Medicine, Boston City Hospital; New England Deaconess Hospital, Boston, Massachusetts. Requests for Reprints: Martha Skinner, MD, Arthritis Center, Boston University School of Medicine, 71 East Concord Street, Boston, MA 02118. Acknowledgments: The authors thank Drs. Tsuranobu Shirahama and Orville Rodgers for help with the biopsy material and Ms. Barbara Jarvis for secretarial assistance. Grant Support: Supported by grants AR 40414, AR 20613, and RR 533 from the National Institutes of Health; grant IM 676 from the American Cancer Society; and a grant from the Arthritis Foundation.
No definitive treatment exists for familial amyloidotic polyneuropathy (FAP), an autosomal dominant disease associated with a mutant form of the protein transthyretin (prealbumin) [1]. Symptoms usually begin in middle life with peripheral neuropathy, autonomic dysfunction, cardiomyopathy, vitreous opacities, and occasionally renal failure. Death results from cardiomyopathy, malnutrition, or complications of autonomic neuropathy about 10 years after the onset of disease.
Treatment of FAP has been limited to supportive measures including cardiac pacemakers, dialysis, parenteral nutrition, and physical therapy. In 1990, investigators in Sweden proposed liver transplantation as a treatment to remove the major source of mutant transthyretin production. Since then, several patients with FAP in Sweden [2], Spain, and now the United States have received liver transplants. We report our experience in seven persons treated with transplantation in the United States.
Patients
All seven patients were seen and evaluated in the Thorndike Clinical Research Center of the Boston University School of Medicine at Boston City Hospital. All had an identified mutant transthyretin and were from three families known to be affected with FAP. All patients had biopsy results that showed amyloid deposition. Liver transplant evaluation and surgery were done by the liver transplant unit at the New England Deaconess Hospital in six of the patients and at …
