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Rare but fatal

People living with amyloidosis struggle with pain and physical loss of control, but liver transplants give them hope

People living with amyloidosis struggle with pain and physical loss of control, but liver transplants give them hope

October 03, 2005|by KRISTIN WILSON

Martha Wiles' liver is totally normal except for one, critical, genetic mutation.

Her liver produces a mutant form of the protein transthyretin, or TTR. As this abnormal protein travels throughout her body, it is deposited along her nervous system, creating a thin film that shuts off nerve function.

Wiles, of Boonsboro, has a condition called amyloidosis, a disorder affecting thousands of Americans. But she is one of the lucky ones. In 2002, she received a liver transplant that effectively stopped the continued buildup of abnormal proteins.

Without treatment, the abnormal proteins continue to build up, coating the nerves in the arms and legs. Slowly, feeling is lost in the fingers and toes. Paralysis eventually sets in. Patients lose control of their arms and swallowing becomes nearly impossible. In the final stages, organs shut down as the protein attaches to the heart and kidneys.


As a hereditary amyloidosis patient, Wiles represents only about 10 percent of the people who have this disease. Ninety percent of patients have primary amyloidosis - abnormal proteins are produced in the bone marrow instead of the liver. "It's not inherited," explains Dr. Martha Skinner, director of the Amyloid Treatment and Research Program at Boston University School of Medicine. The cause of primary amyloidosis, "a very rapidly fatal disease ..., may be a random event or it may be an environmental factor" like exposure to chemicals or a virus, Skinner says.

Amyloidosis is diagnosed in about eight in every 1 million Americans each year, Skinner says. Hereditary amyloidosis patients are diagnosed at a rate of about one per 1 million Americans each year. Yet in the Tri-State region there are dozens of amyloidosis cases, with most occurring because of genetics.

Bill Geisler's 77-year-old body is slowly eroding from the inside out. Diagnosed with amyloidosis in 1989, the one-time farmer is trying to make the most of each day.

"I've come to live with it," Geisler says. "There's not too much you can worry about it. It's when I want to do something and I can't, that's when it's frustrating."

Amyloidosis has remained relatively obscure due to its rarity. In 1989, there were virtually no options for Geisler when he found out he had amyloidosis, the same disease that killed his mother and a sister.

Today, Geisler, of Mount Airy, Md., is wheelchair bound. He's lost almost all feeling in his feet and only with assistance can he walk a few steps. He is losing the use of his hands, and, as the proteins continue to build up along the nerves in his arms and fingers, the pain is excruciating.

"My hands hurt all the time," Geisler says. "It's kind of a cutting pain, numb. They are like icebergs all the time." Geisler can still feed himself and brush his teeth, but flipping the pages of a newspaper is tricky.

The amyloid protein buildup is causing gradual paralysis of Geisler's digestive tract. He also has lost the ability to swallow. His speech is impeded now, although it doesn't take away his love of chatting.

Geisler's wife, Almeda, says it is emotionally taxing to watch her husband decline from the healthy, active man that he once was.

"Plus, (there is) the fear that the children will inherit it," she says. "There's nothing that you can do about it."

With the genetic form of amyloidosis, there is a 50-percent chance that the disease gene will be passed from parent to child.

The Geislers have four children. One daughter, 48, is showing signs of amyloidosis with numbness in her extremities and is being checked for the disease.

Family problem

Richard Pryor, 57, of Wolfsville, Md., and his sister, Barbara Leiboldt, 63, of Boonsboro, watched amyloidosis take the life of their father over several years.

When they both started exhibiting signs of the disease - numbness and pain in their hands and feet - they decided to find out if something could be done.

Through Boston University, Pryor, Leiboldt and their first cousin, Wiles, all were put on a list to receive a liver transplant.

Doctors explained to the family members that they could stop the buildup of amyloid if they had a liver that did not produce such proteins. Between 2002 and 2004 Pryor, Leiboldt and Wiles received liver transplants that effectively stopped the progression of their amyloidosis. And the three patients were able to donate their amyloid livers to critically ill people who probably would have died without a transplant.

The livers of amyloid patients look and function normally, Skinner explains. The amyloid livers go to "people who wouldn't get to the top of the waiting list. They are obviously offered it knowing that it is not a normal liver."

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