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But diagnosis still elusive for vicious disease

Tuesday, May 06, 2003

By Virginia Linn, Post-Gazette Staff Writer

When Robert McGinnis was diagnosed with amyloidosis nearly five years ago, the first thought that came to his mind was: "That's the disease that Mayor Caliguiri had. " The retired Mt. Lebanon police officer faced the same grim outlook as anyone else at his stage of the condition: He'd probably be dead within a year.

Karin Watson's father died in March of amyloidosis, which took doctors 18 months to diagnose. She now spends a day a week outside doctors' offices and hospitals distributing literature about the disease in an effort to raise awareness. (Lake Fong, Post-Gazette)

By the time he was diagnosed after a 2 1/2-year search, abnormal deposits of proteins called amyloids had invaded all his organs, which would cause them to eventually fail.

As a last-ditch effort for McGinnis, doctors at the University of Pittsburgh Cancer Institute decided to try a stem cell transplant for the incurable condition.

In all, they've performed stem cell transplants on six amyloidosis patients, the latest early last month. And all patients are still alive.

McGinnis, 67, of Green Tree, credits the transplant for a chance to be around for his newest grandchildren, ages 2 and 4. "I might have missed them altogether," he said.

"Now there's a treatment that's reasonable," said Dr. Diane M. BuchBarker, a UPCI stem cell transplant specialist who is overseeing the patients' care. "For all these amyloid patients, they had no other chance."

While strides have been made in treatment, there still is no cure for the rare disease that took Pittsburgh Mayor Richard Caliguiri's life 15 years ago today.

And more needs to be done to help doctors diagnose the condition earlier, says Karin Watson of Allenport, who lost her father to the disease on March 4.

David Oswald of North Sewickley Township, a maintenance supervisor of Koppel Steel in Ambridge, had worked 40 years without missing a day of work. But then he started having shortness of breath, experienced unexplained weight loss and developed an irregular heartbeat. He saw eight specialists over 18 months before he received a diagnosis in December. By then he was too ill for a stem cell transplant, too weak for a heart transplant.

As his health declined, his family arranged a benefit dinner at an Ellwood City restaurant to raise awareness and research money. He didn't live to attend the March 8 dinner; his family buried him that morning.

"It's not right that anyone with amyloidosis is not diagnosed," said Watson, 37. "There was Mayor Caliguiri, the mayor from Erie, Governor Casey. This should be the No. 1 place for awareness."

Some high-profile victims

Amyloidosis affects an estimated 50,000 people a year worldwide -- 3,000 in the United States and Canada -- although just a fraction of these cases are diagnosed, according to the Amyloidosis Support Network. Most victims develop the condition after age 40. The disease triggers an irreversible buildup of toxic substances in vital organs and other tissues.

	Robert McGinnis has some lingering swelling in his legs from amyloidosis and uses a scooter to get around, but is able to get out of it to do things like pulling weeds in his Green Tree back yard. (Andy Starnes, Post-Gazette)

Caliguiri, who served as mayor between 1977 and his death in 1988, suffered most of the damage to his heart. Doctors had explored the feasibility of a heart transplant before he died at 56 in the early morning hours of May 6.

Erie Mayor Louis Tullio also died of the disease in 1990. Both had the most common form, called primary or systemic. Former Gov. Robert P. Casey developed the extremely rare, inherited form of the disease. He had a heart-liver transplant, and died seven years later in May 2000 at age 68.

It's a vicious condition.

"For people left untreated, 50 percent will be dead in a year," BuchBarker said. "For those who take the traditional chemotherapy, half will be dead within two years."

Some patients have found success with a drug combination, oral melphalan chemotherapy and prednisone, which destroys the blood plasma that produces the amyloid. But often at diagnosis, the disease has progressed so far that it's too late to turn the tide.

In the 1990s, Boston University Medical Center and the Mayo Clinic in Rochester, Minn., pioneered stem cell transplants for amyloidosis, providing new hope. In fact, statistics show that 60 percent of patients are still alive five years after the transplant, BuchBarker said. As these procedures have been refined, Pittsburgh doctors are having success in turning amyloidosis from a death sentence into a disease that can be managed through close monitoring.

	More info For symptoms and resources on amyloidosis, click here.

The peripheral stem cell transplant involves three steps: Patients for four days are given a growth factor called Neupogen, which fools the bone marrow into making extra stem cells that overflow into the bloodstream. An apheresis machine collects these cells from the blood, and they are stored in a freezer. The patient then receives one to two days of high-dose chemotherapy to destroy the blood plasma. The stem cells are retrieved from the freezer and then returned to the body.

"They gave me the stem cell transplant the 10th of December. I was home for Christmas," said McGinnis, who received the procedure in 1998. "There was not a lot of discomfort. There was nothing to it."

Some of the damage can be reversed, but not all. The amyloids damaged McGinnis's heart, weakening the pumping action. As a result, fluid collects in his legs, and he needs a scooter to get around in his yard or to go long distances.

Kathleen Mihalik, 49, of Johnstown, a mother of three, had a stem cell transplant at UPCI nearly three years ago. "I'm pretty much at the same activity level as I was before," she said.

A bookkeeper for the three grocery stores her family operates, she started experiencing swelling in both ankles in October 1999, and got a diagnosis the following February from a kidney biopsy. "I've had so many doctors, even in Pittsburgh, tell me I was really lucky."

During her procedure, doctors collected a second batch of stem cells, which are being preserved in case the need arises for another transplant, she said. But so far, she's remained in remission.

McGinnis, Mihalik and other amyloid transplant patients return to the cancer institute four times a year for tests. Last year, doctors found traces of new amyloid production in McGinnis and placed him on chemotherapy for a few months. That appears to have controlled the proliferation, BuchBarker said.

On the research front

A search for a cure is still under way.

When Caliguiri died, his widow, Jeanne, created a fund in his name to finance local research. The fund, managed by the Pittsburgh Foundation, has a market value of $909,706, with individual research grants available for up to $188,000. It recently lost its local researcher, Dr. Seth J. Corey, a former director of pediatric bone marrow transplantation at Children's Hospital, when he took a position in Texas.

Corey and a veterinarian had developed a mouse with some features of amyloidosis, considered a critical step in research.

Much of the advanced research is under way at the Mayo Clinic and Boston University Medical Center.

Jeanne Caliguiri said the foundation is searching for a new local researcher.

Because amyloidosis symptoms can turn up all over the body, it's difficult to pinpoint. Improving diagnostic techniques is crucial.

Blood and urine tests can detect the amyloid protein, but only bone marrow tests or small samples of tissue, often taken from abdominal fat, can positively establish diagnosis.

Watson, the daughter David Oswald, is so disturbed by the lack of awareness among some doctors that she takes a day each week from her job as a travel agent to hand out literature in doctors' offices in the region.

On her rounds, she wears a T-shirt that says, "Ask me about amyloidosis."

Caliguiri, who has spoken with Watson about her concerns, remembers her frustration when she first learned of her husband's disease before it made local headlines.

"I couldn't find a brochure on it. I couldn't find it listed in a medical encyclopedia," she said. "I know how frustrated I was."