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Battling Bone Marrow Diseases

Unlocking mysteries of rare disorders could help with more prevalent health problems

TUESDAY, Dec. 2, 2003 (HealthDayNews) -- Aplastic anemia and other related bone marrow diseases are relatively rare in the United States, with about 40,000 new cases occurring each year.

But research into the diseases -- in which the body slows or stops the production of healthy blood cells -- could help provide insight into more prevalent health problems, such as heart disease, researchers say.

To heighten awareness about the conditions, Dec. 1-7 has been designated National Aplastic Anemia Awareness Week. In addition, the National Institutes of Health recently awarded a $4.5 million grant to spur additional research.

The Cleveland Clinic Foundation and Dr. Jaroslaw P. Maciejewski will use the money to create a clinical research center dedicated to studying the bone marrow disorders.

The diseases have attracted federal support, in part, because they involve damage to stem cells. And stem cells have attracted much research attention due to their potential regenerative powers and ability to transform themselves into a host of different cells.

"There are scientific reasons to use rare diseases in studies because they provide clues to treating more common diseases," Maciejewski says of his research. "For example, bone marrow is one of the best places to learn more about adult stem cells and their regenerative properties."

There are many rare bone marrow diseases, but the most common are aplastic anemia and myelodysplastic syndromes, or MDS.

The symptoms of these diseases tend to be extreme versions of common medical problems, says Marilyn Baker, executive director of the Aplastic Anemia & MDS International Foundation Inc.

For example, a victim might suffer from drastic bruising. "You open a pickle jar, and the next day your hand is all bruised and swollen," she says.

Other symptoms could include hemorrhaging, extreme fatigue and chronic illness. "To one of our patients, a cold would never go away and would turn into pneumonia," she says.

Baker cautions that people suffering these symptoms do not necessarily have bone marrow disease. They should ask their doctor for a simple blood test that can determine whether they do.

Aplastic anemia occurs when the bone marrow stops making enough blood cells, leaving the marrow almost empty of blood-forming cells. About 1,000 new cases of the disease appear each year in the United States.

MDS happens when bone marrow begins producing poorly functioning or immature blood cells. This disorder is more common, with about 20,000 to 30,000 new cases each year.

Doctors have little idea what causes the diseases. "The strange thing about this is there is no smoking gun," Maciejewski says.

Some known potential causes are exposure to radiation or toxins. "Sometimes cancer patients get our disease as a result of their radiation treatment," Baker says. "Others have been exposed to benzene, pesticides or insecticides."

As recently as 20 years ago, aplastic anemia was considered fatal, but advances in drug therapies and bone marrow transplantation have allowed doctors to extend the lives of victims by years. Remission rates now are 60 percent to 80 percent, up from about 30 percent a decade ago, Baker says.

"It is still often fatal," she says. "The president of our association has lived with the disease for 13 years, but there are other patients I know who pass away within six weeks."

MDS sufferers are less fortunate. Remission rates have not improved, although care has improved and the number of clinical trial opportunities has also increased, Baker says.

Standard treatment for bone marrow failure diseases involve bone marrow transplants and immunosuppressive drug therapy. For patients who can't benefit from those treatments, experimental options are available. Most sufferers must undergo regular blood transfusions.

The diseases are highly specialized, Maciejewski says, meaning that specific treatment often depends on the individual sufferer.

"If a patient is 10 years old, you wouldn't think twice before going to transplantation," he says. "If the patient is 70, you think three times before going there."

Because the diseases are so rare, and because complex decision-making is necessary in choosing the right treatment, experts urge patients to work with a hematologist who specializes in the specific bone marrow failure disease in question.

The $4.5 million grant is part of an overall NIH effort to increase research into rare diseases. Other centers in the NIH Rare Disease Research Network will study rare lung conditions, nervous system disorders and rare genetic steroid disorders.

More information

To learn more about aplastic anemia and MDS, visit the Aplastic Anemia & MDS International Foundation Inc. and the University of Texas.

SOURCES: Jaroslaw P. Maciejewski, M.D., Cleveland Clinic Foundation, Cleveland; Marilyn Baker, executive director, Aplastic Anemia & MDS International Foundation Inc., Annapolis, Md.
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