Newswise — Tens of millions of people know what it's like to suffer the seasonal torment of allergies, when just a whiff of pollen, mold or dust can set off a chain reaction in the body that causes sniffling, sneezing and coughing.
But for some people, the cells that control that chain reaction go completely haywire, reproducing wildly and creating reactions that can range from a persistent rash and tiny red skin bumps to repeated episodes of life-threatening anaphylactic shock or leukemia-like symptoms.
This mysterious family of diseases, all caused by the over-production of the mast cells that release histamine and bring on the body's immune response, goes by the general name of mastocytosis. There's no cure or fully effective treatment for its rarest, most debilitating forms, and the root causes of all its forms are still unclear.
Now, a new University of Michigan Health System program has launched an all-out effort to help those who have mastocytosis, and to study its origins. The team members hope their research will lead to better treatments for various forms of the disease. But their studies' findings could help regular allergy sufferers, too.
Cem Akin, M.D., Ph.D., leads the team, which is one of only a handful in the country specializing in mastocytosis research and treatment. He came to Michigan from the National Institutes of Health, where he helped discover new ways of distinguishing different forms of mast cell diseases and selecting the best treatment for each.
Akin's team has just begun recruiting participants for a new clinical trial that will look at the blood and bone marrow of mastocytosis patients to find clues about how different forms of the disease work.
And, they have started a weekly clinic to diagnose and treat mast cell diseases in people referred by doctors throughout the country, including patients with unexplained symptoms who need specialized testing.
The U-M clinic and research are funded in part by an extraordinary grant from The Mastocytosis Society, which raised $44,000 from individual donations given by people with the disease. TMS helps patients, caregivers and medical personnel understand mast cell disorders and the impact they have on patients' lives, and recently launched a new informational web site, www.tmsforacure.org. Akin will speak at the group's 10th annual national meeting in Ohio in October.
"It's an exciting time, because we're finally starting to understand the genetic basis of this family of diseases, and that can guide testing and treatment," says Akin, an assistant professor of allergy and clinical immunology at the U-M Medical School.
"This is offering new hope that many patients who have gone for years with undiagnosed symptoms after seeing numerous physicians can finally receive specialized attention," Akin adds. "And the understanding of mast cells we're gaining may be useful in more common conditions such as seasonal allergies."
Akin's team is using some of the unique facilities at UMHS to tackle mastocytosis research and treatment. After patients' blood and bone marrow samples are taken, they'll be tested at U-M labs for specific genetic mutations and other hallmarks of different forms of mastocytosis. And researchers from the U-M Comprehensive Cancer Center will collaborate with Akin on his research, since the over-production of mast cells is a cancer-like, or neoplastic, condition.
Even as the research continues, Akin hopes that the new clinic can give mastocytosis patients the kind of comprehensive attention they may not get from some doctors who haven't treated the disease or aren't aware of recent advances in managing it.
Many mastocytosis patients benefit from regular use of antihistamines to calm itching and skin flushing. They can also use medicines to ease digestive symptoms, such as nausea, diarrhea and excess stomach acid. Some patients must carry emergency medications that they can inject in case of anaphylactic shock, similar to people with severe food or insect allergies.
Akin hopes that bone marrow transplants may help the most severe cases, but more research is needed. And in the future, he hopes that targeted treatments will take aim at the specific varieties of mast cells involved in an individual's disease.
Mast cells exist throughout the body, all serving the important function of sounding the alarm for the immune system when triggered by an external or internal factor. But each area of the body has mast cells that are slightly different, and the symptoms of mastocytosis can vary tremendously depending on which organ systems' mast cells are increased.
For example, some mastocytosis develops in the mast cells of the skin, causing red spots, reddish areas or freckle-like rashes called urticaria pigmentosa; often these are seen in children but will disappear by young adulthood. But adults can experience severe internal organ symptoms if the mast cells inside their bodies start being produced uncontrollably. These are often the most severe cases.
Because many people who have mastocytosis don't know it, Akin hopes that people with unexplained collections of symptoms consistent with mastocytosis will seek help at U-M. Often, patients have vague pain, faintness, feelings of being hot, or weakness. And some enter anaphylactic shock when their blood pressure drops precipitously as blood vessels react to local action by too many mast cells.
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