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Researchers make progress against lung disease attacking women in childbearing years
December 11, 2006Researchers are advancing against a rare, deadly lung disease (related to hormones) that no one had even heard of a decade ago. The disease targets only women, striking them down during their childbearing years. It can be triggered by pregnancy, progresses rapidly, and often results in death within ten years.
Vera Krymskaya, PhD, Research Associate Professor of Medicine in the Pulmonary, Allergy and Critical Care Division at the University of Pennsylvania School of Medicine, has dedicated the last several years of her career to combating Lymphangioleimyomatosis (LAM). The disease causes extensive, abnormal smooth muscle-like cell proliferation, which invades and destroys the tissues of the lung by forming cysts, eventually obstructing the flow of air and leading to lung collapse and failure.
Solving the puzzle"¦
Globally, researchers tackled the first step, finding out what caused the cell proliferation and identifying the mutating gene that was responsible. Next, Krymskaya's lab at the University of Pennsylvania was responsible for the breakthrough step of discovering the function of the gene that caused the cell malfunction, paving the way for a potential treatment utilizing a medication to inhibit abnormal growth. This treatment is now in a clinical trial.
As many as 250,000 women may be suffering from LAM, but many are misdiagnosed with asthma or emphysema or remain undiagnosed. Krymskaya explains "the key to combating this disease is to educate physicians to know how to diagnose LAM and treat it in its earliest stages before the damage to the lung is done and a transplant is needed. A biopsy and a high resolution CT scan, not just an X-ray, are needed to detect LAM."
Sue Byrnes-who founded The LAM Foundation, an international non-profit organization focused on research, after her daughter was diagnosed with LAM, adds, "This heart wrenching disease strikes women as they are beginning their careers, getting married and starting families, just when their futures look so bright. Women with LAM often struggle to breathe. They experience lung collapses, chest pain, cough, and can become extremely fatigued. Many of them develop a benign kidney tumor. Supplemental oxygen is inevitable, and a lung transplant, which usually buys them only a few years, is the very last resort for survival."
One woman's struggle"¦
43-year-old Sheila Egan Addis, a Philadelphia theatrical performer and mother of two, who lives in Center City, started suffering from alternating collapsed lungs when she turned 30. "It felt like a sharp pain in my upper back, like I'd pulled a muscle when I tried to take a deep breath," Egan Addis comments. After the third time each lung had collapsed, surgeons went in to restore some of the lung function. Nine years after she began suffering symptoms, a Penn pulmonologist finally diagnosed her with LAM disease. "Finally, it all made sense," Egan Addis adds.
Two years ago, her right lung collapsed again and she was operated on. Egan Addis has since lost some more lung function. She says it does take a toll on a performer in live musical theater, "I don't have the stamina that I used to. I can't do a lot of running around and singing. I have to think about it before taking on a challenging role. The pace of live theater can be very tiring and draining physically."
There is hope"¦
Krymskaya's discovery in 2002 revealed that abnormal smooth muscle-like LAM cells invading the lungs are due to the loss of growth control by tuberous sclerosis (a genetic disorder which causes tumors to form in organs) complex proteins-and furthermore, Krymskaya then discovered that growth can potentially be controlled by a drug (FDA-approved Rapamycin), which mimics the function of the missing proteins. Krymskaya made the link between similar basic research found in flies and applied it to humans, opening the door for the first-ever LAM treatment clinical trial now underway.
Globally, researchers are excited about discovering more about LAM because of the close relationship between it and other diseases. "If we solve this puzzle, it may very well lead to answers regarding other deadly diseases like heart and vascular disease, cancer and diabetes," Krymskaya notes.
University of Pennsylvania School of Medicine
Globally, researchers tackled the first step, finding out what caused the cell proliferation and identifying the mutating gene that was responsible. Next, Krymskaya's lab at the University of Pennsylvania was responsible for the breakthrough step of discovering the function of the gene that caused the cell malfunction, paving the way for a potential treatment utilizing a medication to inhibit abnormal growth. This treatment is now in a clinical trial.
As many as 250,000 women may be suffering from LAM, but many are misdiagnosed with asthma or emphysema or remain undiagnosed. Krymskaya explains "the key to combating this disease is to educate physicians to know how to diagnose LAM and treat it in its earliest stages before the damage to the lung is done and a transplant is needed. A biopsy and a high resolution CT scan, not just an X-ray, are needed to detect LAM."
Sue Byrnes-who founded The LAM Foundation, an international non-profit organization focused on research, after her daughter was diagnosed with LAM, adds, "This heart wrenching disease strikes women as they are beginning their careers, getting married and starting families, just when their futures look so bright. Women with LAM often struggle to breathe. They experience lung collapses, chest pain, cough, and can become extremely fatigued. Many of them develop a benign kidney tumor. Supplemental oxygen is inevitable, and a lung transplant, which usually buys them only a few years, is the very last resort for survival."
One woman's struggle"¦
43-year-old Sheila Egan Addis, a Philadelphia theatrical performer and mother of two, who lives in Center City, started suffering from alternating collapsed lungs when she turned 30. "It felt like a sharp pain in my upper back, like I'd pulled a muscle when I tried to take a deep breath," Egan Addis comments. After the third time each lung had collapsed, surgeons went in to restore some of the lung function. Nine years after she began suffering symptoms, a Penn pulmonologist finally diagnosed her with LAM disease. "Finally, it all made sense," Egan Addis adds.
Two years ago, her right lung collapsed again and she was operated on. Egan Addis has since lost some more lung function. She says it does take a toll on a performer in live musical theater, "I don't have the stamina that I used to. I can't do a lot of running around and singing. I have to think about it before taking on a challenging role. The pace of live theater can be very tiring and draining physically."
There is hope"¦
Krymskaya's discovery in 2002 revealed that abnormal smooth muscle-like LAM cells invading the lungs are due to the loss of growth control by tuberous sclerosis (a genetic disorder which causes tumors to form in organs) complex proteins-and furthermore, Krymskaya then discovered that growth can potentially be controlled by a drug (FDA-approved Rapamycin), which mimics the function of the missing proteins. Krymskaya made the link between similar basic research found in flies and applied it to humans, opening the door for the first-ever LAM treatment clinical trial now underway.
Globally, researchers are excited about discovering more about LAM because of the close relationship between it and other diseases. "If we solve this puzzle, it may very well lead to answers regarding other deadly diseases like heart and vascular disease, cancer and diabetes," Krymskaya notes.
University of Pennsylvania School of Medicine
Lung Disease Current Events and Lung Disease News RSSSurvey: Awareness of COPD is rising, but understanding is still low
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Multicenter study led by pitt finds early results of therapy for preemies not sustained
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Geneticists Hunt for Scleroderma Triggers
At its most benign, the autoimmune disease scleroderma can discolor parts of the skin of its sufferers. At its most pernicious, it can thicken and harden their skin, their blood vessels, and their internal organs before, in many cases, killing them.
Thyroid surgery safe for older patients, study finds
Thyroid surgery is safe for older patients, say physicians who found only slight differences in rates of complications and hospital readmissions in a multi-year study.
Drug could provide first treatment for scleroderma
Investigators have identified a drug that is currently approved to treat certain types of cancer, Gleevec, that could provide the first treatment for scleroderma, a chronic connective tissue disease for which a treatment has remained elusive.
People who work after retiring enjoy better health, according to national study
Retirees who transition from full-time work into a temporary or part-time job experience fewer major diseases and are able to function better day-to-day than people who stop working altogether, according to a national study.
UT scientists discover link between protein and lung disease
In a development that could lead to a novel approach to the treatment of a devastating lung disease, biochemists at The University of Texas Health Science Center at Houston report they are the first to link the osteopontin (OPN) protein to chronic obstructive pulmonary disease (COPD).
UAB Researchers Find TB-Prevention Therapy Is Cost-Effective Option
University of Alabama at Birmingham (UAB) researchers have found that the cost of preventive antibiotic tuberculosis (TB) therapy for patients infected by human immunodeficiency virus (HIV) is generally less expensive than the reported cost of treating newly confirmed TB cases.
New vaccine shows promise for COPD patients at risk for pneumonia
A new vaccine against pneumonia may offer better protection from chronic obstructive pulmonary disease (COPD) patients than the currently accepted vaccine, according to recent research that will be published in the September 15 issue of the American Journal of the Respiratory and Critical Care Journal, a publication of the American Thoracic Society.
New genes at work in patients with hereditary lung disease
University of Florida researchers have safely given new, functional genes to patients with a hereditary defect that can lead to fatal lung and liver diseases, according to clinical trial findings slated to appear this week in the online early edition of the Proceedings of the National Academy of Sciences.
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