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BWH's Elizabeth Henske studies LAM cells to one day improve treatments of the disease.
A young woman is out of breath after walking up a half-flight of stairs. Her symptoms appear to be that of emphysema, yet she has never smoked (the leading cause of emphysema). She does not have any associated risk factors, and her chest X-rays appear normal. How could one ever suspect a rare lung disease?
LAM, or lymphangioleiomyomatosis, is a rare lung disease that mostly affects women of childbearing age. The disease begins when abnormal, muscle-like cells from other parts of the body invade the lungs. Once in the lungs, these LAM cells metastasize, or grow out of control, eventually destroying normal lung tissue.
The disease begins slowly, often with a gradual progression of trouble breathing, and sometimes leads to a collapsed lung or end-stage lung disease. The prognosis is often devastating-ongoing assistance of an oxygen tank to breathe, a lung transplant or death at an early age.
LAM, which is caused by a gene mutation, usually affects women between the ages 20 to 40.
"There are almost no diseases that have such a strong gender pre-disposition, " said Elizabeth Henske, MD, director of the BWH Center for LAM Research and Clinical Care. "LAM has an even stronger female pre-disposition than breast cancer."
Many women who have LAM may not even know they have it, since the signs and symptoms are similar to those of other diseases, such as asthma, emphysema and bronchitis.
"Young women who were previously healthy and who have young families are facing this life-threatening disease that can progress unexpectedly with the prospect of losing their ability to live a normal life," said Henske. "Sometimes these women or their physicians think that it is normal to be a little short of breath and tired due to having young children, or just being very busy in life and career. So symptoms can also mimic normal, busy life."
Images of the LAM cells Henske studies.
Helping Patients Breathe Better
Henske and her team devote their time to studying LAM cells in order to one day improve treatments against the debilitating disease.
By identifying better LAM biomarkers in the blood, Henske believes clinicians can improve their management of patients with LAM.
"The only way to know if a woman with LAM is getting better or worse is to track her lung function, basically how much air a patient can blow out through a tube," Henske said. "This is not a very precise test. We want to have a more precise way to know if LAM is getting better or worse, such as a blood test."
Henske's research team is also involved in clinical trials testing two drugs in combination, each of which is FDA-approved to treat other diseases, to find out if they may also be safe and effective for the treatment of LAM.
Changing Lives
A piece from a quilt that was given to Henske by the LAM Foundation.
Henske's research continues to drive overall national efforts in finding better treatments against LAM. Her work is also one of passion to help women struggling with the disease.
"Fourteen years ago, I first attended a meeting hosted by the LAM Foundation," said Henske. "At the time, I had young children myself, and many of these women who had LAM also had young children, and they were literally struggling to breathe. I realized that the work we were doing could change the course of their lives."