woman holding chest in discomfort

LAM: Helping Young Women Overcome a Rare Lung Disease

Private: Elizabeth P. Henske, MD
Contributor Elizabeth P. Henske, MD

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 risk factors for emphysema, and her chest X-rays appear normal. How could she ever suspect a serious lung disease?

LAM (lymphangioleiomyomatosis) is a rare lung disease caused by a gene mutation that mostly affects women in their childbearing years (ages 20 to 40). 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 (grow out of control), eventually destroying normal lung tissue.

Dr. Elizabeth Henske, Director of the Center for LAM Research and Clinical Care at Brigham and Women’s Hospital, is hoping to change the lives of young women suffering from LAM. She leads a research team that is working to improve diagnosis and test new treatments for this debilitating disease.

LAM begins slowly, often with a gradual progression of trouble breathing, and sometimes leads to a collapsed lung or end-stage lung disease. 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. The prognosis is often devastating: ongoing assistance of an oxygen tank to breathe, a lung transplant, or death at an early age.

Though LAM is considered a rare disease, it has an especially strong predisposition to occur in young women, even stronger than breast cancer.

While doctors do not yet know what causes LAM, the recent discovery of similarities between two different types of LAM – sporadic LAM and LAM that appears in people with Tuberous Sclerosis Complex (TSC) – has begun to provide some valuable clues about genes involved in both conditions. The rate of disease progression varies considerably among women. Some women have aggressive disease and experience rapid progression within a couple of years, while for others, the disease may advance quite slowly for many years.

“Seventeen years ago, I first attended a meeting hosted by the LAM Foundation,” says Dr. 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.”

Private: Elizabeth P. Henske, MD
Elizabeth P. Henske, MD

Elizabeth P. Henske, MD, is Director of the Center for LAM Research and Clinical Care and Co-Director of the Pulmonary Genetics Center at Brigham and Women’s Hospital. She also is Professor of Medicine at Harvard Medical School. Her clinical and research interests include improving diagnosis and developing new treatments for LAM and studying the genetics of lung disease.

Before you go,

Learn about managing lung conditions, from asthma to COPD and lung cancer, and what treatment options can help you optimize your health. Read more articles about lung conditions.