(PHILADELPHIA) -- Researchers 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, Krymskayas 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,