Women with LAM shouldn’t feel isolated
A number of women across the country are awaiting lung transplants because of a rare disease that affects women almost exclusively, and generally during their childbearing years. LAM (lymphangioleiomyomatosis) was first described in medical literature in 1937, but little else has been written. It’s become more common in the past five to 10 years, but that could be because doctors are better at diagnosing it.
What is LAM? An unusual type of muscle cell invades the airways, lymph vessels and blood vessels of the lungs, and in time forms bundles that create blockages. Although not cancerous, the cells grow similarly, in an unrestricted manner.
Doctors are unsure what causes LAM, but the LAM Foundation, established in 1995, has discovered a possible link with the genetic disease tuberous sclerosis. In tuberous sclerosis, genetic mutation in the parent is responsible for the disorder.
Researchers hope the genetic link between these two diseases will someday provide an effective drug therapy designed to block inappropriate cell growth in LAM patients.
The symptoms of LAM can be mistaken for asthma or even emphysema, resulting in frequent misdiagnosis. The most common symptom, shortness of breath during or after physical activity, gradually leads to breathing problems even while at rest.
Another typical symptom is chest pain. In some cases, patients cough up blood. The lungs might even collapse for no apparent reason. LAM is usually progressive and results in impaired lung function.
Various tests are currently used to diagnose LAM, but some are better than others. A simple chest x-ray can confirm the presence of fluid in the lungs, but is not always effective in spotting the cysts generally produced in LAM patients.
Pulmonary function tests (breathing tests) can measure overall performance in LAM but can’t be relied on to make the initial diagnosis. Likewise, blood tests will only tell how efficient the lungs are.
One of the most useful diagnostic tools, according to the LAM Foundation, is a CT scan (computed tomography). A CT scan is capable of picking up the thin-walled cysts consistent with the disease through the use of multiple images of the lungs and chest.
Nearly half of all LAM patients will also have a benign kidney tumor. These tumors are sometimes the first conclusive marker of the disease.
But for a truly definitive diagnosis of LAM, a lung biopsy may need to be performed. Hopefully for the patient, the doctor can diagnosis, or better yet, rule out LAM with less invasive methods.
Treatment for LAM varies from patient to patient, at least as far as effectiveness is concerned. Because the disease is almost exclusive to women, scientists suspect a possible relationship to estrogen. As a result, LAM patients are often prescribed progesterone to reduce the effects of estrogen. In some cases, the ovaries are completely removed. Doctors may also recommend avoiding pregnancy.
In many cases, oxygen therapy is a must, as lung function decreases. In the most extreme case, lung transplantation is considered, but only as a last resort.
The effects of LAM on an individual will vary, but usually in the early stages the patient can still go about her usual routine – work, school and physical activities. In the advanced stages, impaired lung function will impact these activities to some degree.
Doctors recommend patients with LAM eat a healthy diet, exercise as much as is tolerated, get plenty of rest, and obviously, do not smoke. Traveling to remote areas or high altitudes is also discouraged.
Women with LAM can feel very isolated and misunderstood. The LAM Foundation publishes a directory of LAM patients who have consented to make themselves available to others, whether patients or physicians.
In addition, the National Heart, Lung and Blood Institute of the National Institutes of Health has established a national registry of LAM patients through a number of major health clinics across the country, including the Cleveland Clinic Foundation and the Mayo Clinic in Rochester, Minn. Participation is voluntary, but information gathered is expected to further the research currently being done.
For more information, contact the LAM Foundation in Cincinnati, Ohio, at 513-777-6889 or online at a href=”http://lam.uc.edu http://lam.uc.edu end
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Jan Hawkins is a freelance health care journalist residing in Kentucky.