Lymphangioleiomyomatosis

Last Updated 05/07/2020

Authors:Lakshmy Ayyar, MD; Debasree Banerjee, MD, MS; Leena Pawar, MBBS

About Lymphangioleiomyomatosis

Key facts about Lymphangioleiomyomatosis
  • Lymphangioleiomyomatosis (LAM) is a rare disease.
  • It affects women in their 30s and 40s.
  • No behavioral conditions or risk factors are known to cause LAM.
  • Although female hormones and pregnancy can aggravate LAM, they aren’t considered a cause or risk factor for LAM.

LAM is the result of an abnormal growth of smooth muscle cells. The signs of LAM in the body include thickening of the areas around:

  • Blood vessels;
  • Breathing tubes (called bronchioles);
  • Lymph channels; and
  • Lining of the lung

LAM is not contagious. When associated with tuberous sclerosis complex (TSC), LAM is an inherited disorder, meaning that at least 1 parent passes on the gene for it to his or her daughter. When LAM occurs alone, it’s related to the changes of certain genes that are an important part of cell growth. In rare cases, these changes can happen at random (in approximately 3 to 7 out of 1 million women).

How LAM affects your body

LAM primarily affects your lungs and your breathing. Occasionally it’s associated with another disorder called TSC. When LAM is part of TSC, it’s more common to have kidney tumors called angiomyolipomas. In this case, it may involve the brain, and you may need to be monitored because it may cause seizure.

How serious is LAM?

LAM can shorten your lifespan. However, experience over the past few decades has shown that people with LAM are living longer than ever before. It’s possible that LAM can make you lose your lung function. If this happens, you may need a lung transplant.

The 10-year survival of people living with this disease is 80% to 90%. A median survival from start of symptoms is about 30 years.

Symptoms of LAM

LAM can have a variety of symptoms. In addition, it can affect multiple organs and appear differently in different people. As a result, it can be difficult to diagnose.

A diagnosis of LAM is strongly suspected when a young woman has any of the following symptoms:

The most common presentation is a pneumothorax, which occurs when the lung “pops” and air builds up around the lung, causing it to collapse. In patients with LAM, the pneumothorax is caused by the bursting of cysts that form in the lungs. Pneumothorax causes sharp chest pains and difficulty breathing. LAM can also be associated with buildup of a milky fluid around the lungs called chyle.

Contact your health care provider if you have these symptoms.

What causes LAM?

LAM is caused by abnormal growth of the smooth muscle cells in the lungs. The triggers for this process are not well understood. However, hormone replacement therapy can aggravate the process.

What are risk factors for LAM?

There are no known risk factors for LAM. It can be a result of a random genetic mutation, or it can develop as linked with a genetic disorder, such as TSC.

Diagnosing LAM

Once you’ve been diagnosed with LAM, the disease process will continue: There is no cure. Eventually, the lungs will be replaced by cysts (holes), leading to progressive lung failure. At that time, a lung transplant is the only option available.

Expect a close working relationship with your health care providers and specialists. You will have frequent follow-up appointments. Various other specialists may be involved at different stages of this disease.

In the early stages of LAM, you can usually do your normal daily activities, such as attending school, going to work, and doing common physical activities such as walking up stairs. In the later stages of LAM, you may find it harder to be active.

Once you are diagnosed with LAM, discuss life planning, pregnancy, and birth control with your health care provider.

How LAM is diagnosed

Your provider will order a computed tomography (CT) scan of your lungs to identify cysts. You may also have an ultrasound to determine the presence of any other tumors.

Your provider may also order laboratory tests and lung function tests. The following methods can determine a diagnosis:

  • Open-lung biopsy. In this procedure, a doctor removes a sample of lung tissue to look at under a microscope.
  • Bronchoscopy. A doctor inserts a flexible tube with a video camera called a bronchoscope into your airways through your nose or mouth to inspect your lungs.
When should you see your health care provider?

See your health care provider any time you have new, unfamiliar, or worsening symptoms.

With LAM, you have a greater risk of tumors in your abdominal organs, most commonly in the kidney. As these tumors grow, they can cause internal bleeding that could be fatal. They can also cause symptoms such as abdominal pain and dizziness.

Seek prompt medical attention if you experience worsening of your baseline breathing. This could be the result of:

  • A lung collapse;
  • Fluid collection around the lung; or
  • Blocks of the lymphatic system, which can cause fluid overload inside the lung.

Your provider can then decide if you can be treated at home or need to be in the hospital.

Treating LAM

Currently, no treatment is available to stop the growth of the cysts that occur in LAM. Most treatments for LAM ease symptoms and prevent complications. The options include:

  • Oxygen therapy;
  • Lung rehabilitation;
  • Removal of air or fluid from lungs or the abdomen to help you breathe better;
  • Watching for and treatment of weak bones (called osteoporosis);
  • Standard vaccinations to prevent lung infections; and
  • Inhalers to help open airways and improve breathing.

Lung transplant may be considered in advanced cases to improve lung function and quality of life.

Managing LAM

LAM is a chronic disease. This means that you may have symptoms or require treatment for your lifetime.

There are many ways to manage, or suppress, your symptoms. However, all medications and treatments have side effects. Talk to your health care provider about the best way to manage your symptoms.

Resources

It may be helpful to connect with others who have LAM. Visit the LAM Foundation for more information about research, support groups, treatment guidelines, and living with LAM.

Questions to ask your health care provider

Making notes before your visit and taking along a trusted family member or friend can help you through the first appointment with your provider.

Here are some questions to ask during your appointment:

  • How do I know that I don’t have the genetic type of LAM, TSC-LAM?
  • At what point and how often will I need imaging to assess for tumors in other organs?
  • What are the signs of a lung collapse?
  • What do I do if my breathing gets worse?
  • At what point will I need oxygen therapy?
  • When should I consider starting pulmonary rehabilitation?
  • When will you start me on treatment to control the disease?
  • Will I ever be able to get pregnant? Will my children also be affected?
  • What form of birth control is safe?
  • At what point should we be talking about lung transplant, and what should I expect?
  • Does LAM come back in the transplanted lung?
  • Is air travel safe for me?