Assessment
Questionnaire

Have a symptom?
See what questions
a doctor would ask.
 
Articles » NHLBI, Facts About Lymphangioleiomyomatosis (LAM): NHLBI
 

NHLBI, Facts About Lymphangioleiomyomatosis (LAM): NHLBI

Article title: NHLBI, Facts About Lymphangioleiomyomatosis (LAM): NHLBI

Conditions: Lymphangioleiomyomatosis, Alveoli, Chest Cavity, Hemoptysis, Lymph

Source: NHLBI


Facts About Lymphangioleiomyomatosis (LAM)

Table of Contents

What Is Pulmonary Lymphangioleiomyomatosis (LAM)?
How Common Is LAM?
What Are The Symptoms of Lymphangioleiomyomatosis?
What Is The Course of Lymphangioleiomyomatosis?
How Is It Diagnosed?
Chest X-Ray
Pulmonary Function Test
Blood Tests
Computed Tomography
Lung Biopsy
How Is LAM Treated?
What Is The Effect Of LAM On The Patient's Lifestyle?
Can A Patient Participate In LAM Research At NHLBI?
Glossary
Contact


WHAT IS PULMONARY LYMPHANGIOLEIOMYOMATOSIS (LAM)?

Lymphangioleiomyomatosis (LAM) is a rare lung disease that was first described in the medical literature by von Stossel in 1937. The disease is characterized by an unusual type of muscle cell that invades the tissue of the lungs, including the airways, and blood and lymph vessels. Over time, these muscle cells form into bundles and grow into the walls of the airways, and blood and lymph vessels, causing them to become obstructed.

Although these cells are not considered cancerous, they act somewhat like cancer cells in that they grow uncontrollably throughout the lung. Over time, the muscle cells block the flow of air, blood, and lymph to and from the lungs, preventing the lungs from providing oxygen to the rest of the body.

Kidney tumors that are often asymptomatic may also be found in patients with LAM.

Lymphangioleiomyomatosis is pronounced lim - fan' je - o - li' o - mi' o - ma - to' sis. Lymph and angio refer to the lymph and blood vessels. Leiomyomatosis refers to the formation of the bundles of the unusual muscle cells.

The cause of LAM is not known.

Back to Table of Contents

HOW COMMON IS LAM?

LAM affects almost exclusively women of childbearing age, although several cases have been reported in which the disease was thought to have developed after menopause. The international literature also includes reports of a few cases in men.

The precise number of people who have LAM is not known. It has been estimated that there may be up to several hundred women in the United States with the disease.

It also has been suggested that LAM has become more common during the past 5 to 10 years, although it may be that doctors are doing a better job of diagnosing it.

Back to Table of Contents

WHAT ARE THE SYMPTOMS OF LYMPHANGIOLEIOMYOMATOSIS?

A common symptom of LAM is shortness of breath (dyspnea) with physical activity. In the early stages of disease, the person with LAM may experience shortness of breath only during strenuous exercise, but as the disease advances, there may be shortness of breath even at rest. Another common symptom is chest pain, and occasionally patients cough up small amounts of blood.

The symptoms associated with LAM are caused by the excessive growth of the muscle cells around the airways, and blood and lymph vessels. The excess muscle cells can block the airways, trapping air in the smallest air compartments in the lung (alveoli) and causing the person with LAM to have difficulty moving air out of the lungs. This results in a breakdown of the lung tissue and the formation of small cysts (air-filled cavities).

Cysts near or on the surface of the lung (blebs) can rupture and, as air leaks from the lung into the chest cavity (pneumothorax), the lung or a part of the lung can collapse, causing pain. If the amount of air that leaks out is small, the lung may seal over the space and re-expand itself. If air continues to leak into the chest cavity, however, it may be necessary to re-expand the collapsed portion of the lung by removing the air that has leaked into the chest cavity. This is an in-patient procedure, done using a tube inserted through the chest wall into the chest cavity.

The excessive muscle growth may also block blood vessels in the lung, causing them to become distended with blood and even to rupture. This can result in the patient coughing up blood-stained sputum or blood (hemoptysis).

Obstruction of the lymphatic vessels by the excess muscle growth can lead to leakage of fluid into the chest cavity (pleural effusion). The fluid may be straw-colored (lymph), or fat-containing, milky white (chyle), or pinkish-red if it contains blood. A physician can remove some of this fluid with a needle and syringe to determine its composition and origin. If large amounts of this fluid accumulate in the chest cavity, it may have to be removed through a tube surgically inserted into the chest.

It is estimated that 30 to 50 percent of LAM patients will develop leakage of air into the chest cavity (pneumothorax), and up to 80 percent will have leakage of fluid into the chest cavity (pleural effusions). Coughing up blood-stained sputum or blood (hemoptysis) occurs less frequently.

Back to Table of Contents

WHAT IS THE COURSE OF LYMPHANGIOLEIOMYOMATOSIS?

LAM is generally progressive, leading to increasingly impaired lung function. The rate of development can vary considerably among patients. As the disease advances, there is more extensive growth of muscle cells throughout the lung and repeated leakage of fluid into the chest cavity (pleural effusions). As an increasing number of cysts are formed, the lung takes on a honeycomb appearance.

The survival time following the diagnosis of LAM is uncertain. It has been reported to be less than 10 years, but new reports show patients living more than 20 years after diagnosis. The reason for the apparently increased survival time is unknown.

Back to Table of Contents

HOW IS LYMPHANGIOLEIOMYOMATOSIS DIAGNOSED?

The diagnosis of LAM can be difficult because many of the early symptoms are similar to those of other lung diseases, such as asthma, emphysema, or bronchitis. Often the person with LAM first goes to the physician complaining of chest pain and shortness of breath that was caused by a pneumothorax.

Some patients first consult their physician because of shortness of breath upon exertion.

There are a number of tests the physician can do to confirm or rule out the existence of LAM.

  • Chest X-ray

This is a simple procedure that provides a picture of the lungs and other tissue in the chest. The chest x-ray is used to diagnose a pneumothorax or the presence of fluid in the chest cavity (pleural effusion).

Back to Table of Contents

  • Pulmonary Function Tests

The patient breathes through a mouthpiece into a machine (spirometer) that measures the volume of air in the lungs, the movement of air into and out of the lungs, and the movement of oxygen from the lungs into the blood.

Back to Table of Contents

  • Blood Tests

The patient's blood is analyzed to determine whether the lungs are providing an adequate supply of oxygen to the blood.

Back to Table of Contents

  • Computed Tomography (CT)

Computed tomography (CT) is the most definitive imaging test for diagnosing LAM.

The patient lies inside a long, cylindrical structure, and x-ray beams pass through the body from different angles, producing multiple images. A computer combines all of these images and provides a 3-dimensional picture of the inside of the lungs and chest. This is called a CT scan.

On a CT scan, the presence of thin-walled cysts spread relatively uniformly throughout the lungs usually means LAM.

Back to Table of Contents

  • Lung Biopsy

Although it is sometimes possible to diagnose LAM based on the above tests, the most definitive test for the diagnosis of LAM is an open lung biopsy. In this procedure, a few small pieces of lung tissue are removed through an incision made in the chest wall between the ribs.

Another procedure, thoracoscopy, is also being used in some patients to obtain lung tissue. In this procedure, tiny incisions are made in the chest wall, and a small lighted tube (endoscope) is inserted so that the interior of the lung can be viewed, and small pieces of tissue are removed.

Both procedures must be done in the hospital under general anesthesia. Another technique, called transbronchial biopsy, may also be used to obtain a small amount of lung tissue. A long, narrow, flexible, lighted tube (bronchoscope) is inserted down the windpipe (trachea), and into the lungs. Bits of lung tissue are sampled, using a tiny forceps. This procedure is usually done in a hospital on an outpatient basis under local anesthesia. It is less reliable than an open lung biopsy because the amount of tissue that can be sampled is sometimes inadequate for diagnostic studies.

After the lung tissue is removed, it is examined in a pathology laboratory for the presence of the abnormal muscle cells and cystic changes characteristic of LAM.

Back to Table of Contents

HOW IS LAM TREATED?

Because LAM affects almost exclusively women of childbearing age, physicians have thought that the hormone estrogen might be involved in the abnormal muscle cell growth that characterizes the disease, just as it is in the growth of smooth muscle in the uterus in a woman's childbearing years.

Although there is no evidence that there is a relationship between estrogen and LAM, the treatment of LAM has focused on reducing the production or effects of estrogen. Two treatments used are administration of medroxy-progesterone, a drug containing the hormone progesterone, or removal of the ovaries (oophorectomy). The response to treatment has been highly individual, and no therapy has been found to be effective for all LAM patients.

Oxygen therapy may be necessary if the disease continues to worsen and lung function is impaired.

For LAM patients with severe disease, lung transplantation is an established therapy. One year survival following transplant is approximately 70 percent, and 3-year survival is approximately 50 percent.

Back to Table of Contents

WHAT IS THE EFFECT OF LAM ON THE PATIENT'S LIFESTYLE?

In the early stages of the disease, most patients can go about their daily activities, including attending school, going to work, and performing common physical activities, such as walking up a hill. In more advanced stages, the patient may have very limited ability to move around and may require oxygen full-time.

Patients with LAM should follow the same healthy lifestyle recommended for the general population, including eating a healthy diet, getting as much exercise as they can, as well as plenty of rest, and, of course, not smoking. Traveling to remote areas where medical attention is not readily available or to high altitudes where the blebs can expand and rupture should be considered carefully before undertaken.

In patients with normal lung function, there is probably no increased risk associated with pregnancy. However, in patients with compromised lung function, pregnancy is not advised.

There do not appear to be complications associated with oral contraceptives, but this issue should be discussed with the patient's pulmonologist and gynecologist.

Back to Table of Contents

CAN A PATIENT PARTICIPATE IN LAM RESEARCH PROGRAMS AT THE NATIONAL HEART, LUNG, AND BLOOD INSTITUTE?

Some LAM patients may be eligible to participate in clinical studies at the Warren Grant Magnuson Clinical Center of the National Institutes of Health in Bethesda, Maryland. Participants must meet the specific study requirements.

Back to Table of Contents

GLOSSARY

Alveoli-Tiny sac-like air spaces in the lungs where transfer of carbon dioxide from blood into the lungs and oxygen from air into blood takes place.

Blebs-Cysts on or near the surface of the lungs.

Chest Cavity-Space in body surrounding the lungs.

Chyle-A milky fluid consisting of lymph and droplets of triglyceride fat that becomes mixed with the blood.

Dyspnea-Shortness of breath; difficult or labored breathing.

Hemoptysis-Coughing up blood or blood-stained sputum.

Lymph-A transparent, slightly yellow liquid found in the lymphatic vessels. Lymph is collected from tissue fluids throughout the body and returned to the blood via the lymphatic system.

Pleural effusion-Leakage of fluid into the chest cavity.

Back to Table of Contents

CONTACT

For more information, the patient's doctor should contact:

National Heart, Lung, and Blood Institute
Pulmonary-Critical Care Branch
Building 10, Room 6D03
10 Center Drive, MSC 1590
Bethesda, MD 20892-1590
Phone: 301-496-3632

Sources of additional information:
The LAM Foundation
10105 Beacon Hills Drive
Cincinnati, OH 45241
Phone: 513-777-6889

NHLBI Health Information Network
PO Box 30105
Bethesda, MD 20824-0105
Phone: 301-592-8573

Back to Table of Contents


U.S. DEPARTMENT OF HEALTH AND HUMAN SERVICES
Public Health Service
National Institutes of Health
National Heart, Lung, and Blood Institute
NIH Publication No. 96-3652
October 1995


Home Page     Lung Information for the General Public



Please send us your feedback, comments, and questions
by using the appropriate link on the page, Contact the NHLBI.

Note to users of screen readers and other assistive technologies: please report your problems here.
 

By using this site you agree to our Terms of Use. Information provided on this site is for informational purposes only; it is not intended as a substitute for advice from your own medical team. The information on this site is not to be used for diagnosing or treating any health concerns you may have - please contact your physician or health care professional for all your medical needs. Please see our Terms of Use.

Home | Symptoms | Diseases | Diagnosis | Videos | Tools | Forum | About Us | Terms of Use | Privacy Policy | Site Map | Advertise