A rare disease in which there appear cysts and other growths in the lungs, kidneys, and lymphatic system is called lymphangioleiomyomatosis (LAM). While the primary symptom is dyspnea (shortness of breath), it may also cause other symptoms. This condition occurs due to certain genetic changes (mutations) and mostly affects women. Usually, it is diagnosed between the ages of 20 and 40, or between puberty and menopause. That’s why healthcare professionals think Estrogen or having a uterus could play a role.
Generally, LAM occurs rarely, and it affects fewer than 1 in 140,000 women. Furthermore, between 30% and 80% of women with tuberous sclerosis also have LAM.
Types of LAM
Physicians have divided this condition into 2 categories. These include:
- TSC-LAM – In some cases, females with a genetic disorder called tuberous sclerosis also develop LAM.
- Sporadic LAM – This type is caused by an abnormal gene that develops randomly during life. Moreover, this abnormal gene cannot be passed to your biological children.
Symptoms
People who develop LAM usually experience the following symptoms. Examples include:
- Wheezing
- Trouble breathing
- Chest pain
- Cough
- Coughing up blood or chyle (lymph from the digestive system)
Immediately contact your healthcare professional if any of the previous symptoms occur. Otherwise, it may lead to serious complications.
Causes and Risk Factors
Typically, LAM occurs due to a mutation in two genes, including TSC1 and TSC2. In normal circumstances, these genes are tumor suppressor genes that keep cells from multiplying without control. Mutations in one of these genes often cause cysts in the lungs (pulmonary lymphangioleiomyomatosis), kidney tumors (angiomyolipomas), and tumors in the lymphatic system.
While anyone can develop this condition, there are some factors that could increase the risk. Check some of them below:
- Tuberous sclerosis complex – Approximately 30% of women with this disorder will also develop LAM. That’s why they should be regularly screened for LAM.
- Environmental and secondary factors – These include lack of physical activity, lung infections, smoking, and others.
- Hormone replacement therapy
- Fertility treatments
- Pregnancy
How Do You Get LAM?
While the abnormal genes that cause LAM can be inherited from one of the biological parents, they may also appear randomly during pregnancy. Healthcare professionals do not fully understand what exactly causes these mutations in the TSC1 and TSC2 genes. Commonly, people who inherit mutated TSC1 and TSC2 genes develop tuberous sclerosis.
What Are The Possible Complications of LAM?
Those who develop LAM may also experience some complications (the most common of which is pneumothorax), especially if the condition is not managed properly. Check some examples below:
- Lymphatic system blockages
- Pleural effusion (fluid buildup around the lungs)
- Chylothorax (chyle around the lungs)
- Respiratory failure
- Hemoptysis – This is a rupture of small blood vessels within the lung cysts.
- Angiomyolipomas (AMLs) – About 50% of people with LAM develop benign (noncancerous) tumors that are made up of fat, smooth muscles, and blood vessels. While most of the time they are asymptomatic, in more severe cases, they may lead to an increased risk of aneurysms and acute internal bleeding.
- Osteoporosis (brittle bones)
- Pregnancy complications
In some cases, doctors may recommend some options to reduce the risk or even prevent the previous complications.
Diagnosis
Typically, the diagnosis starts with a physical examination in which a doctor checks for irregularities linked to LAM. Healthcare professionals may also ask some questions about the symptoms and medical history to get more clues about your condition. Sometimes, it is difficult to diagnose LAM because the symptoms it causes resemble other lung conditions. To exclude or confirm LAM, doctors often perform the following tests and procedures. Examples include:
- Lung function tests
- Pulse oximetry (blood oxygen level tests)
- Imaging tests – The following tests are used to get detailed images of the lungs and tissues that surround them. Physicians often perform CT (computerized tomography) scans, MRI (magnetic resonance imaging) scans, HRCT (high-resolution computed tomography) scans, and others.
- VEGF-D test – Almost every time, doctors perform blood tests to check for infections and the function of organs. These blood tests are also used to measure the levels of a protein called VEGF-D (vascular endothelial growth factor-D). Most people who suffer from LAM have an increased level of VEGF-D.
- Lung biopsy – During this procedure, doctors will perform a bronchoscopy or video-assisted thoracic surgery (VATS) to take a small sample of the affected lung for testing.
Treatment
Unfortunately, it is not possible to cure this condition. That’s why the treatment goal is to ease the symptoms, prevent life-threatening complications, and improve your quality of life. While the primary treatment is a medicine (Sirolimus) that can stabilize LAM and prevent it from getting worse, it may cause serious adverse reactions. Some of them are severe kidney damage and serious infections. However, doctors may recommend additional treatments to control this disorder. For example:
- Oxygen therapy
- Lung transplant
- Pulmonary rehabilitation
- Inhaled bronchodilators
Frequently Asked Questions
Is lymphangioleiomyomatosis a type of cancer?
While it is not considered a type of cancer, in some cases, it acts like a metastatic cancer. For instance, the cells that begin to develop in an unknown part of the body travel through blood vessels and the lymphatic system to the kidneys and lungs. Sometimes, it is called benign cell metastasis.
What is the life expectancy of a person with LAM?
Approximately 60% of people with LAM live 20 years or more after diagnosis. After this period, they may need a lung transplant. Unfortunately, the condition may return even after a successful lung transplant because the abnormal cells start in another part of the body. In addition, about 90% of people with LAM are alive 10 years after diagnosis.
When should I go to the ER?
Immediately call 911 or go to the nearest emergency room (ER) if any of the following symptoms occur. Examples include:
- Trouble breathing
- Chest pain
- Coughing up blood
- Cyanosis (bluish skin, lips, or nails)
Can lymphangioleiomyomatosis (LAM) be prevented?
Unfortunately, there is no known way to prevent LAM because it is caused by mutations in the TSC1 or TSC2 genes. However, avoiding smoking, staying physically active, treating lung infections promptly, and attending regular follow-up appointments may help reduce the risk of complications and slow disease progression.
Does LAM always get worse over time?
Not always. The progression of LAM varies from person to person. Some people experience a slow decline in lung function over many years, while others develop symptoms more rapidly. Early diagnosis, regular monitoring, and treatment with medications such as Sirolimus can help stabilize lung function in many patients.
Can women with LAM become pregnant?
Yes, but pregnancy in women with LAM is considered high risk. Pregnancy may increase the likelihood of complications such as pneumothorax (collapsed lung), worsening breathing problems, and chylothorax. Women with LAM who are considering pregnancy should discuss the potential risks with their healthcare provider before conceiving.
How often should people with LAM have follow-up appointments?
The frequency of follow-up visits depends on the severity of the condition and how quickly it is progressing. Most people with LAM require regular lung function tests, imaging studies, and clinical evaluations every 6 to 12 months, although some may need more frequent monitoring if symptoms worsen.
Can exercise help people with LAM?
Yes. While strenuous exercise may not be appropriate for everyone, regular low- to moderate-intensity physical activity, especially through a supervised pulmonary rehabilitation program, can improve endurance, reduce shortness of breath, and enhance overall quality of life. Patients should consult their healthcare provider before starting a new exercise routine.
Does LAM affect both lungs?
In most cases, yes. LAM typically causes multiple cysts to develop throughout both lungs rather than affecting only one lung. As the disease progresses, these cysts can interfere with normal lung function and increase the risk of complications such as collapsed lungs and respiratory failure.
Is LAM considered a rare disease?
Yes. Lymphangioleiomyomatosis is classified as a rare disease. It affects less than 1 in 140,000 women worldwide and occurs only very rarely in men, usually in those with tuberous sclerosis complex. Because it is uncommon and shares symptoms with other lung diseases, diagnosis is sometimes delayed. Ask your healthcare provider if you have any other questions.
