16022 Lymphangioleiomyomatosis Lam

Overview

Lymphangioleiomyomatosis, often called LAM, is a rare lung disease. In LAM, certain cells grow out of control in the lungs, forming small air-filled holes (cysts) and damaging healthy lung tissue. Over time, this can make it harder to breathe. LAM can also affect the kidneys and lymph system.

No, LAM is very rare. It is estimated to affect about 3 to 5 in every 1 million women. Because it is rare, it can be missed or mistaken for other lung conditions.

LAM almost always affects women, typically between the ages of 30 and 45. It can also occur in people who have a rare genetic condition called tuberous sclerosis complex (TSC). LAM is extremely rare in men.

Symptoms

Common symptoms

• Shortness of breath, especially with activity
• Cough that does not go away
• Tiredness (fatigue)
• Chest pain or discomfort
• Coughing up blood or pink sputum
• One or more collapsed lungs (pneumothorax)

Symptoms in children

• LAM is extremely rare in children. If it does occur, symptoms are similar to those in adults and may include breathlessness, cough, and tiredness. Children with tuberous sclerosis complex may be monitored for LAM as part of their regular care.

Symptoms in older adults

• Symptoms in older adults may be similar to other lung problems such as asthma or COPD. Breathlessness and fatigue can be wrongly blamed on aging, so it is important to tell your doctor about these symptoms.

Causes

Main causes

• LAM is caused by mutations (changes) in the TSC1 or TSC2 genes. These genes normally help stop abnormal cell growth, but when they are changed, cells can grow too much in the lungs and other organs.
• Most cases of LAM are not inherited and happen by chance (called sporadic LAM).
• Some people have LAM because they already have tuberous sclerosis complex, a genetic syndrome that can affect the skin, brain, kidneys, and lungs.

Risk factors

• Being female, especially between ages 30 and 45
• Having tuberous sclerosis complex (TSC)
• Having certain changes in the TSC1 or TSC2 genes

When to see a doctor

See a doctor urgently if:

• Sudden difficulty breathing
• Chest pain that is new, severe, or lasting
• Coughing up blood
• Fever with a new cough or worse breathlessness

Book a routine appointment if:

• A cough that lasts more than a few weeks
• Unexplained shortness of breath with everyday activities
• Repeated chest infections that do not clear up
• Sudden chest pain episodes that come and go

Diagnosis

To diagnose LAM, your doctor will ask about your symptoms and medical history and listen to your lungs. If LAM is suspected, you will be referred to a lung specialist (pulmonologist). A combination of imaging scans, blood tests, and sometimes a lung biopsy can confirm the diagnosis.

Tests that may be done

• Chest CT scan (a detailed scan that shows cysts in the lungs)
• Lung function tests (blowing into a tube to measure how well your lungs work)
• Blood test to check for a protein called VEGF-D, which is often high in LAM
• Ultrasound or CT scan of the kidneys to look for benign kidney growths (called angiomyolipomas)
• Sometimes a lung biopsy (a small sample of lung tissue taken to look at under a microscope)

What to expect at your appointment

If you are diagnosed with LAM, a specialist team will plan your care with you. You may need regular check-ups, lung tests, and scans to monitor how you are doing. Many people with LAM continue to work, stay active, and live full lives with the right support.

Treatment

There is no cure for LAM yet, but there are treatments to slow the disease, control symptoms, and improve quality of life. Your treatment will be personalised to your needs and reviewed regularly.

Self-care at home

• Stop smoking and avoid inhaling smoke or other lung irritants
• Stay as active as you comfortably can, and rest when needed
• Pace yourself through the day to manage fatigue
• Ask your doctor about flu and pneumonia vaccines to help prevent infections
• Keep a symptom diary to share with your healthcare team

Medical treatments

Some people may be offered medicines that help block the abnormal growth of LAM cells. Others may need oxygen therapy to help with breathing. In advanced cases, a lung transplant may be considered. Your doctor will explain which options are suitable for you — never start or change treatment without medical advice.

When is surgery considered?

Surgery is sometimes needed. For a collapsed lung, a procedure called pleurodesis may be done to stick the lung to the chest wall and prevent future collapses. In severe LAM, a lung transplant can offer a chance for much better breathing and a better quality of life.

Living with this condition

Living with LAM means learning to manage breathlessness and pace your energy. You may need to plan rest during the day, avoid extreme cold or very poor air quality, and use breathing techniques taught by your doctor or physiotherapist.

Lifestyle tips

• Join a LAM patient support group, online or in person
• Practise gentle breathing exercises to reduce stress and improve comfort
• Monitor new or worsening symptoms and report them to your team
• If you use oxygen, make a portable plan so you can go out safely

Diet and exercise

A balanced diet with plenty of fruits, vegetables, and whole grains helps keep your immune system strong. Talk to your doctor or a physiotherapist about safe exercise. Many people with LAM find walking, swimming, or gentle yoga helpful, as long as you listen to your body and stay within your limits.

Mental health and emotional wellbeing

Living with a rare lung condition can bring worry, sadness, or anxiety. These feelings are completely normal. Speak to your healthcare team about counselling or local support. If you ever feel in crisis, please reach out to a local crisis phone line, your doctor, or go to your nearest emergency department — you do not have to face it alone.

Prevention

LAM cannot be prevented because it is caused by a genetic change that either happens by chance or is part of a genetic condition. However, early diagnosis and good care can help prevent complications and keep your lungs healthier for longer.

Vaccines

It is important to stay up to date with routine vaccinations, especially for flu and pneumonia, as lung infections can make breathlessness worse. Talk to your doctor about which vaccines are recommended for you.

Screening programmes

If you have tuberous sclerosis complex, your doctor may suggest regular scans of your lungs and kidneys to look for signs of LAM or kidney growths. For people without symptoms, routine screening for LAM is not usually needed.

Complications

If left untreated

• Progressive loss of lung function, making breathing harder over time
• Repeated lung collapses (pneumothorax), which can be painful and dangerous
• Fluid collecting around the lungs (pleural effusion)
• Benign kidney tumours (angiomyolipomas) that can occasionally bleed

Long-term outlook

LAM is a serious condition, but the outlook is brighter than it used to be. Many people live for decades after diagnosis, especially with the help of modern treatments and specialist care. Research continues to improve how LAM is managed, and there is real reason for hope.

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