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Lung diseases

Lymphangioleiomyomatosis (LAM)

A rare lung disease seen almost only in women. Cysts form in the lungs. Shortness of breath and collapsed lung can occur.

Not part of the panel of Türkiye's National Newborn Screening Programme (heel-prick test). Source

Orphanet has a guideline for emergency doctors for this disease (language: French, Spanish). See on Orphanet

Prepare an emergency card

This page is translated from the Turkish original.

This disease is followed through the “Lung diseases” group.

Understanding the disease

This section has not yet been reviewed by a physician. It summarises patient information from sources such as MedlinePlus, Orphanet and the NHS in plain language. The disease can differ from person to person; talk to your doctor about diagnosis and treatment.

What happens in this disease?

Abnormal cells that look like smooth muscle multiply in the lungs. These are called LAM cells. These cells form air-filled cysts in the lungs. The lymph vessels and kidneys can also be affected. The disease usually begins in a woman's 30s.

Which symptoms can occur?

Symptoms vary from person to person.

  • Shortness of breath on exertion (most common)
  • Cough, chest pain, sometimes coughing up blood
  • Repeated collapsed lung, called pneumothorax (in about half)
  • Milky fluid building up between the linings of the lung (sometimes)
  • A benign kidney tumor, called angiomyolipoma
  • Pain in the side or blood in the urine

How is it diagnosed?

A high-resolution CT scan of the lungs shows the typical cysts. A substance called VEGF-D is measured in the blood. If the CT scan and this test match, a biopsy is usually not needed. Breathing tests are used for follow-up.

Treatment and care

There is an approved medicine specific to LAM. This medicine can slow the loss of lung function. For a collapsed lung, a chest tube and procedures to prevent it from happening again are used. When needed, oxygen, vaccines and pulmonary rehabilitation are used. It is recommended to avoid medicines that contain estrogen. In severe cases, a lung transplant may be considered. The doctor who follows the disease decides which treatment is suitable.

For the family: inheritance and genetic counselling

LAM that occurs on its own is not inherited. The gene change happens by itself during life. LAM can also occur together with an inherited disease called tuberous sclerosis. In that case, inheritance is dominant. Genetic counselling helps to tell these apart.

Source: MedlinePlus Genetics: Lymphangioleiomyomatosis · NORD: Lymphangioleiomyomatosis · Orphanet: Lymphangioleiomyomatosis (ORPHA:538)

Key facts

How common is it?
New cases per year: <1 per 1 000 000 (Worldwide) · Prevalence: 1-9 per 1 000 000 (Worldwide)
How is it inherited?
Not inherited
When does it usually start?
Adulthood
Gene(s) involved
TSC1, TSC2

These facts are taken from Orphanet and MedlinePlus records (last checked: October 7, 2026). Frequency values are approximate ranges.

You are not alone: patient associations in Türkiye

Non-profit patient and family organizations in Türkiye working on this disease or disease group. Links are for information; Doktorclub is not affiliated with these organizations and does not endorse them.

We could not find a patient association specific to this disease.

For all rare diseases: Nadir Hastalıklar Federasyonu

Guides related to this disease

  • Home care and medical devices · Home health service, oxygen and respiratory device reports, wheelchairs and orthoses, power outage notification, emergency plan.

Support and help

Doktorclub does not diagnose, recommend treatments or refer you to hospitals or doctors. These pages are meant to help you talk with your doctor.

News about LAM

Clinical trials (ClinicalTrials.gov)

A clinical trial is a regulated study that tests whether a new treatment is safe and whether it works, in patients who volunteer. Most trials look for a certain age, genetic change and health condition. Taking part is voluntary.

This list is not a treatment recommendation. Treatments tested in phase 1–3 trials are investigational (experimental): their efficacy and safety have not yet been proven and they are not approved treatments. Taking part depends on each trial’s criteria and a physician’s assessment; the first step is to talk to the doctor who manages your care.

Questions you can ask your doctor

  • Could this trial be suitable for us?
  • If we take part, how would current treatment and check-ups be affected?
  • Where does the trial take place, and how are travel and accommodation handled?
  • What happens if we want to leave the trial?

ClinicalTrials.gov lists 4 active interventional studies for this disease. 2 are recruiting now; none has a site in Türkiye. Last checked: October 7, 2026.

Selected records (studies with a site in Türkiye first):

See all studies on ClinicalTrials.gov · Joining clinical trials

Lung diseases: other news

Medical codes (for talking with your doctor and finding sources)

These codes identify the disease in international classifications and databases. They can help when you talk with your doctor or look for reliable sources.

Orphanet code: ORPHA:538 · ICD-11 CB07

Codes checked against WHO ICD-11 and Orphanet on October 7, 2026.

This page provides general information and does not replace diagnosis or treatment. Talk to your doctor about symptoms, diagnosis and treatment.

The information on these pages is for general information only and does not replace medical advice. Talk to your doctor about diagnosis and treatment decisions. In an emergency in Türkiye, call 112.

Every update is based on an open source and labeled with its level of evidence. No advertising and no drug brand names. Our scientific principles

This page was translated from Turkish by the Doktorclub editorial team.