What is LAM lung disease

Lymphangioleiomyomatosis (LAM)

LAM is characterized by lung cysts (air-filled blisters that gradually destroy the lungs), changes in the lymphatic system and kidney tumors. It is a progressive disease, which means that symptoms generally get worse over time. LAM develops differently in each person. In some women, the disease can be fairly easy, so they do very well for decades and do not need any treatment. However, others have lung function that deteriorates over time and may require treatment with oxygen, drugs, and / or a lung transplant.

“LAM doesn't come in the same form in everyone; some women have a slower progression than others so do not compare yourself to others as it can cause unnecessary stress. ”Iris, Italy

One can get LAM without another disease. This is called sporadic LAM. Or you get LAM together with another disease called tuberous sclerosis. The causes of LAM are not yet fully understood.

Sporadic LAM

The sporadic LAM is not inherited and is not passed on to children. One of two proteins (tuberin and hamartin) is abnormal in the LAM tissue. This is due to mutations (changes) in the genes that are responsible for these proteins. The proteins act as a brake on the growth of LAM cells, and when abnormal these cells overgrowth. Why this happens is not clear, but research right now is mainly focused on stopping these cells from growing.

Tuberous sclerosis and LAM

Tuberous sclerosis is a hereditary disease. People with tuberous sclerosis have the same gene mutation in all or almost all of their cells, and therefore there is a high chance they will develop LAM. By the age of 40, about 80% of women with tuberous sclerosis will develop LAM, although they may not have many symptoms. Estrogen plays a certain role in LAM. Although it does not appear to be the direct cause of LAM, higher levels of estrogen can accelerate the disease. The average age of onset of LAM symptoms is about 35 years; but as doctors make progress in identifying the condition, it will also be diagnosed earlier. LAM very rarely affects children.

What are the main symptoms of LAM?

Symptoms vary, but the two most common are shortness of breath and pneumothorax (collapsed lungs). A pneumothorax is a collapse of one or both lungs caused by the entry of air into the pleural cavity. The pleural cavity is the space between the lungs and the chest wall.

The less common symptoms include coughing, coughing up blood, kidney tumors (angiomyolipomas), which occur in around half of all cases, and chylothorax (here, lymph fluid that forms in the digestive tract, the so-called chyle or milky sap, collects in the thin cavity, the surrounds the lungs and prevents them from expanding properly while breathing). LAM progresses differently in people, but there are ways to manage symptoms.

How is LAM diagnosed?

LAM can be difficult to diagnose because many symptoms are similar to other lung conditions (such as asthma, chronic obstructive pulmonary disease (COPD), and bronchitis). It is very important that a correct diagnosis is made. The guidelines of the European Respiratory Society (ERS) state that for a diagnosis of LAM the following must be present:

  • a computed tomography (CT scan - your body is x-rayed from numerous angles, and a computer then compiles a detailed picture) that detects lung cysts, as well
  • another evidence, e.g. B. tuberous sclerosis, a kidney tumor, or chylothorax.

A blood test that shows a high level of a protein called vascular endothelial growth factor D (VEGF-D) in the blood can also help diagnose LAM. In very rare cases when a combination of the above symptoms cannot be diagnosed, a biopsy may need to be performed. Tissue samples are taken from your lungs and examined. Since LAM is such a rare disease, it is important to get the opinion of a specialist as early as possible and to discuss your individual case with them.

"Take the time to let the diagnosis sink in as it can be very confusing at first." Emer, Ireland

“A diagnosis also hits the family of the LAM patient very hard, and each one may be careful to protect the other. It can help to speak to an outsider. ”Gill, United Kingdom

“It is very important to raise awareness of LAM among general practitioners as they are often the first point of contact.” Iris, Italy

Although some significant advances have been made in LAM research, there is currently no cure. Women with LAM have a tendency to lose their lung function more and more. This development is usually slow, but it can happen more quickly in some patients. Most women with LAM live decades after the onset of symptoms, but this can vary. It is therefore important that you discuss your own case with a specialist.

“There are much better diagnostic methods, better treatments, and more knowledge about LAM among doctors and health workers these days. And I am living proof that you can live with this disease for many years. I was diagnosed with the condition when I was 30 and now I am 52 years old. ”Lisbeth, Norway

What kind of treatment is there?

You will usually be watched to see if your disease is stable or getting worse so that the best care and treatment can be offered to you.

Treatment of Symptoms

You can get supportive care first. This could include using inhalers (bronchodilators) to make breathing easier. This may be the only treatment some women need. Some women benefit from supplemental oxygen to help with breathlessness.

Pleurodesis or pleurectomy (for lung collapse)

Some LAM patients will have more than one pneumothorax (collapsed lung) in their lifetime and the following procedures may be recommended to prevent recurrence. This can significantly improve the quality of life of LAM patients.

  • Pleurodesis is a procedure in which the pleura are attached to the pleura to prevent the lungs from collapsing again.
  • Pleurectomy is a procedure in which the surgeon removes the thin skin between the lungs and the chest wall (pleura) so that the lungs lie against the chest wall, thus preventing further lung collapse.

Medication

The main treatment for LAM is a drug called sirolimus (also called rapamycin). This drug helps stop the loss of lung function in many women. However, not every patient needs to be treated with sirolimus. Others may not benefit from this drug or experience side effects.

Lung transplant

A lung transplant may be an option for some women with advanced LAM when there are no other treatment options. Lung transplants were successfully carried out in many LAM patients, thereby improving their quality of life.

You may be able to manage the common symptoms of LAM better by:

  • Maintain a healthy weight
  • Do not smoke
  • Stay active (oxygen supplementation may help you exercise more effectively)
  • Take part in a pulmonary rehabilitation program to help with your shortness of breath
  • Use inhalers when your airways are narrowed
  • Get vaccinated against the flu and pneumococci
  • Do not take a combination oral contraceptive pill (containing estrogen and progesterone)
  • Discuss pregnancy with your specialist doctor, as symptoms can worsen during pregnancy due to the higher levels of estrogen
  • Do not use hormone replacement therapy after menopause.

Your lung function should be checked regularly for changes. If your lung function worsens, your doctor may recommend another treatment.

“Stay as healthy as possible and share your experiences with other women with LAM through patient organizations and support groups.” Iris, Italy

“Exercise really helps me, both physically and mentally. I've started taking oxygen with me when I go on the treadmill. ”Gill, United Kingdom

"I try to find a balance in doing things slowly - and still have a real life." Lisbeth, Norway

Research and hopes for the future

There is a lot of research going on now and the main areas of research are focused on:

Better tools to predict how LAM will evolve - So doctors will know whether a patient is likely to remain stable or need treatment sooner rather than later. Various studies look for biomarkers (a biological marker in the blood that suggests that a person has a certain disease) to get information about how the disease is progressing.

Find a cure - Sirolimus prevents LAM from getting worse, but only works for as long as you are taking the drug. If you stop taking the drug, your lung function will again deteriorate. New treatments are being explored, including new drugs, as well as research combining sirolimus with other drugs to see if LAM cells can be killed instead of just preventing them from growing.

Regenerative treatments - Investigations into regenerative treatments aim to repair the damaged lung tissue. These studies are still at a very early stage and significant results are still a long way off.

“It is very important to promote studies on new potential medicines at European level and to make information about these new therapies available to patients. This could speed up the process of finding a treatment that would lead to healing. As LAM is a rare disease, further efforts are needed from the LAM community and physicians. ”Iris, Italy

Everyday life and support

Because of the advances in LAM research, living with this condition is very different from how it used to be. Since life with LAM is completely different for every woman, you should not compare yourself to others. Many women are desperate and fearful when they receive their diagnosis. It can be helpful to connect with others who have also been diagnosed with LAM to talk to each other and share information and practical tips about what can help.

“I have found that tai chi and yoga can help reduce my anxiety.” Emer, Ireland

“Never give up and never lose your trust. Stay positive! ”Lisbeth, Norway“ It can be lonely at times when you have little energy left to maintain social contacts. Then it's good to be able to use social media (like Facebook) to keep in touch with friends and family. ”Lisbeth, Norway

"Try not to search the internet, instead contact a local support group in your country." Emer, Ireland

Further reading LAM website of the European Lung Foundation: www.europeanlung.org/lam

  • Make use of the information that has been created together with LAM-experienced people and experts in the field.
  • Find LAM support networks, centers and medical specialists in Europe
  • Read case studies of women with LAM

European Lung Foundation website: www.europeanlung.org Access more information on lung health and information sheets for LAM patients, including:

These documents were prepared as part of the LAM Patient Priority Project with the help of Professor Simon Johnson, Dr. Sergio Harari, Dr. Marcel Veltkamp, ​​Elma Zwanenburg and members of the ELF advisory group for LAM patients.