Shall we talk about LAM, a disease that specifically affects women? (Lymphangioleiomyomatosis)

Do you sometimes feel short of breath, tired, or have chest pain? We often think of these as symptoms of a common illness like asthma. However, there is a very rare lung disease that causes these symptoms, especially in women. It is called Lymphangioleiomyomatosis. The name is a bit long, so we will call it "LAM" for short. If you find this name difficult to pronounce, think of it like this: "Lymph-ang-ge-o-ly-o-myo-ma-to-sis". Although it is a bit complicated, it can be very important for you to understand this disease in simple terms.

Simply put, what is LAM?

LAM is a rare condition in which abnormal cells grow inside your lungs, forming small cysts. This is caused by genetic mutations that cause the smooth muscle cells in your body to grow out of control. This can damage your lungs. Not only the lungs, but sometimes the kidneys and lymphatic system can also develop these growths.

This disease is most often diagnosed in women between the ages of 20 and 40. That is, after puberty and before menopause. Therefore, doctors believe that the female hormone estrogen plays a role in the development of this disease.

There are two main types of LAM disease.

LAM disease can be divided into two main types, with slight differences between the two.

What are the symptoms of LAM disease?

The symptoms of LAM are very similar to those of other lung diseases, such as asthma and bronchitis. This can sometimes take a while to diagnose. It is important to be aware of this.

• Difficulty breathing (dyspnea): This is the main and most common symptom. Although it may initially be felt only with mild exertion, this condition can worsen over time.
• Wheezing: A whistling sound when breathing, similar to someone with asthma.
• Chest pain: This pain may be felt especially when taking a deep breath.
• Cough: There may be a persistent dry cough.
• Coughing up blood or 'chyle': Chyle is a mucous fluid that comes from our digestive system. It is milky in color. If something like this happens, it is better not to delay at all .

Why does this LAM occur? What is the cause?

Simply put, the main reason for this is the changes (mutations) that occur in two genes in our body called TSC1 and TSC2 . These two genes are like the guards of our body. Their main job is to stop some cells from dividing and multiplying unnecessarily without control. We call these tumor suppressor genes.

Imagine if there was a defect in one of these two protective genes. What happens is that the smooth muscle cells don't get the signal to say, "Okay, enough, stop dividing." So the cells start dividing uncontrollably. The result is:

• Cysts form in the lungs.
• Tumors (angiomyolipomas) form in the kidneys.
• Cysts form in the lymphatic system.

You can inherit this faulty gene from your parents (which causes tuberous sclerosis), or you can have a change in these genes randomly during your lifetime for no apparent reason (which causes sporadic LAM).

Complications and risks of LAM disease

The most common complication of LAM is a collapsed lung . This is medically known as a pneumothorax . More than half of women with LAM will experience this condition at least once in their lives. Sometimes it can recur. In fact, many women are first diagnosed with LAM after they have a collapsed lung and are hospitalized.

In addition, other complications may occur.

How is LAM disease diagnosed?

After listening to your symptoms, if your doctor suspects this disease, he or she will order several tests to confirm it.

The tests the doctor performs

• Lung Function Tests: This involves you breathing in and out through a tube connected to a machine. This can measure how well your lungs are working and how much air they can hold.
• Pulse Oximetry: A small device, similar to a clip, is attached to your finger and measures the amount of oxygen in your blood. This is a very simple and painless test.
• Imaging Scans:
• CT scan (Computed Tomography): This can take detailed 3D images of your lungs. This can help to clearly see if there are any cysts that are specific to LAM.
• HRCT scan (High-Resolution Computed Tomography): This is an advanced version of the CT scan. It can take very clear images of a very small part of the lungs. This is very important for diagnosing LAM.
• VEGF-D blood test: VEGF-D is a protein found in our blood. Many people with LAM have much higher levels of this protein in their blood than normal. So this blood test is very helpful in diagnosing the disease.
• Lung Biopsy: Sometimes, if other tests are not 100% certain, your doctor may decide to take a very small piece of tissue from your lung for testing. This can be done using a procedure called bronchoscopy (a thin tube with a camera inserted into the airways) or VATS (video-assisted thoracic surgery) .

What are the treatments for LAM disease?

First of all, there is no cure for LAM yet. But don't worry. There are now very effective treatments that can control the disease, reduce symptoms, and slow the progression of the disease.

The main treatment is a drug called sirolimus . It is also called rapamycin. This drug works by stopping the growth of cells that grow out of control. This can help to control the further deterioration of the disease to a large extent. It can also help to shrink tumors in the kidneys and lymphatic system and reduce symptoms.

In addition, your doctor may recommend other treatments depending on your condition.

• Oxygen Therapy: If the oxygen level in the blood is low, oxygen tanks are provided for use at home.
• Inhaled bronchodilators: These medications, given through an inhaler, can reduce breathing difficulty.
• Pulmonary Rehabilitation: This is like a special exercise program for the lungs. It helps improve your quality of life through breathing exercises and body-friendly exercises.
• Lung Transplant: When the disease is very advanced and cannot be controlled by any other treatment, a lung transplant may be considered as a last resort.

How quickly does the disease progress?

This varies from person to person. The rate at which LAM progresses depends on several factors.

• The type of LAM you have: People with sporadic LAM may have slightly lower lung function than those with TSC-LAM.
• Your age: For some women, after menopause, the progression of the disease stops or slows down as estrogen levels in the body decrease.
• Your response to treatment: Many people can control the disease well with medications like Sirolimus.

The situation is much better now than it was in the past. With modern treatments, more than 90% of people with LAM are alive 10 years after diagnosis. Many people (about 64%) can live 20 years or more without needing a lung transplant.

When to see your doctor and go to the ETU

When living with LAM, it is very important to know when to seek medical advice and when to go to the Emergency Department (ETU).

Some people ask if LAM is cancer. LAM is not usually considered cancer. However, in some ways, such as the way the cells come from somewhere else to the lungs, they have characteristics similar to cancer. However, when viewed under a microscope, these cells do not look like cancer cells.

It's normal to feel shocked and scared when you learn that you have a life-threatening illness like this. But remember, you are not alone. With the support of your doctors, your family, and your friends, you will find the strength to face this challenge.

LAM, Lymphangioleiomyomatosis, lung disease, shortness of breath, women's health, sirolimus, tuberous sclerosis, pneumothorax, respiratory disease