The name is a bit hard to read, isn't it? "Lymphangioleiomyomatosis". No problem, let's just call it LAM . This is a very rare lung disease that mostly affects women. It's understandable to be scared when you hear a name like that. But don't worry. In this article, we'll talk about what LAM is, why it occurs, and what treatments are available for it in a very simple and friendly way.
What does LAM simply mean?
Simply put, LAM is when abnormal smooth muscle cells inside your lungs start to grow out of control. Like little tumors. These cells clump together and form little bubble-like structures called cysts in your lungs. Over time, as these tumors grow, they can damage healthy lung tissue and make it harder to breathe.
This condition is not limited to the lungs. Sometimes, tumors can also develop in the kidneys and lymphatic system. The main cause of this is a mutation in the genes that control the growth of cells in our body.
It is especially important to remember that this disease is most common in women between the ages of 20 and 40, that is, between puberty and menopause. Therefore, doctors believe that the hormone estrogen has something to do with it.
There are two main types of LAMs.
LAM disease can be divided into two main types, with slight differences between the two.
| LAM type | Simple description |
|---|---|
| TSC-LAM | This is a type of LAM that occurs in women with a genetic condition called tuberous sclerosis. This means that it occurs as part of another medical condition. |
| Sporadic LAM | This type is caused by a random genetic change (mutation) that occurs during life. It is not inherited. So if you have this type, you do not need to worry about your children passing on the disease. |
What are the symptoms of LAM disease?
Because the symptoms of LAM are very similar to other common lung diseases, such as asthma, it can sometimes take a while to diagnose. These are the main symptoms.
- Difficulty breathing (dyspnea): Although not noticeable at first, this discomfort can increase over time. It can include feeling tired even when walking short distances, or gasping for breath when climbing stairs.
- Wheezing: A soft sound coming from inside the chest.
- Chest pain: There may be sudden, severe chest pain.
- Cough: 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.
Why does this LAM occur? What is the cause?
As we said before, this is caused by a change in genes. There are two types of genes in our body called TSC1 and TSC2 . These are like 'guardians' that control the growth of cells in our body. They are called 'tumor suppressor' genes. That is, the job of these genes is to prevent cells from dividing unnecessarily and forming tumors.
A person with LAM has a defect, or mutation, in one of these genes, either TSC1 or TSC2. Then those 'guards' don't work properly. As a result, smooth muscle cells start to divide uncontrollably, forming the types of tumors we talked about earlier.
- Lung cysts
- Kidney tumors (angiomyolipomas)
- Lymphatic system tumors
What are the possible complications of this disease?
The most common and dangerous complication of LAM is a collapsed lung (pneumothorax) . Imagine a bubble-like cyst in the lung that suddenly bursts, allowing air to leak into the space between the lung and the chest wall. This causes the lung to collapse. More than half of women with LAM will experience this condition at least once in their lives. Often, LAM is first diagnosed when a collapsed lung occurs.
There may be other complications:
- Accumulation of 'chylous' fluid around the lungs (chylothorax)
- Other fluid accumulation around the lungs (pleural effusion)
- Obstruction of the lymphatic system
How does a doctor diagnose LAM?
After listening to your symptoms and examining you, if the doctor suspects this disease, he will order several tests to confirm it.
| Test | What do you do with this? |
|---|---|
| Lung function tests | It measures how well your lungs work and how much air you can take in and out. |
| Pulse Oximetry | They attach something like a clip to your finger and check the oxygen level in your blood. |
| Imaging (scans) | A CT scan , especially an HRCT (High-Resolution CT) scan, can clearly see those small cysts in the lungs. |
| VEGF-D blood test | VEGF-D is a protein. The levels of this protein are usually high in the blood of people with LAM. This is very helpful in diagnosing the disease. |
| Lung biopsy | If other tests cannot confirm the diagnosis, a small piece of tissue is taken from the lung and examined under a microscope. This can be done using a technique such as bronchoscopy or VATS . |
What are the treatments for LAM?
First of all, there is no cure for LAM yet . But don't worry. There are effective treatments that can help control the disease, reduce symptoms, and prevent it from getting worse.
The main treatment is a drug called sirolimus . It is also called rapamycin. This drug works by stopping the growth of abnormal muscle cells. This can keep the disease stable and shrink tumors in the kidneys and lymphatic system.
In addition, depending on your condition, your doctor may recommend other treatments such as:
- Oxygen therapy: If the oxygen level in the blood is low.
- Inhaled bronchodilators: Reduce breathing difficulty.
- Pulmonary rehabilitation: Exercises and lifestyle advice that strengthen the lungs.
- Lung transplant: A last resort option when the disease is very severe and cannot be controlled by other treatments.
Important: Sirolimus can cause side effects, such as kidney damage and an increased risk of infections. Therefore, talk to your doctor about the pros and cons of this medication before starting it.
Things to know when living with LAM
LAM is a long-term condition. Therefore, you will need to work closely with your pulmonologist. The progression of the disease, that is, the speed at which the disease progresses, varies from person to person. It depends on several factors:
- It depends on what type of LAM you have.
- Your age (for some people, the disease stops getting worse after menopause).
- How your body responds to treatment.
Don't be afraid of a lung transplant. Most people (about 64%) will not need a lung transplant until 20 or more years after diagnosis. Thanks to new treatments, the life expectancy of people living with LAM is now much higher. More than 90% of people are still alive 10 years after diagnosis.
When to seek medical advice
When living with a disease like this, it's very important to take care of your body.
| If you have these symptoms, see your doctor: | |
| |
| Go to the ETU (Emergency Treatment Unit) immediately if you have these symptoms: | |
|
Is LAM a cancer?
This is a problem for many people. LAM is not usually considered cancer . However, it has some characteristics that are cancer-like. For example, cells can appear to have spread from other parts of the body to the lungs and kidneys. However, when viewed under a microscope, these cells do not look like cancer cells, but like normal cells. Also, they do not spread to organs such as the liver or brain.
It's normal to feel like the ground has been ripped from under you when you learn that you have a life-long illness like this. But you're not alone. With the support of your doctor, family, and friends, you can cope with this situation.
Take-Home Message
- LAM is a very rare lung disease that occurs more often in women.
- The main symptoms are difficulty breathing, cough, and chest pain.
- This is due to a genetic mutation, not your fault.
- Although there is no complete cure, the disease can be controlled very well with medications such as sirolimus.
- Maintain regular contact with your respiratory specialist.
- In emergencies such as severe chest pain or severe difficulty breathing, go to the ETU immediately.
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