Do you have these problems with your lungs? Let's talk about LAM (Lymphangioleiomyomatosis)

Have you ever heard of this disease with a rather long name called LAM (lymphangioleiomyomatosis)? You may find the name strange. But it is a rare disease that affects the lungs. Today, we will talk about it simply, in a way that you can understand. Don't worry, we will explain everything.

What exactly is LAM (Lymphangioleiomyomatosis)?

Simply put, LAM is a rare disease that causes fluid-filled cysts to form inside your lungs. This can damage your lungs. It can also sometimes cause cysts in your kidneys and lymphatic system. Imagine what would happen if the smooth muscle cells in your body suddenly started growing out of control. That's what happens here. It's caused by genetic mutations.

This condition, called LAM (pronounced “limf-AN-gee-oh-ly-oh-my-oh-muh-TOH-sis”) , mostly affects women . It usually affects women between the ages of 20 and 40, or women who have gone through puberty and are nearing menopause. Because of this, doctors think that the hormone estrogen or the presence of a uterus may have something to do with the development of these tumors.

What are the main types of LAM?

There are two main types of LAM:

1. TSC-LAM: Some women have a genetic condition called ``Tuberous Sclerosis Complex - TSC''. If they develop LAM, it is called TSC-LAM.

2. Sporadic LAM: This occurs randomly, meaning that a mutation occurs in a gene at random during life. The important thing is that this type of Sporadic LAM is not passed on to your children.

How common is this disease called LAM?

LAM is actually a very rare disease . It is estimated that about one in 140,000 women may have this disease. However, between 30% and 80% of women with ``Tuberous Sclerosis`` may have LAM.

What are the symptoms of LAM disease?

A person with LAM may experience symptoms such as:

• Difficulty breathing (dyspnea) : Sometimes this can gradually increase.
• Wheezing is a whistling sound coming from the chest .
• Chest pain .
• Cough .
• Sometimes there is blood or chyle (`(chyle)` - lymphatic fluid from the digestive system) coming out with the mucus .

Don't assume that you have LAM just because you have these symptoms, as they can also be symptoms of other lung diseases. Therefore, it is important to seek medical advice.

Why does this LAM occur? What is the cause?

The main cause of LAM is mutations in two genes in our body called `(TSC1)` and `(TSC2)`. These two genes are like tumor suppressor genes that stop things like cancer cells from growing unnecessarily in our body. So, if there is a defect in either of these two genes, those smooth muscle cells that I mentioned earlier start to grow uncontrollably. As a result, this is:

• Lung tumors (pulmonary lymphangioleiomyomatosis) develop.
• Tumors (angiomyolipomas) form in the kidneys.
• Cysts form in the lymphatic system.

How does someone get LAM?

There are two ways a person can develop LAM. One is by inheriting the defective gene from a parent who has a defect in either the `(TSC1)` or `(TSC2)` gene. This inheritance results in the condition `(Tuberous Sclerosis)`, and with it comes the risk of developing LAM. More than 30% of women with `(Tuberous Sclerosis)` have LAM.

The other way is that a mutation in the `(TSC2)` gene occurs spontaneously, without any hereditary connection. The exact cause of this is not known. The LAM that develops in this way is called Sporadic LAM. In this case, the other symptoms of `(Tuberous Sclerosis)` do not appear.

Who is at higher risk of developing LAM?

Although this is surprising, LAM most often occurs in women . Only a few men have been diagnosed with LAM to date. Only one man has been reported to have sporadic LAM.

Also, LAM can be more severe during pregnancy and when using medications containing estrogen .

What are the possible complications of LAM?

The most common complication of LAM is pneumothorax . Like a balloon bursting, air leaks out of the lungs and causes the lungs to collapse. More than half of women with LAM will have at least one episode of pneumothorax in their lifetime. Sometimes this can happen again and again. LAM is often diagnosed after this episode.

Other complications include:

• Accumulation of fluid called chyle around the lungs (chylothorax).
• Fluid accumulation around the lungs (pleural effusion).
• Obstruction of the lymphatic system.

How is LAM disease diagnosed?

To diagnose LAM, a doctor will first examine you and ask about your symptoms. They will then order tests and imaging tests to determine the following:

• See how well your lungs are working.
• Check the oxygen level in the blood.
• Check for any changes in the lungs.
• Check to see if there are more than normal amounts of certain ``proteins'' in the blood.

Because the symptoms of LAM are similar to those of other common lung diseases, it can sometimes be difficult for doctors to diagnose.

What tests are used to diagnose LAM?

You may need to do tests like these:

• Lung function tests : These check how well your lungs help you breathe in and out.
• Blood oxygen level testing (`(pulse oximetry)`) : A simple test that involves attaching something like a clip to your finger.
• Imaging tests : These include CT scans (Computed Tomography scans), MRI (Magnetic Resonance Imaging), or HRCT (High-Resolution Computed Tomography) scans. An HRCT scan can produce a clear picture of even a very small area of ​​the lungs, making it easier to diagnose some lung diseases.
• VEGF-D test : Your doctor may do a blood test to check for infections, how well your other organs are working, and your levels of a protein called VEGF-D (Vascular Endothelial Growth Factor-D). Many people with LAM have high levels of this protein, but not everyone does.
• Lung biopsy : This involves taking a small piece of tissue from the lung and testing it in a laboratory. This sample can be taken either by bronchoscopy (a procedure in which a tube with a camera is passed into the lungs) or by video-assisted thoracic surgery (VATS).

How is LAM disease treated?

Unfortunately, there is currently no cure for LAM. However, the drug sirolimus (also known as rapamycin, brand name Rapamune®) can help stabilize the disease and prevent it from getting worse. Sirolimus can help shrink kidney tumors (angiomyolipomas), reduce tumors and fluid buildup in the lymphatic system, and help reduce your symptoms.

As other treatments:

• Oxygen therapy : For those who have difficulty breathing.
• Inhaled bronchodilators : These are like inhalers. They open up the airways in the lungs and make it easier to breathe.
• Pulmonary rehabilitation : This is a program that combines exercise, education, and counseling.
• Lung transplant : As a last resort for those whose disease has progressed to a very advanced stage.

Let's also learn about the side effects and complications of treatment.

Sirolimus can sometimes cause serious kidney damage and increase the risk of serious infections . Therefore, it is very important to discuss the pros and cons of using this medication with your doctor before making a decision.

What kind of future can someone with LAM expect?

LAM can get worse over time. Your treatment plan may change depending on what treatment is right for you. You will work with your pulmonologist (pulmonologist) to determine the best way to monitor your condition. He or she will regularly check your lung function. Your treatment plan will be based on:

• your age.
• Your menopausal status (whether you have gone through menopause or not).
• How quickly lung function declines.
• Whether your kidneys or lymphatic system have been affected.

How fast is LAM spreading?

How quickly LAM spreads can vary from person to person . There are several factors that can affect this:

• The type of LAM you have : Although people with `(TSC-LAM)` have relatively better lung function than those with `(Sporadic LAM)`, the rate of decline in lung function is largely the same in both.
• Your age : For some people, LAM stops spreading after menopause, when estrogen levels in the body decrease.
• How you respond to treatment : The drug sirolimus can stabilize the disease in many people.

When is a lung transplant necessary?

Many people with LAM (about 64%) can live 20 years or more after diagnosis without needing a lung transplant. However, because LAM cells do not start in the lungs, the cysts can still develop even after a lung transplant .

What is the life expectancy with LAM? (Life Expectancy)

How long you can live with LAM depends on the severity of the disease and how quickly it spreads. But, overall, the situation is much better now than it used to be. More than 90% of people with LAM are alive 10 years after being diagnosed.

How do I take care of myself?

Talk to your pulmonologist (pulmonologist) about what to expect and how to make a plan for living with LAM. See your doctor on time, take your medications as prescribed, and tell your doctor right away if you have any new symptoms, if your symptoms get worse, or if you have side effects from your treatment.

When should you see a doctor? When should you go to emergency care?

If you have difficulty breathing, a cough, or other worrisome symptoms, whether they persist or worsen, be sure to see a doctor.

When to go to the Emergency Treatment Unit (ETU) :

If you have signs of a lung collapse (pneumothorax) or other serious symptoms, go to the hospital immediately:

• If you have difficulty breathing .
• If you have severe chest pain .
• If you cough up blood .
• If the skin, lips, and nails turn blue (`(cyanosis)`) .

What are the important questions to ask the doctor?

It may be helpful to ask your doctor questions like these:

• Do I have `(Sporadic LAM)` or `(TSC-LAM)`?
• What treatment options do I have?
• How should I use my medication?
• What new or worsening symptoms should I look out for?
• Will I need a lung transplant?

Is LAM a cancer?

LAM is not usually considered cancer . However, in some ways it behaves like a cancer that spreads from one place in the body to another (metastatic cancer). This means that cells start in one place and travel through the blood vessels and lymphatic system to the lungs and kidneys. This type of growth is sometimes called benign cell metastasis.

But scientists are still not sure where these cells start. Also, these tumors do not appear to spread widely to other organs, such as the liver or brain, like cancer. When viewed under a microscope, these cells look more like normal cells than cancer cells.

Thanks to new treatments and increased understanding of LAM, people are now living longer without a lung transplant. But it takes time to adjust to this new lifestyle. Learning about a lifelong illness can feel like the ground has been ripped out from under your feet. But your medical team – and your personal support team – can help you get back on your feet.

Finally, what to remember

LAM can be a challenging disease, but you are not alone. With advances in medical science, there are many ways to manage this disease. The most important thing is to stay positive, follow your doctor's advice, and don't give up hope. Talk to your doctor and your loved ones about your concerns and fears. Remember, there are many people who can help you on this journey.

` LAM, lung disease, rare disease, breathing difficulty, sirolimus, lung transplant, genetic mutations