Understanding LAM Disease and Its Impact on the Lungs

Breathing in the human body happens naturally and effortlessly, allowing the body to receive oxygen and remove carbon dioxide. This simple process is made possible by the lungs, one of the body’s most vital organs. However, this ease can be disrupted when certain rare lung conditions begin to develop. One such rare health conditions that can be experienced by individuals, especially women, is lymphangioleiomyomatosis, also known as LAM disease. Many people are not familiar with this condition or its symptoms, causing further health issues. Therefore, this blog will discuss LAM in detail, highlighting its causes, its symptoms, and its treatment.

What is LAM Disease?

Lymphangioleiomyomatosis, also known as LAM, is a rare lung disease that causes the formation of damaging cysts. This may also cause growth in the kidneys or lymphatic system, further adding to the patient's discomfort. Doctors have observed that this disease primarily affects women, with most diagnoses occurring between the ages of 20 and 40. 

Types of Lymphangioleiomyomatosis

There are two types of LAM disease:

• Tuberous Sclerosis Complex-LAM: In some women, a genetic disorder called tuberous sclerosis complex (TSC) can result in lymphangioleiomyomatosis (LAM). The underlying genetic condition is associated with this kind of LAM.
• Sporadic LAM: An arbitrary genetic mutation causes this type of LAM to develop over the course of a person's lifetime. Unlike TSC-LAM, sporadic LAM is not inherited and cannot be passed on to the descendants of a person.

Symptoms of LAM disease

People living with LAM may notice the following symptoms as the disease progresses:

Shortness of Breath

Individuals may find it difficult to breathe, especially during physical activity or as the condition worsens. This can make everyday tasks like walking or climbing stairs tiring, as the lungs are unable to supply enough oxygen to the body.

Wheezing

Wheezing is a whistling sound that occurs while breathing, usually due to narrowed or blocked airways. It may become more noticeable during exertion or at night, and can make breathing feel uncomfortable or strained over time.

Chest Pain

Some individuals may experience pain or discomfort in the chest, which can range from mild to severe. This pain may worsen with deep breathing, coughing, or movement, and can sometimes feel like tightness or pressure in the chest.

Persistent Cough

A long-lasting cough may develop without a clear cause, such as an infection. It can be dry or mild but persistent, often interfering with daily comfort and sleep, and may gradually worsen if the underlying lung condition progresses.

Coughing Up Blood

In some cases, individuals may cough up small amounts of blood. This can be alarming and may indicate damage or irritation within the lungs, requiring prompt medical attention to identify the cause and prevent further complications.

Causes of LAM disease

When there is a mutation in two genes, namely, TSC1 and TSC2, it can cause the LAM disease. These two genes are tumour suppressor genes. They are known to keep certain cells from growing out of control. When one of them changes, the smooth muscle cells increase when they should not.

An individual can inherit an abnormal copy of TSC1 or TSC2 from their parents, or changes in their genes can suddenly happen. The cause of these changes is unknown. 

Health Complications of LAM disease

The following are some health issues people with Lymphangioleiomyomatosis are often subject to:

Pneumothorax (Collapsed Lung)

This is the most common complication of LAM, where air collects around the lungs and causes them to collapse. It affects many women with the condition, can happen more than once, and is often the first sign that leads to diagnosis.

Chylothorax (Chyle Around the Lungs)

In this condition, a milky fluid called chyle builds up around the lungs. This fluid puts pressure on the lungs, making it harder to breathe and causing discomfort, especially if the fluid continues to accumulate over time.

Pleural Effusion (Fluid Around the Lungs)

Pleural effusion occurs when excess fluid collects in the space around the lungs. This can lead to chest pain, a feeling of heaviness, and difficulty breathing, especially during movement or physical activity.

Lymphatic Blockage

Blockage in the lymphatic system can prevent proper fluid drainage in the body. This may cause fluid buildup and swelling in areas such as the chest, abdomen, or limbs, leading to discomfort and other related health issues.

Diagnosis and Tests for LAM Disease

Lymphangioleiomyomatosis diagnosis involves the healthcare provider asking a couple of questions about the symptoms an individual may face.  The following are some tests they will ask individuals to take:

• Lung function tests: These tests measure how well the lungs are working and how effectively a person can breathe.
• Blood oxygen level test (pulse oximetry): This test checks the amount of oxygen in the blood to assess breathing efficiency.
• Imaging tests (HRCT, MRI, CT scans): These scans provide detailed images of the lungs to detect cysts or other abnormalities.
• Blood test (including VEGF-D levels): Blood tests help assess overall health, detect infections, and measure VEGF-D levels, which may be elevated in some individuals with the condition.
• Lung biopsy: A small sample of lung tissue may be collected through procedures like bronchoscopy or video-assisted thoracic surgery (VATS) to confirm the diagnosis.

Treatment of LAM Disease

There is no cure for Lymphangioleiomyomatosis. However, certain medicines prescribed by your doctor can help ensure that the condition does not get worse. These medicines can also help shrink kidney growths, lymphatic masses and fluid collection. This, in turn, can reduce the symptoms. 

Other treatment options might include:

• Oxygen therapy: Supplemental oxygen is provided to help maintain adequate oxygen levels in the blood and ease breathing.
• Inhaled bronchodilators: These medications help relax and open the airways, making breathing easier.
• Pulmonary rehabilitation: This involves a structured programme of exercise, education, and breathing techniques to improve lung function and overall well-being.
• Lung transplant: In severe cases, a lung transplant may be considered when other treatments are no longer effective.

Conclusion

Lymphangioleiomyomatosis is a rare lung condition that can gradually affect breathing and the overall health of an individual. Although there is currently no cure, early diagnosis and proper medical care can help manage the disease and slow down its progression. Medication and oxygen therapy are examples of treatments that can lessen symptoms and enhance quality of life.

Health conditions should never be taken for granted. Regular check-ups, tests and sometimes treatment plans can be expensive. If your loved ones are suffering from such a life-threatening condition, having a health insurance plan helps. NRIs looking for health covers for their loved ones can explore the Niva Bupa NRI health insurance plans. These plans work across a network of hospitals and offer comprehensive coverage. Thus, access to healthcare becomes easier.  

FAQs

1. How common is the LAM disease?

This is a rare disease that predominantly occurs in females. Lymphangioleiomyomatosis is estimated to occur in less than 1 in 140,000 females. However, LAM is more commonly found in females with tuberous sclerosis complex. In fact, 30 to 80 per cent of females with tuberous sclerosis complex have LAM.

2. Are men at risk of developing LAM disease?

Lymphangioleiomyomatosis usually only affects women and not men. However, there have been some rare diagnoses of the same. Thus, consulting a doctor is very

 important. 

3. What is the life span of people with lymphangioleiomyomatosis?

This disease can weaken lung function. If the lung doesn’t work like it normally needs to, the person with the disease may need a lung transplant. Thus, there’s a 10-year survival rate for patients when the LAM ranges from 80 to 90 per cent. If proper care and check-ups are done, one can expect to lead a normal life.

4. Can lymphangioleiomyomatosis be cured?

LAM disease is known to be progressive in nature. Meaning, it gets worse over a period of time. There is no cure for this disease; however, certain treatment options can help improve the symptoms. These can, in turn, prevent health complications and maintain normal lung function.  

5. Who is at a higher risk of getting LAM disease?

Lymphangioleiomyomatosis is a condition that affects women during their childbearing age. This age can be defined as between puberty and menopause, when one can get pregnant. 

6. What is the main cause of Lymphangioleiomyomatosis?

The main cause of this disease is the mutation (changes) in the tuberous sclerosis genes.

7. Do people with LAM need to get a lung transplant?

If the patient with LAM does not have a functional lung, they would be advised to undergo a lung transplant if the condition is severe. 

8. What are the major complications of LAM?

Patients with this condition are at risk of developing pleural effusions or experiencing a lung collapse, called a pneumothorax. All of this can add up to the lungs not functioning properly and thus requiring immediate help from healthcare professionals.

9. What are the two types of lymphangioleiomyomatosis?

There are two types of this condition, namely, TSC-associated LAM and sporadic LAM.

10. What does having LAM feel like?

People with LAM often complain about having shortness of breath. This is especially true after they have engaged in some activity. They might also experience constant coughing followed by bloody phlegm and chest pain. Some may also experience pain in their abdomen and flank pain. If any of these signs show up, one must seek the help of a trusted doctor immediately.