LAM Disease

What is LAM Disease?

Lymphangioleiomyomatosis (LAM) is a rare lung disease that primarily affects women of childbearing age. This disease is characterized by the abnormal growth of smooth muscle cells, especially in the walls of the airways, blood vessels, and lymphatics in the lungs. This excessive growth leads to the formation of cysts and progressive destruction of lung tissue.

What Causes Lymphangioleiomyomatosis (LAM)?

LAM disease is associated with mutations in the Tuberous Sclerosis 1 or 2 (TSC1, TSC2) genes. These genes play a role in regulating cell growth and proliferation. In LAM, gene mutations cause uncontrolled growth of LAM cells, leading to the disease.

What are the Symptoms of LAM Disease?

The most common symptoms of LAM disease include shortness of breath, cough, chest pain, recurrent lung collapses (pneumothorax),and fatigue.

Shortness of breath is the most common symptom of LAM and typically worsens over time.

A milky fluid accumulating between the lung membranes can also cause chest pain and shortness of breath. Additionally, in cases of recurrent lung collapses (air accumulation between the lung membranes),the patient may present with sudden chest pain and shortness of breath.

How is Lymphangioleiomyomatosis (LAM) Diagnosed?

LAM diagnosis usually involves a combination of clinical evaluation, imaging methods, and sometimes genetic testing. Some of the basic tests used to diagnose LAM include:

• Pulmonary Function Tests (PFTs): These tests measure lung function and can help assess the extent of respiratory impairment. In LAM, PFTs may show a decrease in lung function over time.
• High-Resolution Lung CT Scan: This imaging method is important for detecting cystic changes in the lungs. High-resolution CT scans provide detailed images of lung tissue.
• Ultrasound: Since LAM can affect the kidneys, an ultrasound of the kidneys can also aid in diagnosis. The presence of angiomyolipoma in the kidneys supports the diagnosis.
• Serum Vascular Endothelial Growth Factor-D (VEGF-D) Levels: High levels of VEGF-D in the blood also support the diagnosis of LAM.
• Lung Biopsy: In some cases, a lung biopsy may be performed to confirm the presence of LAM. However, this procedure is done when other methods do not lead to a definitive diagnosis.
• Genetic Testing: LAM can be associated with mutations in the TSC1 or TSC2 genes. Genetic testing may be considered, especially if there are conditions linked to LAM.

How is LAM Treated?

LAM treatment aims to alleviate symptoms, slow disease progression, and improve the patient's quality of life. Currently, there is no definitive cure for LAM.

Treatment options for LAM include:

LAM treatment should be planned as supportive therapy, medication therapy, and lung transplantation. Supportive therapy is used in patients without symptoms and with normal PFTs. These methods include:

Quitting smoking

Avoiding air travel due to the risk of pneumothorax

Preventing pregnancy

Getting vaccinated against influenza, pneumonia, and COVID-19

Exercise and lung rehabilitation: Pulmonary rehabilitation programs may be recommended to improve lung function, physical endurance, and quality of life.

Medication therapy is applied in patients with symptoms, impaired PFTs, or fluid accumulation in the pleura. The most effective drug is Sirolimus.

Sirolimus: Sirolimus is an immunosuppressive drug. It has been shown to stabilize lung function and reduce the size of lung cysts. It is considered the standard medical treatment for LAM.

Lung Transplantation: If LAM has progressed and lung function is severely impaired, lung transplantation may be considered. Lung transplantation can improve respiratory function and overall quality of life for suitable candidates.

Oxygen Therapy: Supplemental oxygen may be recommended to relieve shortness of breath and increase oxygen levels in the blood.

It is important for individuals with LAM to receive comprehensive care from a multidisciplinary team that includes pulmonologists, radiologists, pathologists, and respiratory therapists. Regular monitoring of lung function and imaging studies is critical to assess disease progression and the effectiveness of treatment.