Lymphangioleiomyomatosis (LAM): Causes, Symptoms, Treatment and Cost

Lymphangioleiomyomatosis (LAM) is an uncommon lung illness that mostly affects women of reproductive age. It is distinguished by aberrant smooth muscle cell development in the lungs, lymph nodes, and other organs.

There are two types of LAM: sporadic and tuberous sclerosis complex (TSC) associated LAM.

• Sporadic LAM: The most frequent type of LAM is sporadic LAM, which occurs in persons who do not have TSC. It is a result of mutations in the tuberin gene. Although symptoms often manifest in adulthood, instances in children as early as one year old have been observed.
• Tuberous Sclerosis Complex (TSC): TSC-associated LAM occurs in people with TSC, a genetic disorder that causes benign tumours to grow on various organs throughout the body including the brain and lungs. Symptoms typically begin during childhood or adolescence but can also occur later in life depending on when TSC was diagnosed.

Although its origins remain a mystery, LAM is thought to originate from either an excessive immune response or from genetic mutations that lead to aberrant cell division and proliferation.

• Breathlessness and/or coughing, particularly during exertion.
• Wheezing and chest pain.
• Recurrent pneumothorax (collapsed lung).
• Abnormal accumulation of fluid in the lungs (pleural effusion) or abdomen (ascites).
• Fatigue, weakness, or loss of energy.
• Muscle weakness or cramps in arms and legs.
• Kidney cysts or kidney failure.

• As smoking is a proven risk factor for LAM, quitting smoking may lessen the likelihood of getting the disease
• Limiting exposure to dust, fumes, and other environmental pollutants may also help reduce the risk of developing LAM.
• Eating a healthy diet and exercising regularly can help improve overall health and potentially reduce the risk of developing LAM.
• If you have been diagnosed with tuberous sclerosis complex (TSC), it is important to be monitored regularly by your doctor in order to detect any signs or symptoms of LAM early on.

LAM may be difficult to diagnose since symptoms might differ from person to person. Diagnostic tests for LAM include:

• Physical examination: Physical examination findings may include decreased breath sounds on auscultation, retractions with respiratory effort, and wheezing. Other signs may include clubbing of the fingers and toes, digital clubbing (enlargement of the distal phalanges), pleural effusion, or ascites.
• Complete blood count (CBC): This test is important in assessing levels of white blood cells and red blood cells which can help diagnose LAM.
• Chest X-ray (CXR): A chest X-ray is useful in evaluating pulmonary nodules and cysts which are common findings with LAM.CT scan (computed tomography scan): A CT scan is used to detect enlarged lymph nodes, cysts, and tumors that may be present with LAM.
• Pulmonary function tests: Pulmonary function tests (PFTs) may be performed to evaluate the degree of lung involvement and the efficacy of therapy in individuals with LAM.They are also used to help diagnose LAM in cases where other imaging studies fail to detect it. PFTs measure how well a patient’s lungs are functioning by measuring airflow, oxygen levels, and other variables.
• Bronchoscopy: Bronchoscopy can be used to take biopsies of the airways and lungs, and to collect cells for examination. This procedure can help diagnose LAM by identifying specific changes in cells that are characteristic of the disease. Additionally, bronchoscopic imaging can help detect areas of narrowing or obstruction in the airways due to abnormal growths associated with LAM.

• Respiratory complications: Lung collapse, airflow obstruction, and recurrent pneumothorax (lung collapse) are common respiratory complications of LAM.
• Kidney complications: Renal cysts and progressive kidney failure due to the formation of tubular ectasia (abnormal widening of the renal tubules) are common kidney-related complications of LAM.
• Cardiac complications: Cardiac arrhythmias, heart valve abnormalities, and cardiomyopathy (heart muscle weakness) may occur in individuals with LAM.
• Skeletal complications: Bone fractures can occur due to weakened bones caused by hormonal imbalances associated with LAM.
• Reproductive system complications: Infertility is a common complication in women with LAM as the disease can decrease ovarian function in some cases.

• Turmeric: Turmeric has anti-inflammatory properties that may help reduce inflammation in the lungs caused by LAM. It may be eaten as a supplement with meals or as a powder.
• Ginger: Ginger has been used for centuries to treat respiratory ailments such as coughs, colds, and asthma. It can also help minimise lung inflammation produced by LAM and enhance lung function.
• Licorice Root: Licorice root may also be beneficial for those with LAM, as it can help reduce inflammation in the lungs and open up airways for easier breathing.
• Tulsi (Holy Basil): Tulsi is an herb that has been used in Ayurvedic medicine for centuries to treat respiratory conditions such as asthma and bronchitis due to its anti-inflammatory properties. It may also be beneficial for those with LAM, as it can help reduce inflammation in the lungs and open up airways for easier breathing.
• Ashwagandha: Ashwagandha is an herb commonly used in Ayurvedic medicine due to its ability to reduce stress levels and improve overall health and wellbeing .It may also be beneficial for those with LAM, as it can help reduce inflammation in the lungs caused by this disorder.

• Eating a healthy, balanced diet is important for people with Lymphangioleiomyomatosis (LAM).
• Fruits and vegetables, which are rich in antioxidants, are particularly useful in this regard.
• Protein-rich foods like lean meats, eggs, fish and legumes should be included in the diet to help support muscle health and tissue repair.
• Whole grains provide energy and dietary fiber to help with digestion and keep blood sugar levels stable.
• For vital fatty acids and vitamins A, D, and E, healthy fats like olive oil, nuts, seeds, and avocados should be part of the diet.
• It is also critical to keep hydrated by drinking enough of water every day to help the body drain out contaminants.

• Red meat and fried foods are examples of high-fat, high-cholesterol foods that should be avoided.
• You should also restrict or avoid eating foods like candies, cakes, and sugary beverages.
• One's alcohol intake need to be reduced or eliminated entirely.
• Caffeinated beverages can worsen breathing difficulties and should be limited.
• Processed foods that are high in sodium are not recommended due to their association with fluid retention.

Treatment options for LAM include:

• Medications: Corticosteroids, sirolimus, and everolimus are commonly used to slow down cell growth and prevent new tumours from forming.
• Lung transplantation: This is the only definitive treatment for LAM, and involves surgically replacing one or both of the affected lungs with a healthy donor organ.
• Thoracic duct ligation: This procedure involves surgically tying off or ligating a thoracic duct in order to reduce lymphatic fluid flowing into the lungs and thereby reduce symptoms such as shortness of breath caused by congestion in the lungs.
• Pleurectomy/decortication: These procedures involve surgically removing some or all of the pleural membrane around a lung, which can help reduce pressure on an affected lung and improve breathing ability.
• Research Trials: Patients may be eligible for clinical trials that test new treatments for LAM.
• Supplemental oxygen therapy: Supplemental oxygen therapy is a common treatment for patients with Lymphangioleiomyomatosis (LAM). This therapy involves providing extra oxygen to the patient in order to improve their breathing and reduce the severity of their symptoms.
• Pulmonary rehabilitation: Pulmonary rehabilitation typically consists of a combination of education, exercise, breathing techniques, and psychological support. Education helps people manage their disease everyday. Exercise helps improve strength and endurance while improving overall fitness levels. Breathing techniques help patients control their breathing patterns to reduce shortness of breath during activities such as walking or climbing stairs. Psychological support can help patients cope with the physical and emotional effects of living with LAM.

A doctor specialising in pulmonary medicine, such as a pulmonologist, should be consulted for a diagnosis and treatment of lymphangioleiomyomatosis (LAM). Pulmonologists diagnose and treat lung disorders like LAM. Once the diagnosis is confirmed, the pulmonologist will work with other doctors to come up with an individualised treatment plan for each patient.

Medications for LAM often consist of the following:

• Sirolimus (Rapamune): This immunosuppressant drug helps to reduce the growth of abnormal cells in the lungs.
• Oestrogen replacement therapy: Oestrogen replacement therapy can help to slow down the progression of LAM by decreasing levels of hormones that stimulate growth in abnormal cells.
• Bronchodilators: Bronchodilators such as albuterol and ipratropium bromide can help to open up airways and improve breathing.
• Corticosteroids: Corticosteroids such as prednisone can be used to reduce inflammation in the lungs caused by LAM, helping to improve breathing and reduce symptoms such as coughing or wheezing.

Recovering from lymphangioleiomyomatosis (LAM) may be somewhat varied depending on the severity of the ailment as well as the kind of therapy that is used. Generally, a person's recovery time can range from several weeks to several months.

The goal of lymphangioleiomyomatosis (LAM) treatment is to alleviate symptoms and slow the course of the illness. In some cases, treatment can be successful in improving lung function and preventing further decline.

However, it is important to note that LAM is a progressive disorder, meaning that there is no cure and the results of treatment are not permanent. The effects of any treatments are usually only temporary and need to be monitored regularly to ensure that any changes in symptoms or lung function are addressed quickly.

• It is important to follow the doctor's instructions for post-surgical care. This includes avoiding strenuous activities and taking medications as prescribed.
• Patients should also be checked on a frequent basis for indicators of problems like infection or bleeding. If any of these happen, they should be promptly informed to a doctor.
• Physical therapy may be prescribed after surgery to aid with pain control and muscle strengthening.
• Breathing exercises, which may help enhance respiratory function and lessen shortness of breath, may also be beneficial to patients.
• Follow-up appointments with the doctor are important to monitor progress and check for any signs of recurrence or new symptoms that may require further treatment or evaluation.
• It is important for patients to maintain a healthy lifestyle by eating a balanced diet, exercising regularly, getting enough sleep, and managing stress levels in order to reduce their risk of developing complications from LAM or other medical conditions that may arise due to their weakened immune system post-surgery.

• The cost of Lymphangioleiomyomatosis (LAM) treatments in India can vary widely depending on the type and severity of the condition, as well as the specific treatments prescribed by a doctor.
• Medication for LAM might cost anywhere between Rs. 5,000 and Rs. 10,000 each month. Additionally, surgery and other medical procedures related to LAM can cost anywhere from Rs. 50,000 to Rs. 1 lakh or more depending on the complexity of the case.

• Common side effects of LAM treatments include fatigue, weight loss, increased thirst, muscle pain, and difficulty breathing.
• Other side effects may include changes in blood sugar levels, joint pain or stiffness, nausea or vomiting, increased heart rate, irregular heartbeat and chest pain.
• LAM treatments may cause kidney damage as well as an elevated risk of lung cancer and lymphoma in the long run.
• Treatment with drugs such as rapamycin can cause allergic reactions such as rash or hives; swelling of the face, mouth or throat; fever; chills; joint pain and dizziness.
• Surgery to remove affected areas can cause complications such as bleeding, infection and scarring in the affected area as well as a risk of respiratory failure due to general anaesthesia used during the procedure.

If you are suffering from any complications relating to lymphangioleiomyomatosis (LAM) then you should consult a doctor nearby as they can cause complications like respiratory, cardiac and skeletal complications, etc. in which treatment course can range from a few months to years depending on the severity of the situation.