About lymphangioleiomyomatosis

What is lymphangioleiomyomatosis?

Lymphangioleiomyomatosis (LAM) is a condition that occurs due to abnormal growth of smooth muscle cells, especially in the lymphatic systems and the lungs. This growth leads to the formation of cysts or holes in the lungs. 

  • People suffering from Lymphangioleiomyomatosis have a hard time breathing because it is challenging for them to inhale and exhale air through the bronchial tubes. Also, replacing normal lung tissue with holes weakens the lung’s ability to transport oxygen into the bloodstream.
  • The holes or cysts can also pose a risk for the patients of developing pneumothorax, which is also a build-up of air or gas in the lining of the lungs, that will ultimately lead to a collapsed lung.
  • Lymphangioleiomyomatosis generally affects women. Women who are between the age of 20-and 40 get diagnosed. Approximately 30% of women with tuberous sclerosis also suffer from LAM. 
  • LAM is generally treated by a pulmonologist, a doctor specializing in treating lung diseases. It is of utmost significance that a doctor knows of LAM, and the diseases similar to LAM, to appropriately diagnose and treat the disease. The doctors will examine and consult on your symptoms. 



What are the symptoms for lymphangioleiomyomatosis?

The symptoms of Lymphangioleiomyomatosis (LAM) are almost similar to those of Bronchitis & asthma. That is why many people cannot realize it straight away or are usually given an incorrect diagnosis by doctors who are unaware of the disease. Similarly, the cysts in the lungs can be misinterpreted as emphysema.

The unusual growth of smooth muscle cells and holes in the lungs of patients who have lymphangioleiomyomatosis (LAM) can have the following list of symptoms:

  • Initial symptoms of lymphangioleiomyomatosis are dyspnea. 
  • Cough, and hemoptysis occur less commonly.
  • Chest pain (not often) due to collapsed lungs
  • Sometimes, individuals have bleeding in their lungs (pulmonary hemorrhage) due to obstructed blood vessels.
  • Some women who have lymphangioleiomyomatosis may have crackles and rhonchi (continuous gurgling or bubbling sounds heard during both inhalation and exhalation).
  • Difficulty in breathing, or Wheezing which can get progressively worse over time for people suffering from lymphangioleiomyomatosis.
  • Coughing, sometimes with phlegm (mucus) or blood
  • Chyle (milky bodily fluid) may accumulate in some patients in the abdomen causing an increase in abdominal girth (circumference of the waist).
  • If tumors are formed it affects the kidneys and may cause flank pain, blood in the urine or bleeding into the abdomen.

List of conditions 

  • Wheezing
  • Pneumothorax (collapsed lung)
  • Pleural effusions (a fluid that accumulates in the chest cavity in which the lung sits)

List of symptoms 

  • Difficulty in breathing 
  • Persistent cough 
  • Chest pain 
  • Abdominal discomfort

List of Drugs

  • Sirolimus
  • Rapamune



What are the causes for lymphangioleiomyomatosis?

Lymphangioleiomyomatosis is a disease affecting the lungs, kidneys, and lymphatic system. This occurs due to the abnormal growth of the smooth muscle cells in the lungs and kidneys. These abnormal growths further turn into holes in the lungs and the lymphatic system. 

Lymphangioleiomyomatosis mostly affects women between the age of 20 to 40. Even though there are no treatments for lymphangioleiomyomatosis, its effects can be reduced with prescribed drugs.

The abnormal growth in the lungs and kidneys is caused mainly by:

  • Since Lymphangioleiomyomatosis is a hereditary disease, it is mainly caused in patients who are already suffering from tuberous sclerosis.
  • When two genes called TSC1 and TSC2 are changed, lymphangioleiomyomatosis is caused.
  • When TSC1 and TSC2 are mutated in a particular cell, they restrict protein growth. This restriction leads to unwanted abnormal growth in these particular cells.
  • It is also believed by the researchers that women are more likely to get this disease. It is said that the female sex hormone; estrogen is the main cause of lymphangioleiomyomatosis in women.



What are the treatments for lymphangioleiomyomatosis?

Even though there are no cures for Lymphangioleiomyomatosis, timely treatments can help in reducing its effects and save from the condition being worsened. Some of the treatments are -

  • Taking Sirolimus or Everolimus drugs when the patient has lost functioning of the lungs due to Lymphangioleiomyomatosis. This drug also helps in shrinking large angiomyolipomas.
  • Oxygen therapy is also beneficial in the breathlessness caused by lymphangioleiomyomatosis.
  • If the lungs are severely damaged in the patients, then a lung transplant can also help.
  • To make the flow of air in the lungs, inhaled medications can also work.
  • The process can be followed to remove the unwanted fluids from the lungs or to reduce the angiomyolipomas.
  • It is necessary to seek specialist advice and follow them properly to get relieved from the disease. Consulting the doctor regularly and continuing the medication is necessary. 
  • Along with taking the medications, lifestyle changes and healthy habits can also be beneficial in reducing the suffering. Patients with Lymphangioleiomyomatosis might develop anxiety and depression as well, so it is very crucial to continue providing them emotional support.



What are the risk factors for lymphangioleiomyomatosis?

Lymphangioleiomyomatosis (LAM) is a rare lung disease that predominantly affects women of childbearing age. It is characterized by the abnormal growth of smooth muscle-like cells in the lungs and lymphatic system. These cells can build up and form tumors, which in turn can pose risk factors for Lymphangioleiomyomatosis.

Risk factors associated with Lymphangioleiomyomatosis

There are a number of risk factors that have been identified for the development of LAM. The most significant is gender, as the disease almost exclusively affects women. Other risk factors include:

  • Age:Lymphangioleiomyomatosis is most commonly diagnosed in women between the ages of 20 and 50.
  • Smoking: Cigarette smoking is a significant risk factor for the development of LAM. Women who smoke are up to 10 times more likely to develop the disease than non-smokers.
  • Family history: Women with a family history of Lymphangioleiomyomatosis are at an increased risk of developing the disease.
  • Ethnicity: African American and Hispanic women are more prone to developing LAM.
  • Tuberous sclerosis complex: This is a rare genetic disorder that is associated with an increased risk of developing Lymphangioleiomyomatosis. Tuberous sclerosis is frequently discovered during childhood or infancy. Tuberous sclerosis affects some people in such a mild way that it isn't detected until adulthood, or it goes untreated entirely. 

In the United States, more than 800 women have been diagnosed with either LAM alone or LAM combined with TSC. This estimate is exacerbated by the fact that LAM is frequently misdiagnosed as emphysema, asthma, or bronchitis, which are all prevalent lung diseases.



Is there a cure/medications for lymphangioleiomyomatosis?

Although there is no cure for Lymphangioleiomyomatosis (LAM), medication and a few treatments can help to alleviate symptoms, prevent complications, and slow the progression of the disease. 

  • The most common treatment is the use of a drug known as Sirolimus. Sirolimus may aid in the improvement of lung function, the reduction of symptoms, and the shrinkage of kidney tumors. Sirolimus has some negative effects, some of which might be life-threatening, which you should discuss with your doctor before starting therapy. 
  • Bronchodilators, which are inhaled, can also assist in open airways and enhance breathing.

Patients with Lymphangioleiomyomatosis may require further treatment in addition to their medication. 

  • At first, oxygen therapy, which increases the quantity of oxygen given to your lungs and blood, may be used on a part-time basis, but it may eventually be required on a full-time basis.
  • You can normally go about your normal daily activities in the early stages of Lymphangioleiomyomatosis. As the disease worsens, you may find it more difficult to stay active. 
  • As LAM is a chronic illness, you may experience symptoms and need therapy for the rest of your life.

After being diagnosed with Lymphangioleiomyomatosis, you should talk to your doctor about life planning, pregnancy, and birth control. Expect a tight working relationship with your general care physician and a lung specialist, as well as frequent follow-ups. At different phases of the disease, other specialists may be called in.



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