What is Lymphangioleiomyomatosis?

Lymphangioleiomyomatosis is one of the rarest lung illnesses that usually affects the women in their child bearing period of life. However, lymphangioleiomyomatosis, also known as LAM, can also affect men but very rarely. It can be defined as a systemic and progressive disease that most of the times results in cystic lung destruction. This disease rarely becomes malignant.

However, certain cases of lymphangioleiomyomatosis were malignant. Most of the women who were diagnosed with Tuberous Sclerosis Complex (TSC-LAM) can expect to develop lymphangioleiomyomatosis. Tuberous Sclerosis Complex is a heritable syndrome whose main symptoms are seizures, benign tumors of various tissues, and cognitive impairment. However, most of the patients with lymphangioleiomyomatosis are not diagnosed with TSC-LAM type of this disease, but rather with the sporadic type of lymphangioleiomyomatosis called S-LAM. S-LAM is slightly associated with Tuberous Sclerosis Complex.

Men diagnosed with lymphangioleiomyomatosis get it only due to pre-existing Tuberous Sclerosis Complex. Thus, men can only get diagnosed with TSC-LAM. Most of the women diagnosed with lymphangioleiomyomatosis have the sporadic type of that illness- S-LAM. Thus, only women in their middle age are affected with S-LAM.

What is Lymphangioleiomyomatosis?

Causes of Lymphangioleiomyomatosis

No one knows for certain what is the cause of lymphangioleiomyomatosis. Many medical doctors and pneumologists suspect that the female sex hormone called estrogen has to do something with the development of lymphangioleiomyomatosis. The reason for that is the fact that only in extremely rare cases women before puberty or after the menopause develop lymphangioleiomyomatosis. As we have said earlier, this lung condition is extremely rare in men. There were only 10 documented cases of men who had this illness.

Although the main cause of most of the lung diseases is smoking, but that cannot be said regarding lymphangioleiomyomatosis. Smoking does not cause lymphangioleiomyomatosis. Why? More than half of the persons who were diagnosed with this rare condition had never smoked a cigarette.

This disease is so rare that it will always remain a mystery how often does this lung condition occur. During a three-year-long American study of the incredibly rare lymphangioleiomyomatosis syndrome, only 250 new cases of this condition were recognized by medical professionals. This day, between 1000 to 2000 women live with this rare lung disease.

Although an inexperienced pathologist would tell that the cells of lymphangioleiomyomatosis look like cancer, it is actually not a cancer. However, lymphangioleiomyomatosis looks like most of the other diseases whose main characteristic is the growth of abnormal benign neoplasms. Lymphangioleiomyomatosis is highly similar to a condition called Tuberous Sclerosis Complex (TSC) and it often comes in pair with that illness (TSC-LAM).

Symptoms of Lymphangioleiomyomatosis

The average age when symptoms of lymphangioleiomyomatosis occur in people is any age from the early to mid 30s. The initial symptoms of lymphangioleiomyomatosis include exertional dyspnea (shortness of breath), and spontaneous pneumothorax. Nearly 49% of people diagnosed with this disease experience those initial symptoms. Spontaneous pneumothorax is a very serious symptom of lymphangioleiomyomatosis. Pneumothorax is defined as a sudden collapse of the lung.

In the case of lymphangioleiomyomatosis, sudden pneumothorax occurs when some of the cysts which define lymphangioleiomyomatosis suddenly rupture near lung's edge. That makes the inhaled air able to compress the lung. Pneumothorax always leads to the shortness of breath and it is a medical urgency that has to be solved immediately.

Since lymphangioleiomyomatosis disease's main characteristic is the abnormal development of smooth muscle cells, if those same affected muscle cells travel outside the lungs, they can cause symptoms such as:

Chylous ascites is a symptom of lymphangioleiomyomatosis as it is a condition when the flow of vital lymph liquid is blocked by errant smooth muscle cells. When that happen, a fluid called chyle builds up in the stomach.

Angiomyolipomas are common in people with lymphangioleiomyomatosis. They are benign tumors that occur in the liver or kidneys. Although Angipmyolipomas are benign, they cause pain in the liver region or in the kidney region. Also, they can cause internal bleeding which might be fatal.

Sadly, the diagnosis of Lymphangioleiomyomatosis is most of the time delayed by 6 years. The reason for that is that no medical doctor would ever suspect his or her patient has lymphangioleiomyomatosis since it is a very rare condition. Most medical professionals misdiagnose lymphangioleiomyomatosis for Asthma or Chronic Obstructive Pulmonary Disease (COPD). What makes medical doctors suspect a person has lymphangioleiomyomatosis is pneumothorax.

To be diagnosed with lymphangioleiomyomatosis, a person must have at least some of the following symptoms:

  • Fatigue.
  • Cough.
  • Hemoptysis - Coughing up Blood.
  • Chest Pain.
  • Chylothorax.
  • Chylopericardium.
  • Chylous Ascites.
  • Chyloptysis.
  • Vaginal Chyle.
  • Chyluria.
  • Chyle in Stool.
  • Angiomyolipomas.
  • Cystic lymphangiomyomas.

Tests to Diagnose Lymphangioleiomyomatosis

It is a well-known fact among the medical professionals and radiologists that lymphangioleiomyomatosis is one of the hardest medical conditions to be diagnosed.
Most of the people, unaware that they have lymphangioleiomyomatosis, visit their doctors because they worry about their shortness of breath. As we have told, lymphangioleiomyomatosis is so rare, that underlying lymphangioleiomyomatosis might be misdiagnosed for more common asthma or emphysema.
Lymphangioleiomyomatosis finally get diagnosed with the following procedures:

  • Chest X-ray. The lung X-ray of a person with lymphangioleiomyomatosis usually shows fine lines running through the lungs.
  • Pulmonary Function Tests. These test measure lung's capacity. The results of these tests are often abnormal in the people with lymphangioleiomyomatosis.
  • CT Scan. CT Scan is the best way to suspect for the existence of lymphangioleiomyomatosis in one's lungs. The CT scan of people with lymphangioleiomyomatosis shows numerous small cysts in the lungs.
  • Biopsy. The biopsy of the lung tissue is the only way to be 100% certain a person has lymphangioleiomyomatosis.

Treatment for Lymphangioleiomyomatosis

Treatment for Lymphangioleiomyomatosis

Sadly, there is no cure for lymphangioleiomyomatosis. However, there is still hope for patients with lymphangioleiomyomatosis since there are certain treatments available for this condition. Those treatments are the medical drugs called sirolimus and everolimus. These medical drugs improve the lung function in lymphangioleiomyomatosis patients.
Oxygen therapy is used for women who have the advanced stages of lymphangioleiomyomatosis. The last line of treatment of lymphangioleiomyomatosis is lung transplant.

Life Expectancy for Lymphangioleiomyomatosis

The life expectancy of women diagnosed with lymphangioleiomyomatosis varies anywhere from 10 to 30 years. Women who take medications for lymphangioleiomyomatosis tend to live longer and happier lives.

90% of women who were diagnosed with lymphangioleiomyomatosis had lived 10 years after the initial diagnosis. Sadly, the life expectancy after 10-year-survival after being diagnosed with lymphangioleiomyomatosis slowly declines.

Prevention of Lymphangioleiomyomatosis

There is no way to prevent lymphangioleiomyomatosis. Although lymphangioleiomyomatosis is a lung condition and it is known that smoking causes most of the lung diseases, smoking cessation will not prevent lymphangioleiomyomatosis.

Prognosis/Outlook for Lymphangioleiomyomatosis

As it was told earlier, 90% of women and men who were diagnosed with lymphangioleiomyomatosis live 10 years after being diagnosed with lymphangioleiomyomatosis.
Unfortunately, after surviving 10 years of lymphangioleiomyomatosis, the prognosis for the illness starts to decline greatly.

Risk Factors for Lymphangioleiomyomatosis

Pregnancy may also be a risk factor for developing lymphangioleiomyomatosis, especially in women who were previously diagnosed with Tuberous Sclerosis Complex. All in all, if you are a woman in her menopause diagnosed with Tuberous Sclerosis Complex, you should screen yourself for Lymphangioleiomyomatosis.

Complications of Lymphangioleiomyomatosis

Lymphangioleiomyomatosis, like any other disease can have certain complications. Very rarely, some complications of lymphangioleiomyomatosis can be fatal for its sufferers.

Some of the complications of lymphangioleiomyomatosis are:

  • Angiomyolipomas and other tumors:  Women, who are the gender that is mostly affect by lymphangioleiomyomatosis, often get tumors in their kidneys which were caused by lymphangioleiomyomatosis called Angiomyolipomas. Sometimes, these tumors can rupture and cause internal bleeding which can be fatal. Lymphangioleiomyomatosis also causes the formation of tumors in the liver and in the lymph nodes.
  • Bloody Urine:  People who have lymphangioleiomyomatosis accompanied with angiomyolipomas often have problems with urination. Also, persons diagnosed with lymphangioleiomyomatosis often find they have blood in their urine, which sadly makes those persons think they have kidney cancer, although they do not have it.
  • Pleural Effusions:  Pleural effusions are one of the most serious complications of lymphangioleiomyomatosis. Pleural effusion occurs when excessive bodily fluids begin to store themselves in the area between the lungs and the chest wall. This causes a person with pleural effusion to experience shortness of breath. That happens because the lung affected by pleural effusion has less space to expand itself.
  • Enlarged Lymph Nodes:  Lymph node enlargement due to lymphangioleiomyomatosis usually occurs in the abdomen or the chest. In extremely rare cases, lymph nodes that were enlarged due to lymphangioleiomyomatosis occur in neck.
  • Pneumothorax:  Pneumothorax is the most dangerous and possibly fatal complication of lymphangioleiomyomatosis. This serious complication of lymphangioleiomyomatosis happens when air from the lungs escapes into the space between lung and the chest wall called pleura. Excessive air that collects in the pleura must be removed to prevent the fatal outcome.
  • Fluid Build-Up:  Patients with lymphangioleiomyomatosis often experience swellings in their pelvic area, ankles, feet, abdomen, and legs. Pain may be also accompanied with the swellings associated with lymphangioleiomyomatosis.

Coping with Lymphangioleiomyomatosis

People diagnosed with lymphangioleiomyomatosis welcome their diagnosis with shock at first. However, if you or your loved one is diagnosed with this illness, there is no reason to worry since the treatment of lymphangioleiomyomatosis has improved in the last few years.

The best way to cope with this rare diagnosis is by being emotionally supported by your family, friends and by joining a support group where you will meet other sufferers of this condition.

Recovery Period/Healing Time for Lymphangioleiomyomatosis

There is no recovery period for lymphangioleiomyomatosis since it is a incurable disease. In case people were advised to get a lung transplant due to lymphangioleiomyomatosis, the recovery period for the medical procedure is at least two months.

Written, Edited or Reviewed By:

, MD, FFARCSI

Last Modified On: July 22, 2017

Pain Assist Inc.

Pramod Kerkar
  Note: Information provided is not a substitute for physician, hospital or any form of medical care. Examination and Investigation is necessary for correct diagnosis.

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