What Is Lymphangioleiomyomatosis?
Lymphangioleiomyomatosis (LAM) is a lung condition that occurs due to abnormal smooth muscle cell growth in the lymphatic system and the lungs. The lymphatic system is part of the body's immune system, a network of delicate tubes. The lymphatic system's blood vessels, tissues, and organs work together to move the lymph (a watery fluid) back into the bloodstream. The lymph fluid exchanges immune cells and other substances between the tissues. When the cells grow abnormally, then holes or cysts form in the lungs. As a result, there is airway obstruction in the bronchial tubes in people suffering from LAM. It usually affects women more than men and often occurs as a feature of the tuberous sclerosis complex, a benign or noncancerous condition characterized by tumors in the different parts of the body. If LAM occurs individually, it is known as isolated or sporadic LAM. The common age group is 20 to 40 years, and about 30 percent of women with tuberous sclerosis have LAM.
What Causes Lymphangioleiomyomatosis?
Lymphangioleiomyomatosis occurs due to a mutation in two genes. Genes are a part of the DNA (deoxyribonucleic acid) that is found in almost all cells of the body. The genes have different roles in each cell. Some genes give instructions to make proteins, and two such genes, TSC1 and TSC2 genes, provide instructions to make certain proteins.
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TSC1 Gene and TSC2 Gene - Also known as TSC complex subunit 1 and 2, gives instructions to make hamartin protein that interacts with a protein called tuberin. These two proteins control the size and growth of the cells. Both of these proteins prevent the cells from growing and dividing too fast and are also known as tumor suppressors. In LAM, the TSC2 gene is seen to be responsible for most of the disorders. If sporadic LAM occurs, then it is caused by a variant of the TSC1 gene. Due to this, some of the body’s cells have altered and normal versions, which is termed mosaicism. If a variant occurs in an extra copy of the TSC1 gene in the woman’s cells, then she may develop LAM.
What Are the Symptoms of Lymphangioleiomyomatosis?
Some of the common symptoms of this condition include:
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Wheezing (coarse or shrill whistle).
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Chest pain.
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Cough with blood streaks.
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Pneumothorax (also known as a collapsed lung that occurs when air enters between the chest and lung).
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Pleural effusion (build-up of excess fluid between the layers of pleura outside the lungs).
How Is Lymphangioleiomyomatosis Diagnosed?
Firstly the doctor will do a complete physical examination, as the symptoms of LAM are very similar to asthma or bronchitis. Then, to confirm the diagnosis, certain tests are performed that include:
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Computed Tomography (CT) Scan: A CT scan takes a clear and sharp image of the lungs to locate the cyst. A healthcare expert will ask the patient to lie down on the table of the machine. In a CT scan, the X-ray moves in a circular motion, capturing different angles or views of the affected site. Before getting the scan, precautions are taken, such as removing any earrings or metal jewelry. If the test is without contrast, the patient can eat and drink before the examination. The technologist who handles the machine will sit in a different room and guide through a speaker connected in both rooms. The X-ray will absorb the body tissue, which will be transferred to the computer. The scan takes 15 to 30 minutes to complete.
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Lung Function Test: In this test, the expert will ask the patient to breathe in a machine called a spirometer through which it is noted how much air is inhaled and exhaled and helps in determining how properly the lungs are functioning. It is a very simple procedure that is completed in 10 to 15 minutes.
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Blood Test: A hormone called VEGF-D (vascular endothelial growth factor) is measured through the blood test. If a cyst is present, the level of this hormone will be very high. A healthcare expert will take the blood test from the arm’s vein. A fine needle is inserted in the vein, and the blood is drawn out. The sample is collected in a test tube and then sent to a laboratory for further testing.
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Lung Biopsy: To confirm the diagnosis many times, a lung biopsy is done. A small piece of lung tissue is collected by two methods, transbronchial biopsy (a light tube inserted into the lungs through the windpipe to collect the sample) or video-assisted thoracoscopy (a surgical method where general anesthesia is given incision is given in the chest to collect the sample).
How Is Lymphangioleiomyomatosis Treated?
There is no permanent cure for this condition, but certain precautions can be taken to prevent the condition from worsening.
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Medications like Sirolimus are given to patients with symptoms of lung function disorder. This medication should only be given if prescribed by a doctor, and the dosage depends on the severity of the condition.
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Oxygen therapy is given to the patient with shortness of breath and airway obstruction.
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In severe cases, a lung transplant is done.
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Surgical procedures are done for various sittings to remove the excess fluid from the chest.
Conclusion
Lymphangioleiomyomatosis, or LAM, is a genetic condition mainly affecting the lungs. It occurs mostly in women and can cause complications if neglected for a long time. The symptoms may sometimes only appear in the late 40s in many cases. It may show symptoms like shortness of breath and chest pain. This condition is easily diagnosed through a CT scan, blood tests, lung function tests, and lung biopsy. A lung transplant is suggested in cases with severe organ damage, like the lungs. Though there is no proper treatment for this condition, if the symptoms are minimized, and a proper diet is taken to keep the lungs healthy, then an individual can live a long, healthy life.
