The hallmark of Lymphangioleiomyomatosis is the thickening of the areas that are surrounding the blood vessels, breathing tubes and lymph channels as well as the lining of the lung. This is the result of an abnormal growth of smooth muscle cells.
Lymphangioleiomyomatosis is not contagious. When linked with tuberous sclerosis complex (TSC), lymphangioleiomyomatosis is an inherited disorder that happens when one of the parents pass on an abnormal gene to their children.
When lymphangioleiomyomatosis is present alone, it is related to the alterations of certain genes that are an important part of cell growth.
How Lymphangioleiomyomatosis affects your body?
Lymphangioleiomyomatosis mainly affects your lungs and your breathing. Occasionally it is associated with another disorder called tuberous sclerosis complex (TSC).
When Lymphangioleiomyomatosis is a part of the tuberous sclerosis complex (TSC), it is more common to have kidney tumors called angiomyolipomas and involvement of the brain that require monitoring and may cause seizure.
What causes Lymphangioleiomyomatosis?
Lymphangioleiomyomatosis is caused by abnormal growth of the smooth muscle cells in the lungs. The triggers for this procedure are not well-understood, but hormone therapy can aggravate the process.
How Lymphangioleiomyomatosis is diagnosed?
An x-ray is not sufficient to diagnose Lymphangioleiomyomatosis, so your doctor will order a CT scan of the lungs that will identify characteristic cysts. Abdominal ultrasound may reveal tumors in the kidney, liver, or spleen.
Laboratory tests may be ordered for levels of vascular endothelial growth factor-D (VEGF-D) which may be elevated in Lymphangioleiomyomatosis.
Your doctor may also order breathing tests to assess lung function. Open-lung biopsy or bronchoscopy may be required to look at lung tissue/cysts.
What are the symptoms of Lymphangioleiomyomatosis?
The diagnosis of lymphangioleiomyomatosis is strongly suspected when a young female presents with any of the below symptoms. Lymphangioleiomyomatosis may have a wide range of symptoms including:
- Shortness of breath, especially with exercise
- Bloody phlegm
The most common presentation is a “pneumothorax,” where the lung “pops” and air accumulates around the lung causing it to collapse. In patients with lymphangioleiomyomatosis, this occurs because of the bursting of the cysts which are formed in the lungs. Pneumothorax causes sharp chest pains and difficulty with breathing.
Lymphangioleiomyomatosis can also be associated with accumulation of a milky fluid around the lungs called “chyle.”
How Lymphangioleiomyomatosis is treated?
Currently, no treatment is available to stop the growth of the cysts that occur in Lymphangioleiomyomatosis. Most treatments for Lymphangioleiomyomatosis are aimed at easing symptoms and preventing complications. The available treatment options include:
- Oxygen therapy
- Pulmonary rehabilitation
- Removal of air or fluid from lungs or abdomen to help you breathe better
- Treatment and surveillance of osteoporosis (weak bones)
- Standard vaccinations to prevent respiratory infections
- Bronchodilators help in opening airways and improve breathing