Lymphangioleiomyomatosis (LAM)

Reviewed by Ann Mullen, RN, CNS, AE-C, CDE, Gregory P. Downey, MD
Lymphangioleiomyomatosis (pronounced lim-fan-gee-o-ly-o-my-o-ma-to-sis), or LAM, is a rare disease found almost exclusively in women of all races and ethnic backgrounds.

Out of 1 million women, LAM affects three to five who are between 30 and 70 years of age.

There are two types of LAM.

  1. Sporadic LAM is caused by changes to the TSC1 and the TSC2 genes that are restricted to specific LAM cells.

  2. Tuberous sclerosis LAM occurs with an inherited syndrome called tuberous sclerosis complex, which causes numerous noncancerous tumors to grow in the skin, brain, kidneys and other organs, and may cause developmental problems. Tuberous sclerosis LAM is also caused by changes in the TSC1 and the TSC2 genes and affects many cells and organs in the body.

LAM can affect the lungs, the kidneys and the lymphatic system. The lymphatic system includes the lymph nodes and lymphatic vessels. It functions like an elaborate drainage system to maintain balance in body fluids and to produce, store and carry white blood cells to fight infections and diseases.
 
The signs and symptoms of LAM often appear during a woman's thirties and can include breathing difficulty, chest pain and coughing, sometimes with blood. An overgrowth of LAM cells in the lungs creates cysts in the lungs, destroys normal lung tissue and often accumulates milky fluid around the lungs. This makes it hard for oxygen to move from the lungs throughout the body.

In most people with LAM, the disease slowly makes breathing worse over time. There is no cure, but treatments that are tailored to each individual can help manage symptoms and prevent complications. Medications such as sirolimus or everolimus can be very effective in improving breathing and slowing lung damage. Other treatments may include oxygen therapy, fluid removal and lung transplant.

 

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