An estimated 1 in every 200,000 Americans has lymphangioleiomyomatosis (LAM), a rare lung disease that disproportionately affects females. To this day, researchers are still learning new information about this condition. In fact, shares News-Medical, researchers recently found that lymphatic endothelial cells expressed themselves differently in lymphangioleiomyomatosis as compared to some other conditions like Kaposi’s sarcoma or tuberous sclerosis complex (TSC).

To begin, researchers were examining these lymphatic endothelial cells when they discovered a “mixed phenotype,” which refers to the different ways of expression. In addition to appearing as lymphatic cells, the cells also appeared as blood endothelial cells. Within the study findings, published in the American Journal of Respiratory Cell and Molecular Biology, the researchers also note that this “mixed phenotype” could be seen (albeit in a smaller percentage) within those with idiopathic pulmonary fibrosis.

This research was performed to develop a better understanding of the underlying mechanisms behind lymphangioleiomyomatosis. In understanding how the disease works and what its characteristics are, researchers believe that they can – in the future – create more personalized therapeutic solutions for patients.

About Lymphangioleiomyomatosis (LAM)

As described above, lymphangioleiomyomatosis is a rare lung disease that almost exclusively affects females, particularly those of child-bearing age. The LAM Foundation explains that the average age of diagnosis is 35, though the disease has now been identified in some post-menopausal females. Altogether, the LAM Foundation describes lymphangioleiomyomatosis as a disease:

characterized by an abnormal growth of smooth muscle cells, especially in the lungs, lymphatic system, and kidneys. Unregulated growth of these cells can lead to loss of lung function, accumulation of lymph rich-fluid in the chest and abdomen, and growth of tumors in the kidneys.

LAM may be sporadic (S-LAM) or tuberous sclerosis LAM (TSC-LAM), with the first being idiopathic (of unknown cause). Currently, there are no cures for LAM, though it can be treated with sirolimus, everolimus, or lung transplantation. Symptoms and characteristics associated with lymphangioleiomyomatosis include:

• Progressively worsening shortness of breath
• Pneumothorax
• Abnormal fluid collections in the chest and abdomen
• Cysts in the lungs
• Angiomyolipomas (tumors) on the kidneys, which may cause internal bleeding
• Chest pain
• A cough which may produce blood
• Destruction of lung tissue