Learn About Lymphangioleiomyomatosis
Lymphangioleiomyomatosis (LAM) is a condition that affects the lungs, the kidneys, and the lymphatic system. The lymphatic system consists of a network of vessels that transport lymph fluid and immune cells throughout the body. Lymph fluid helps exchange immune cells, proteins, and other substances between the blood and tissues.
Mutations in the TSC1 gene or, more commonly, the TSC2 gene, cause LAM. The TSC1 and TSC2 genes provide instructions for making the proteins hamartin and tuberin, respectively. Within cells, these two proteins likely help regulate cell growth and size. The proteins act as tumor suppressors, which normally prevent cells from growing and dividing too fast or in an uncontrolled way.
LAM occurs in approximately 30 percent of women with tuberous sclerosis complex. Sporadic LAM, which occurs without tuberous sclerosis complex, is estimated to affect 3.3 to 7.4 per million women worldwide. This condition may be underdiagnosed because its symptoms are similar to those of other lung disorders such as asthma, bronchitis, and chronic obstructive pulmonary disease.
Sporadic LAM is not inherited. Instead, researchers suggest that it is caused by a random mutation in the TSC1 or TSC2 gene that occurs very early in development. As a result, some of the body's cells have a normal version of the gene, while others have the mutated version. This situation is called mosaicism. When a mutation occurs in the other copy of the TSC1 or TSC2 gene in certain cells during a woman's lifetime (a somatic mutation), she may develop LAM. These women typically have no history of this disorder in their family.
Loyola University Medical Center
Daniel Dilling is an Intensive Care Medicine specialist and a Pulmonary Medicine provider in Oakbrook Terrace, Illinois. Dr. Dilling is rated as an Elite provider by MediFind in the treatment of Lymphangioleiomyomatosis. His top areas of expertise are Lymphangioleiomyomatosis, Pulmonary Fibrosis, Idiopathic Pulmonary Fibrosis, Lung Transplant, and Gastrostomy. Dr. Dilling is currently accepting new patients.
Kazuhisa Takahashi practices in Hongo, Japan. Takahashi is rated as an Elite expert by MediFind in the treatment of Lymphangioleiomyomatosis. Their top areas of expertise are Lymphangioleiomyomatosis, Lung Cancer, Birt-Hogg-Dube Syndrome, Spinal Fusion, and Osteotomy.
Kai-feng Xu practices in Beijing, China. Xu is rated as an Elite expert by MediFind in the treatment of Lymphangioleiomyomatosis. Their top areas of expertise are Lymphangioleiomyomatosis, Birt-Hogg-Dube Syndrome, Pulmonary Alveolar Proteinosis, Endoscopy, and Lung Transplant.
Summary: Pulmonary lymphangioleiomyomatosis (LAM) is a destructive lung disease typically affecting women of childbearing age. Currently, there is no effective therapy for the disease and the prognosis is poor. This study is designed to determine the disease processes involved at the level of cells and molecules, in order to develop more effective therapy. Researchers intend to identify the proteins and ge...
Background: \- Lymphangioleiomyomatosis (LAM) is a rare type of lung disease that occurs almost exclusively in women. In LAM, muscle tissue grows in the lungs and starts to block the flow of air. It is a progressive disease, and in severe cases may require a lung transplant. One possible treatment to improve breathing in people with LAM is inhaled albuterol. Albuterol can be given in a metered dose inhaler (M...
Published Date: March 01, 2017
Published By: National Institutes of Health