NORD gratefully acknowledges Henry D. Tazelaar, MD, Chair, Department of Laboratory Medicine and Pathology, Professor of Pathology, College of Medicine, Mayo Clinic Arizona, for assistance in the preparation of this report.
Diffuse pulmonary lymphangiomatosis is a disease in which the overgrowth (proliferation) of lymphatic vessels (lymphangiomatosis) occurs in the lungs, pleura and typically the surrounding soft tissue of the chest (mediastinum). Lymphatic vessels are part of the lymphatic system, which includes lymph nodes, the small nodules where certain white blood cells (lymphocytes) and other cells participate in the immune regulatory system of the body. When fluid leaves arteries and enters the soft tissue and organs of the body, it does so without red or white blood cells. This thin watery fluid is known as lymph. The lymphatic system consists of a network of tubular channels (lymph vessels) that transport lymph back into the bloodstream. Lymph accumulates between tissue cells and contains proteins, fats, and lymphocytes. As lymph moves through the lymphatic system, it passes through the network of lymph nodes that help the body to deactivate sources of infection (e.g., viruses, bacteria, etc.) and other potentially injurious substances and toxins. Groups of lymph nodes are located throughout the body, including in the neck, under the arms (axillae), at the elbows, and in the chest, abdomen, and groin. The lymphatic system also includes the spleen, which filters worn-out red blood cells and produces lymphocytes; and bone marrow, which is the spongy tissue inside the cavities of bones that manufactures blood cells.
Lymphangiomatosis can potentially affect any part of the body except the brain. The disorder can be widespread, affecting multiple areas simultaneously, or be isolated to one area (i.e. the lungs and chest). The specific symptoms and severity vary, depending in part upon the size and the specific location of the abnormalities. Diffuse pulmonary lymphangiomatosis causes functional impairment of the lungs and when the chest wall is involved, may be associated with disfigurement. The exact cause of diffuse pulmonary lymphangiomatosis is unknown.Introduction
There is a lack of consensus among the medical community as to the proper terminology for disorders and malformations associated with lymphatics. In general, however, a lymphangioma is a relatively localized collection of abnormal lymphatic vessels, lymphangiectasis refers to dilatation of lymphatics and lymphangiomatosis refers to an increase in lymphatic number. In some patients there is overlap between these and so exact classification becomes problematic. Lymphangiomatosis may also occur in association with better-characterized disease such as Gorham’s disease. Gorham’s disease is a form of lymphangiomatosis in which the lymphatics proliferate in bone, resulting in progressive bone loss. Another disease, which has a similar sounding name, is Lymphangioleiomyomatosis (LAM), a distinct disorder caused by proliferation of smooth muscle-like cells that, despite the similarity in the names, is unrelated to lymphangiomatosis. LAM occurs almost exclusively in women, while lymphangiomatosis is not as gender restricted.
NORD has separate reports on lymphatic malformations, Gorham’s disease, lymphangioleiomyomatosis, and several types of lymphangiectasia. (For more information on these disorders, choose the specific disorder name as your search term in the Rare Disease Database.). Lymphatic disorders are a rapidly growing disease family and information about these disorders and the terminology used to describe them are constantly changing. Physicians and researchers are working to create a standardized classification and nomenclature system for these disorders.
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