What is lymphangiomatosis?
In medical terminology lymphangiomatosis (limf-an-jee-oh-mah-TOE-sis) means: lymphatic system (lymph) vessel (angi) tumor or cyst (oma) condition (tosis). Lymphatic vessels reach every part of the body except the central nervous system (the brain and spinal chord), which has its own specialized system. The lymphatic system has three main functions:
- to maintain fluid balance,
- to defend the body against disease by producing lymphocytes, and
- to absorb fats and fat soluble vitamins (A, D, E, and K) from the small intestine and transport them to the blood, bypassing the liver.
Lymphangiomatosis, like other lymphatic malformations, is thought to be the result of congenital errors of lymphatic development occurring prior to the 20th week of gestation.1Lymphangiomatosis is a condition marked by the presence of cysts that result from an increase both in the size and number of thin-walled lymphatic channels that are abnormally interconnected and dilated.1, 2, 3The condition may involve a single organ system; 75% of cases involve multiple organs.1 It typically presents by age 20 and, although it is technically benign, these deranged lymphatics tend to invade surrounding tissues and cause problems due to invasion and/or compression of adjacent structures.1, 4 The condition is most common in the bones and lung1, 4 and shares some characteristics with Gorham’s disease. Up to 75% of patients with lymphangiomatosis have bone involvement, leading some to conclude that lymphangiomatosis and Gorham’s disease should be considered as a spectrum of disease rather than separate diseases. 1, 5 When it occurs in the lungs, lymphangiomatosis has serious consequences and is most aggressive in the youngest children.1, 3 When the condition extends into the chest it commonly results in the accumulation of chyle in the linings of the heart and/or lungs.1, 3 Chyle is composed of lymph fluid and fats that are absorbed from the small intestine by specialized lymphatic vessels called lacteals during digestion. The accumulations are described based on location: chylothorax is chyle in the chest; chylopericardium is chyle trapped inside the sac surrounding the heart; chyloascites is chyle trapped in the linings of the abdomen and abdominal organs. The presence of chyle in these places accounts for many of the symptoms and complications associated with both lymphangiomatosis and Gorham’s disease. 1, 6 The incidence of lymphangiomatosis is unknown and it is often misdiagnosed. It is separate and distinct from lymphangiectasis, lymphangioleiomyomatosis (LAM), pulmonary capillary hemangiomatosis, Kaposi’s sarcoma, and kaposiform hemangioendothelioma. 3 Its unusual nature makes lymphangiomatosis (and Gorham’s disease) a diagnostic and therapeutic challenge. 3, 7 A multidisciplinary approach is generally necessary for optimal diagnosis and symptom management.
What causes lymphangiomatosis?
The cause, or etiology, of lymphangiomatosis is not yet known. As stated earlier, it is generally considered to be the result of congenital errors of lymphatic development occurring prior to the 20th week of gestation.1, 4 Because of the overlap in involved systems, appearance of the diseases on imaging, and the presence of a vascular endothelial growth factor (VEGF) some have concluded that lymphangiomatosis and Gorham’s disease should be considered as two forms of a single disease rather than two distinct conditions. 1, 5, 8 However, the root causes of these conditions remains unknown and further research is necessary.
Who has lymphangiomatosis?
Lymphangiomatosis can occur at any age, but the incidence is highest in children and teenagers. Signs and symptoms are typically present before the age of 20 and the condition is often under-recognized in adults. 1, 4
It strikes males and females of all races and exhibits no inheritance pattern.
The medical literature contains case reports from every continent.
Because it is so rare, and commonly misdiagnosed, it is not known exactly how many people are affected by this disease.