Lymphedema is a disorder affecting the lymphatic system. The lymphatic system is responsible for circulating protein rich fluid (lymph) through a network of vessels and nodes. Any disorder in the circulation of lymph may cause edema or swelling of an affected part of the body. Lymphedema may be hereditary, also known as primary lymphedema, or secondary due to damage to the lymphatic system from surgery, radiation therapy, trauma or infection.
Primary Lymphedema
There are three forms of primary lymphedema:
Congenital hereditary lymphedema Type IA (Milroy disease)
The swelling/edema is present at or shortly after birth. Typically, the legs are most often affected. In some cases the genitals may also be affected. Additional complications may include upslanting toenails, small warty growths on the affected areas), abnormally large or prominent leg veins, and, in males, urethral abnormalities and the development of a fluid-filled sac along the spermatic cord of the scrotum (hydrocele).
Lymphedema praecox Type II (Meige disease)
This type of primary lymphedema develops around puberty, usually in females. This is the most common type of primary lymphedema. The legs are primary affected, but other areas of the body such as arms and face may also be affected. Some individuals may develop yellow nails.
Lymphedema tarda
Primary lymphedema occurring after the age of 35. The legs are most often affected.
Most cases of hereditary lymphedema type IA and type II are inherited as autosomal dominant traits. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child. Some cases of hereditary lymphedema type IA (Milroy’s disease) occur because of mutation in the FLT4 gene which encodes of the vascular endothelial growth factor receptor 3 (VEGFR-3) gene located on the long arm (q) on chromosome 5 (5q35.3).
Diagnosis
You/your child will meet with the VAC team during the initial clinic visit for a comprehensive review of the medical history, any imaging studies and/or laboratory tests that have been performed, and a complete physical examination. The medical specialists will then confer and diagnose the condition and propose a treatment plan. Diagnosis is based on:
- History and Physical Examination
Additional testing may include:
- Lymphoscintigraphy
- MRI
- MR Lymphangiography
Treatment
Although there is not cure of lymphedema, treatment is aimed at reducing swelling and preventing infection. This treatment includes wearing of custom compression garments to the affected area, adherence to a low sodium diet, weight management, exercise, and meticulous skin care. Complete decongestive therapy (CDT) may also be offered. This is a form of treatment in which specialized manual techniques (manual lymph drainage) is combined with multilayered compression bandaging to manage edema.