Lymph vessels are small channels, like blood vessels, that carry a clear fluid called lymph. Lymphedema is a swelling caused by the abnormal buildup of lymph fluid in tissue.  As the fluid builds up, it causes swelling in the arms and legs. This buildup of fluid is due to a faulty lymph system or blockage of the lymph vessels. 

When an infant or child has lymphedema, it is called primary lymphedema.   

The two types of primary lymphedema are idiopathic (unknown cause) and hereditary. Hereditary lymphedema is present at birth and may be a link to other syndromes (anomalies) as well.  The most common form of primary lymphedema is called Milroy’s disease, or lymphedema praecox. This condition can be present at birth, or a child can begin to have symptoms during puberty.

We are closer to establishing the genetic basis for these disorders. Some mutations in the vascular endothelial growth factor receptor (VEGFR3) have been found, and others are being investigated.

Lymphedema related to a trauma, infection or surgical removal of lymph nodes is called secondary lymphedema. 

All patients with lymphedema should be evaluated by a genetic counselor. 

Congenital lymphedema, which is the rarest form of primary lymphedema, appears early in life. It generally involves more than one limb, but rarely extends above the knee.

Swelling enlarges at a slower rate than body growth. It becomes less pronounced with age, and only supportive therapy is required in two-thirds of cases. The remaining one-third of patients have a poor prognosis and frequently require interventions.

Lymphedema praecox, which is the most common form of primary lymphedema, is seen mostly in females. It occurs in older children and teens, and swelling usually begins at the same time as a child’s growth spurt.

The swelling goes all the way up the leg to the groin and is sometimes linked with skin and nail changes. The swelling may increase over time, resulting in limbs that are very enlarged. 

A doctor will ask questions about the child’s medical history as well as do a physical exam. A complete evaluation of the blood vessels is done to rule out other vascular abnormalities.  A variety of diagnostic testing can be used:

  • Doppler ultrasonography looks at the blood flow and pressure and is helpful in finding obstructions of the blood flow.
  • Computed tomography (CT) scan reveals areas of the lymphatic system that may be blocked.
  • Magnetic resonance imaging (MRI) takes a better look at the tissues and provides the ability for identification of the characteristics of lymphedema.
  • Lymphangiogram / lymphangiography is a special X-ray of the lymph nodes and lymph vessels.
  • Lymphangitis (inflammation of the superficial lymphatics)
  • Functional disabilities (such as difficulty in wearing shoes)
  • Cosmetic and psychological problems

Management of lymphedema consists primarily of supportive care. Although elevation of a limb is difficult to enforce in a child, it is often quite useful.

Supportive stockings and elastic garments worn throughout the day may be effective.  Treatment may also include complete decongestive therapy (CDT), which consists of manual lymphatic drainage, compression, exercises and skin care.

Skin care is extremely important for the prevention of infection. In the case of an infection, it should be treated right away with antibiotics and bed rest.

When supportive measures fail, and a limb becomes too heavy to maneuver during daily activities and/or when normal clothing or shoes cannot be worn, surgical options should be considered. Patients with recurrent cellulitis and lymphangitis may also benefit from surgical debulking procedures.

Last Updated 11/2015