Lymphedema

Lymph vessels are small channels, like blood vessels, that carry a clear fluid called lymph. Lymphedema is a swelling caused by a buildup of lymph fluid in tissue that is not normal.  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 finding the genetic basis for these disorders. Some mutations in the vascular endothelial growth factor receptor (VEGFR3) have been found, and others are being looked into.

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

All patients with lymphedema should meet with a genetic counselor. 

Physical Description of Lymphedema

Congenital lymphedema, which is the rarest form of primary lymphedema, appears early in life. It most often 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. Only supportive therapy is needed in two-thirds of cases. The other one-third of patients have a poor prognosis and very often need interventions.

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

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

Diagnosis of Lymphedema

A doctor will ask questions about the child’s history and do an exam. A complete evaluation of the blood vessels is done to rule out other vascular abnormalities.  Other testing can be used as well, such as:

  • Doppler —   Ultrasonography looks at the blood flow and pressure. It is helpful in finding obstructions of the blood flow.
  • Computed tomography (CT) — Scan that shows parts of the lymphatic system that may be blocked.
  • Magnetic resonance imaging (MRI) — Takes a better look at the tissues and help to identify the features lymphedema.
  • Lymphangiogram / Lymphangiography — A special X-ray of the lymph nodes and lymph vessels.

Possible Complications with Lymphedema

  • Lymphangitis (inflammation of the superficial lymphatics)
  • Functional disabilities (such as problems wearing shoes)
  • Cosmetic and psychological problems

Treatment and Management of Lymphedema

Lymphedema is mostly managed with supportive care. Though elevation of a limb is hard to enforce in a child, it is often quite useful.

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

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

Sometimes supportive measures fail. A limb can become too heavy to move during daily activities and/or normal clothing or shoes cannot be worn. If this happens, surgical options should be considered. Patients with cellulitis and lymphangitis that comes back may also benefit from surgical debulking procedures.

Last Updated 12/2018

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