Lymphedema is a swelling that is caused by the abnormal accumulation of lymph fluid in tissue, resulting from faulty development of the lymphatic system or blockage of the lymph vessels. It usually causes swelling of the extremities.
These vessels are small channels like blood vessels that contain a clear fluid called lymph. When lymphedema presents at birth or appears in childhood, it is referred to as primary lymphedema.
When its cause is attributed to trauma, infection, or surgical removal of lymph nodes, it is referred to as secondary lymphedema.
The two types of primary lymphedema are idiopathic (unknown cause) and hereditary. Hereditary lymphedema is caused by either an autosomal dominant or recessive inheritance. It can be associated with syndromes (other anomalies) as well. The most common form of primary congenital lymphedema is lymphedema praecox, or Milroy’s Disease. It is a hereditary from of lymphedema with autosomal dominant inheritance.
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.
All patients with lymphedema should be evaluated by a genetic counselor.
Show AllCongenital 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 surgical interventions.
Lymphedema praecox, which is the most common form of primary lymphedema, is seen mostly in females. It occurs in late childhood and adolescence, and swelling usually begins concurrently with a growth spurt.
It extends to the groin and is sometimes associated with skin and nail changes. A significant increase in swelling may occur over time, resulting in limbs that are markedly enlarged.
Diagnosis is established by a thorough clinical history and physical examination. Additionally, a complete evaluation of the blood vessels is carried out in order to rule out other vascular abnormalities. Diagnostic tests such as Doppler-ultrasonography and
computed tomography (CT) are often performed.
- Lymphangitis (inflammation of the superficial lymphatics)
- Cellulitis (skin and soft tissue infection)
- 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, combined with the overnight use of an intermittent pneumatic compression pump (device that moves fluid from the end of a limb upwards towards the heart) can also be very effective. Many patients follow daily massage regimens as well.
Skin care is extremely important, and infection should be promptly treated 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 surgery.
