Lymphedema is accumulation of lymphatic fluid (rich in proteins, cholesterol, antibodies, etc.) within tissues, without normal drainage back into the blood circulation. It can be caused by abnormal formation of lymphatic channels in-utero, by mechanical interruption or blockage of lymphatic channels later in life or by dysfunctional production and circulation of lymphatic fluid.

It may be localized (affecting a specific area of the body – usually the legs), or generalized (affecting whole body). Lymphedema can be associated with other vascular anomalies (usually venous lymphatic malformations), with overgrowth or other medical complications as part of a genetic syndrome. It is progressive as more accumulation of fluid without proper drainage may cause more dysfunction of the affected areas.

Signs and Symptoms

Characteristics may include:

  • Swollen, heavy limbs
  • Difficulty walking or using the arm/hand affected by lymphedema
  • Pain and discomfort
  • Skin becomes thick, firm and discolored
  • Proteins and fat particles accumulate in the areas of lymphedema and are not able to feed the remaining tissues leading to muscle wasting
  • Repeated skin and deeper infections in the affected area
  • Leak of lymphatic fluid from lymphatic vesicles (looking like warts)
  • Prolonged untreated lymphedema may increase the risk of developing cancer in the area


There have been many genes identified that cause inherited lymphedema (FLT4, VEGFC, GATA2, etc.). In approximately 30% cases, one of these genes may be found. Most are germline mutations meaning that they are transmitted from generation to generation within the family.

We usually recommend and offer genetic testing and counseling to the siblings and parents at least. By recognizing the genetic syndrome it allows early screening and prevention of known complications.

Diagnosis and Tests

Diagnosis and tests may consist of:

  • Physical exam
  • Blood work (sometimes lymphedema may be caused by infection with a parasite; will check level of proteins, cholesterol and vitamins in the blood)
  • Imaging
    • Nuclear lymphoscintigraphy to evaluate the peripheral lymphatics (legs and arms)
  • Magnetic Resonance Lymphagiogram (MRL) to evaluate the central lymphatic systemic (within the abdomen and chest)


Treatment goals include:

  • improving the lymphatic drainage from the affected area,
  • correction of the interruption/ blockage of the central lymphatics,
  • screening and management of the other possible complications if lymphedema is part of a genetic syndrome and supportive care.

Care may include:

  • Complete decongestive lymphatic therapy (lymphatic massage and compression garments)
  • Surgical intervention to repair the interruption or reconnect the lymphatics to the veins (microsurgery)
  • Supportive care (infections management, mobility improvement via physical therapy, etc.).
  • Skin care (if already affected by prolonged lymphedema)