Lymphedema

What is lymphedema?

Accumulation of protein-rich fluid in the interstitial space due to lymphatic dysfunction.

How common is lymphedema?

Approximately 150 million people are affected worldwide.

What structures are most commonly involved?

The extremities, followed by the genitalia.

Does lymphedema affect the superficial or deep areas of the extremity?

Only the subcutaneous tissues are involved.

What is the natural history of lymphedema?

Adipose and fibrous tissues are produced which cause enlargement of the limb.

How is lymphedema classified?

Primary or secondary.

Types of lymphedema. (Left) A 24-year-old female developed primary lymphedema of the lower extremity during adolescence. (Right) A 70-year-old female with upper extremity lymphedema following mastectomy, axillary lymphadenectomy, and radiation for breast cancer.

What is primary lymphedema?

Lymphedema that results from a congenital malformation of the lymphatic system.

How common is primary lymphedema?

Rare. The prevalence is approximately 1:100,000.

When does primary lymphedema present?

Males usually present in infancy, females typically develop swelling in adolescence.

What structures are most commonly affected by primary lymphedema?

Lower extremities (90%), genitalia (16%), and upper extremities (10%).

Is there a genetic cause of primary lymphedema?

Yes, mutations in VEGFR3, FOXC2, SOX18, and CCBE1 cause some familial/syndromic forms of lymphedema.

What is Milroy disease?

Lymphedema of one or both lower extremities present at birth, with either a family history of disease or a mutation in VEGFR3.

What is Meige disease?

Lymphedema of one or both lower extremities presenting in adolescence with a family history of the disease; a genetic mutation has not been identified.

What is secondary lymphedema?