Primary lymphedema

 

In some cases, lymphedema can occur from hereditary or genetic abnormalities that cause malformation of the lymphatic system. This is called primary lymphedema. Primary lymphedema can impact any of the body and may involve swelling in multiple limbs or body regions.

Primary lymphedema can be present at birth from genetic causes such as Milroy’s disease. It may also be associated with arterial-venous abnormalities (AV malformations) such as hemangioma, lymphangioma, Klippel Ternary, and Park-Weber Syndrome.

The most common form of primary lymphedema is lymphedema praecox, which appears during puberty, mostly in girls, and usually affects a lower extremity. A second form of primary lymphedema is lymphedema tarda, which begins later in life, typically after age 35, and can occur in both male and female adults.

Primary lymphedema is rare as a cause of lymphedema. Because of the linages between primary lymphedema and genetic conditions, individuals diagnosed with primary lymphedema should seek genetic counseling to determine whether additional testing is needed.