Which clinical history findings are characteristic of primary lymphedema?

Updated: Mar 24, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
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Patients often report that chronic swelling of an extremity preceded lymphedema. This disease is often first noticed by the patient as an asymmetry or increased circumference of an extremity. As swelling slowly progresses, patients may have difficulty fitting into clothing. Once well established, lymphedema may cause fatigue related to the size and weight of the extremity, embarrassment in public, and severe impairment of daily activities. Recurrent bacterial or fungal infections are also common.

Eighty percent of patients present with lower extremity involvement, although the upper extremities, face, genitalia, and trunk can also be involved. The history confirms involvement of a distal extremity initially, with proximal involvement following. Patients with lymphedema often report painless swelling and leg heaviness.

Fevers, chills, and generalized weakness may be reported. Patients may have a history of recurrent episodes of cellulitis, lymphangitis, fissuring, ulcerations, and/or verrucous changes. Patients have a higher prevalence of bacterial and fungal infections.

Primary lymphedema

In primary lymphedema, patients have a congenital defect in the lymphatic system; therefore, the history of onset is more typical of the specific type. There is increasing evidence of hereditary lymphedema caused by CELSR1 loss-of-function variants. [49]

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