Lymphedema Clinical Presentation

Updated: Apr 18, 2023
  • 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. [50]

Moreover, it is more common is for primary lymphedema to be associated with other anomalies and genetic disorders, including the following:

  • Yellow nail syndrome

  • Turner syndrome

  • Noonan syndrome

  • Xanthomatosis [51]

  • Hemangiomas

  • Neurofibromatosis type 1

  • Klinefelter syndrome

  • Congenital absence of nails

  • Trisomy 21

  • Trisomy 13

  • Trisomy 18

  • Distichiasis lymphedema syndrome [52, 53]

The last item above, distichiasis lymphedema syndrome, is a rare inherited disorder characterized by the presence of extra eyelashes (distichiasis) and swelling of the arms and legs (lymphedema). Swelling of the legs, especially below the knees, and eye irritation are common in people with this disorder. Spinal cysts (epidural), with or without other abnormalities of the spinal column, can accompany distichiasis lymphedema. This syndrome is inherited as an autosomal dominant genetic trait due to a mutation of the FOX2 gene. [23]

In congenital lymphedema, usually several other family members have a history of the disease.

Secondary lymphedema

In secondary lymphedema, the associated history should be more evident, based on the primary etiology. If due to filariasis, the history should include travel or habitation in an endemic area. Other patients should have a clear history of a neoplasm obstructing the lymphatic system, recurrent episodes of lymphangitis and/or cellulitis, obesity, trauma, or lymphedema resulting after surgery and/or radiation therapy. A recent history of varicose vein surgery also is reported.

In 2009, Lu et al noted 24 cases of localized lymphedema presenting as large, solitary polyps; solid or papillomatous plaques; pedunculated edematous lesions; or tumors that imitated sarcoma. Lesions most commonly occurred on the vulva. [54]


Physical Examination

The earliest symptom of lymphedema is nontender, pitting edema of the affected area, most commonly in the distal extremities. The face, trunk, and genitalia also may be involved. Radial enlargement of the area occurs over time, progressing to a nonpitting edema resulting from the development of fibrosis in the subcutaneous fat.

Involvement of the distal extremities is followed by proximal advancement. Patients have erythema of the affected area and thickening of the skin, which appears as peau d'orange skin and woody edema.

Elephantiasis nostra verrucosa

With long-term involvement, elephantiasis nostra verrucosa (ENV) develops, which is an area of cobble-stoned, hyperkeratotic, papillomatous plaques most commonly seen on the shins. The plaques of ENV can be covered with a loosely adherent crust, can be weepy or oozing a clear or yellow fluid, and/or can have a foul-smelling odor.

Fissuring, ulcerations, skin breakdown, and lymphorrhea can also be seen. Lymphorrhea involves the weeping or oozing of clear, yellow, or straw-colored fluids. Superinfection is common and can manifest as impetigo with yellow crusts.

In as study comparing arm and leg edema, it was found that leg lymphedema has worse symptoms and a greater number of infections than arm lymphedema. [55]

Cutaneous verruciform xanthomas

Four cases of cutaneous verruciform xanthomas in association with lymphedema have been cited in the literature. Reports have suggested that verruciform xanthomas may be a rare reactive phenomenon found in persons with common cutaneous conditions. Because verruciform xanthoma is considered by some authorities to be a reactive condition, the link between these 2 entities remains unclear at this time. [56, 57, 58]

Additional findings

A positive Stemmer sign (inability to pinch the dorsal aspect of skin between the first and second toes) may be elicited upon examination.

Other associated physical findings specific for the cause of secondary lymphedema and genetic disorders involving lymphedema may be noted upon examination.

Yellow nail syndrome, which involves the nails, lungs, and extremities, is a syndrome that has lymphedema as a component. [59]

Patients with congenital lymphedema may also present with recurrent cellulitis, papillomatosis, large caliber leg veins, and upsloping "ski-jump" toenails. [60]