Primary Lymphedema of the Upper Extremity: Clinical and Lymphoscintigraphic Features in 22 Patients

Background: Primary idiopathic lymphedema is an uncommon condition that typically affects the lower extremity.  Patients have a malformed lymphatic system that causes subcutaneous fluid and adipose deposition. Rarely, the disease also has been described in the upper extremity.  The purpose of this study was to investigate a cohort of patients with primary arm lymphedema in order to better understand the disease.

Methods: Patients evaluated in our Lymphedema Program between 2008 and 2017 were reviewed for individuals with upper extremity primary lymphedema. Sex, age of onset, morbidity, associated features, and management were identified. Transit of radiolabeled tracer and dermal backflow on lymphoscintigraphy were recorded.

Results: Twenty-two patients out of 233 with primary lymphedema had upper extremity disease (9.4%). Eleven subjects were male. Age of onset was infancy (n=14), adolescence (n=5), or adulthood (n=3). The disease affected the left arm (n=11), right arm (n=8), or both upper extremities (n=3). Lymphoscintigraphy in 14 patients exhibited delayed transit of tracer and 2 illustrated dermal backflow. One-half of individuals also had primary lower extremity lymphedema (5 unilateral, 6 bilateral). None of the patients in the cohort exhibited a family history of lymphedema. Two individuals had Turner syndrome. Morbidity included: infection (n=5), systemic lymphatic anomalies (n=5), and lymphangiosarcoma (n=1).

Conclusions: The upper extremity is a rare location for primary lymphedema and patients often also have lymphedema of the legs. Compared to the lower extremity, primary disease of the arm is more likely to be associated with systemic lymphatic dysfunction and have a lower risk of familial transmission.