Adult-Onset Primary Lymphedema: A Clinical-Lymphoscintigraphic Study of 26 Patients

Jeremy A. Goss, MD, Reid A. Maclellan, MD, MMSc, and Arin K. Greene, MD, MMSc. Lymphhatic Research Biology 2019

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Adult-Onset Primary Lymphedema: A Clinical-Lymphoscintigraphic Study of 26 Patients

Jeremy A. Goss, MD, Reid A. Maclellan, MD, MMSc, and Arin K. Greene, MD, MMSc. Lymphhatic Research Biology 2019

Background: Primary lymphedema results from the anomalous development of the lymphatic system that typically presents during infancy, childhood, or adolescence. Adult-onset primary lymphedema is rare and has not been studied. The purpose of this investigation was to characterize patients with primary lymphedema that developed after the pediatric time period to better understand the condition.

Study Design: Patients treated in our Lymphedema Program between 2009 and 2018 were reviewed. Diagnosis was determined based on history, physical examination, and imaging studies. Patients with primary lymphedema developing in adulthood (>21 years) were identified. Sex, age of onset, location, severity, morbidity, family history, associated features, and lymphoscintigraphy findings were documented.

Results: Twenty-six patients (10%) of 259 with primary lymphedema developed the disease during adulthood. Sixteen individuals were female, and the disease occurred at an average age of 40 years (range, 24–72). It affected the lower extremity (85%) (unilateral 82%, bilateral 18%) or upper limb (15%) (unilateral 80%, bilateral 20%). Twenty-seven percent of patients suffered infections. Ninety-five percent of lymphoscintigrams exhibited delayed transit of radio labeled tracer and 73% showed dermal backflow. None of the patients had systemic lymphatic involvement or associated vascular anomalies. One patient had a family history of lymphedema.

Conclusions: Adult-onset primary lymphedema is typically unilateral, affects the lower extremity, and is not associated with systemic lymphatic anomalies; hereditary transmission is rare. Because adult-onset lymphedema is much less common than the pediatric condition, the disease should be confirmed with lymphoscintigraphy. Imaging of the axillary or inguinal nodes is also considered to rule out a lesion causing secondary lymphedema.

Main findings

  • This study had a small sample size.
  • Historically, the onset of primary lymphedema had been divided into one of three categories: congenital, praecox, or tarda. Because these periods do not have standardized definitions, the authors have advocated the use of biologically accepted terms to define age of onset (i.e., infancy, childhood, adolescence, adulthood). Adulthood is defined as age >21 by the American Academy of Pediatrics, the U.S. Department of Health, and the Food and Drug Administration.
  • They found 10% of patients with primary lymphedema developed the condition in adulthood.
  • Patients with the adult-onset disease have a much lower risk of bilateral leg involvement (18%) compared with the pediatric-onset population (52%).
  • Patients who develop swelling in adulthood may have a less severe developmental anomaly compared with children with the disease, and thus it takes longer for the lymphatic function to fail. This hypothesis is supported by a lymphangiographic investigation that showed patients who presented in adulthood had less severe lymphatic aplasia or hypoplasia compared with individuals who exhibited the condition in early childhood.
  • Because adult-onset lymphedema is the least common period to develop the condition the authors advocate for lymphoscintigraphy to confirm the disease.