BACKGROUND: The characterizations of primary lymphedemas in different hereditary 
diseases are often published as case reports. In this study, 17 out of 20 
Norweigian adult patients with lymphedema cholestasis syndrome 1 (LCS1)/Aagenaes 
syndrome were examined. The patients exhibited lymphedema and sporadic 
cholestasis. Individual clinical variations are described.
METHODS AND RESULTS: Lymphedema was classified from Grade I to IV by clinical 
examinations and ultrasound B-mode scanning. To support the clinical findings, 
direct segmental multifrequency bioelectrical impedance analysis (DSM-BIA) was 
included and was compared to healthy matched controls. The lymphedema was 
similar to other hereditary lymphedemas, with more pronounced fluid retention in 
the lower extremities. It was generally more extensive, as it also included 
lymphedema in the arms, face, and trunk. Limited tissue fibrosis was observed, 
even after long-standing lymphedema.
CONCLUSIONS: Approximately one-third of the patients had severe forms of 
lymphedema in the limbs (grades III and IV) and their conditions required close 
followup. A more frequent use of compression in the upper extremities is 
advised.