title: Hereditary lymphedema, characteristics, and variations in 17 adult patients with lymphedema cholestasis syndrome 1/Aagenaes syndrome.
abstract: 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.
  
  
  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.
authors.affiliation: 1 Centre for Rare Disorders, Oslo University Hospital , Oslo, Norway .
authors.forename: Monica
authors.initials: M
authors.lastname: Drivdal
authors.forename: Carl-Erik
authors.initials: CE
authors.lastname: Slagsvold
authors.forename: Oystein
authors.initials: O
authors.lastname: Aagenaes
authors.forename: Bengt Frode
authors.initials: BF
authors.lastname: Kase
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000378:metabolism*; D015992:Body Mass Index; D001834:Body Water; D016022:Case-Control Studies; D002779:Cholestasis / Q000150:complications*; D003430:Cross-Sectional Studies; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008209:Lymphedema / Q000150:complications / Q000175:diagnosis / Q000209:etiology* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D011379:Prognosis; D055815:Young Adult
chemical_list: D015415:Biomarkers