Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
Aagenaes syndrome
Introduction
Synonyms and keywords: Cholestasis-lymphedema syndrome,(CLS).
Overview
Overview
A syndrome characterised by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts1.
Historical Perspective
Historical Perspective
It is named after Oystein Aagenaes, a Norwegian paediatrician.
Pathophysiology
Pathophysiology
The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q1,2. A common feature of the condition is a generalised lymphatic anomaly, which may be indicative of the defect being lymphangiogenetic in origin1.
Epidemiology and Demographics
Epidemiology and Demographics
The condition is particularly frequent in southern Norway, where more than half the cases are reported from, but is found in patients in other parts of Europe and the U.S.2.
References
References
1Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, van Der Hagen CB, Eiklid K, Aagenaes O, Freimer NB (2000) Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q. Am J Hum Genet. 2000 Oct;67(4):994-9. Epub 2000 Aug 30.
2Heiberg A (2001) Aagenaes syndrome: lymphedema and intrahepatic cholestasis. Tidsskr Nor Laegeforen. 2001 May 30;121(14):1718-9.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S