Editor-In-Chief: C. Michael Gibson, M.S., M.D.  Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S
Synonyms and keywords: Cholestasis-lymphedema syndrome,(CLS).
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.
It is named after Oystein Aagenaes, a Norwegian paediatrician.
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
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.
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.
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