Aagenaes syndrome

Aagenaes syndrome
DiseasesDB	32129

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [2] Synonyms and keywords: Cholestasis-lymphedema syndrome,(CLS).

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

It is named after Oystein Aagenaes, a Norwegian paediatrician.

Pathophysiology

The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q^1,2. 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.

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.