View source for Aagenaes syndrome

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==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 tracts]]<sup>1</sup>.
==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<sup>1,2</sup>. A common feature of the condition is a generalised lymphatic anomaly, which may be indicative of the defect being [[lymphangiogenetic]] in origin<sup>1</sup>.
==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 [[United States|U.S.]]<sup>2</sup>.
Also called cholestasis-lymphedema syndrome (CLS).

==References==
<sup>1</sup>Bull 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.

<sup>2</sup>Heiberg A (2001) Aagenaes syndrome: lymphedema and intrahepatic cholestasis.
Tidsskr Nor Laegeforen. 2001 May 30;121(14):1718-9.

[[Category:Immune system disorders]]
[[Category:Congenital disorders]]
[[Category:Disease]]


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