Global InformationAagenaes syndrome information
| Aagenaes syndrome | |
|---|---|
| Other names | Aagenæs syndrome, Cholestasis-lymphedema syndrome |
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| Aagenaes syndrome is inherited in an autosomal recessive manner | |
Aagenaes syndrome is 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.[1][2]
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 lymphoedema from birth or childhood caused by hypoplasia of the lymphatic vessels in origin1. Approximately one hundred people with this disease are known.[3] The condition is particularly frequent in southern Norway, where more than half the cases are reported, but it is found in patients in other parts of Europe and the United States.[4] It is named after Øystein Aagenæs, a Norwegian paediatrician.[5] It is also called cholestasis-lymphedema syndrome (CLS).[6]
The first case of cholestasis usually improves spontaneously during preschool and early school age and returns at various intervals of two to six months.[3] The severity of the disease varies in these patients, with some even experiencing complete liver failure. In these cases, liver transplantation is necessary.[3][7] Untreated cholestasis is accompanied by jaundice, itching, malabsorption of fat and fat-soluble vitamins. This can lead to skeletal abnormalities and a higher susceptibility to bleeding.[3] In early childhood and adolescence, lymphedema most often develops in all patients' lower limbs, but the upper limbs or chest are no exception.[3][7] Untreated lymphedema can cause chronic tissue damage.[3]
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
- ^ Bull LN, Roche E, Song EJ, Pedersen J, Knisely AS, van Der Hagen CB, Eiklid K, Aagenaes O, Freimer NB (Oct 2000). "Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q". Am J Hum Genet. 67 (4): 994–9. doi:10.1086/303080. PMC 1287903. PMID 10968776.
- ^ a b c d e f Iversen, Kristin; Drivdal, Lill Monica; Billaud Feragen, Kristin J.; Geirdal, Amy Østertun (2018-07-25). "Quality of life in adults with lymphedema cholestasis syndrome 1". Health and Quality of Life Outcomes. 16 (1): 146. doi:10.1186/s12955-018-0972-1. ISSN 1477-7525. PMC 6060525. PMID 30045736.
- ^ Heiberg A (May 2001). "Aagenaes syndrome: lymphedema and intrahepatic cholestasis". Tidsskr Nor Laegeforen. 121 (14): 1718–9. PMID 11446017.
- ^ "Øystein Aagenæs".
- ^ Frühwirth, M.; et al. (Apr 2003). "Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome". Journal of Pediatrics. 142 (4): 441–447. doi:10.1067/mpd.2003.148. PMID 12712065.
- ^ a b Atneosen-Åsegg, Monica; Melheim, Maria; Almaas, Runar (2020-09-15). "MicroRNA in dried blood spots from patients with Aagenaes syndrome and evaluation of pre-analytical and analytical factors". Pediatric Research. 89 (7): 1780–1787. doi:10.1038/s41390-020-01153-3. ISSN 0031-3998. PMID 32932426. S2CID 221745438.