Aagenaes syndrome or lymphedema cholestasis syndrome (LSC1)

Aagenaes syndrome or lymphedema cholestasis syndrome (LSC1)   is a form of idiopathic familial intrahepatic cholestasis or a syndrome characterised by congenital hypoplasia of lymph vessels and lymphedema of the lower extremities , 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.

The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q. A common feature of the condition is a generalised lymphatic anomaly, which may be indicative of the defect being lymphangiogenetic in origin. 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. It is named after Øystein Aagenæs, a Norwegian paediatrician.

It is also called cholestasis-lymphedema syndrome (CLS)

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources.

Medical TermsOther NamesLearn More:HPO ID
80%-99% of people have these symptoms
Abdominal painPain in stomach[ more  ]0002027 
Abnormality of urine homeostasisPee issues[ more  ]0003110 
Acholic stoolsClay colored stools0011985 
Biliary tract abnormality0001080 
FatigueTired[ more  ]0012378 

Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can’t travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

References


  1. Dang S, Sigal Y, Davies D. Recurrent cellulitis in a case of Aagenaes syndrome. Clin Pediatr (Phila). 2009; http://www.ncbi.nlm.nih.gov/pubmed/19498211. Accessed 9/13/2012.
  2. Drivdal M, Trydal T, Hagve TA, Bergstad I, Aagenaes O. Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome). Scand J Gastroenterol. 2006; http://www.ncbi.nlm.nih.gov/pubmed/16635916. Accessed 9/13/2012.
  3. Cholestasis-Lymphedema Syndrome. Online Mendelian Inheritance in Man (OMIM). 2007; http://omim.org/entry/214900. Accessed 9/13/2012
  4. Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 978-1-4160-2999-1.
  5. ^ 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 Genet67 (4): 994–9. doi:10.1086/303080PMC 1287903PMID 10968776.
  6. ^ Heiberg A (May 2001). “Aagenaes syndrome: lymphedema and intrahepatic cholestasis”. Tidsskr nor Laegeforen121 (14): 1718–9. PMID 11446017.
  7. ^ “Øystein Aagenæs”.
  8. ^ Frühwirth, M.; et al. (Apr 2003). “Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome”. Journal of Pediatrics142 (4): 441–447. doi:10.1067/mpd.2003.148PMID 12712065.

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