[Hereditary intrahepatic cholestasis with lymphedema--Aagenaes syndrome].

Abstract

Hereditary intrahepatic cholestasis with lymph oedema is now a well defined autosomal recessive inherited syndrome. More than 75% of the known cases (about 40) are Norwegian, and most of these came from a few communities in the south-western part of Norway. Cholestasis is present prior to or shortly after birth. With modern treatment the cholestasis usually improves considerably during the first two years of life, but periods of recurrent cholestasis occur later. In some cases, lymph oedema is present at birth, but usually comes to light during childhood. Lymph oedema needs continuous treatment. As a rule, the prognosis for the liver disease is good, but cirrhosis has developed in about 15% of the Norwegian cases. As for the pathogenesis of the cholestasis, the hypothesis is that the cause is an anomaly of the lymph function.

• Authors: O Aagenaes, S Medbø
• Journal: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke (Tidsskr Nor Laegeforen) Vol. 113 Issue 30 Pg. 3673-7 (Dec 10 1993) ISSN: 0029-2001 [Print] Norway
• Vernacular Title: Arvelig intrahepatisk gallestase med lymfødem--Aagenaes' syndrom.
• PMID: 8278949 (Publication Type: English Abstract, Journal Article)

Topics

• Adult
• Child
• Cholestasis, Intrahepatic (diagnosis, epidemiology, genetics, therapy)
• Female
• Humans
• Lymphedema (diagnosis, genetics, therapy)
• Male
• Norway (epidemiology)
• Pedigree
• Prognosis
• Syndrome