Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome).
OBJECTIVE
To investigate the prognosis of liver disease in Aagenaes syndrome (lymphoedema cholestasis syndrome 1 (LCS1)), which is an autosomal recessive inherited syndrome consisting of neonatal cholestasis with intermittent cholestatic episodes in childhood into adulthood and development of lymphoedema. Forty Norwegian patients are known to have this condition, 25 of whom are alive. A clinical description of the liver disease is supplied with a case-control study.


METHODS
In this paper we review the course of the liver disease in the Norwegian cohort of patients and present results from a case-control study in the patients above 10 years of age. The case-control study was performed on 15 patients without clinical cholestasis (itching and sometimes jaundice) at the time of the study. An evaluation of 11 patients above 15 years of age without chronic biochemical cholestasis (increased alkaline phosphatase (ALP), gamma-glutamyl transferase (GGT) and/or serum bile acids) was also carried out. For each patient one randomly identified control person was included (15 in one study, 11 in the other).


RESULTS
Cirrhosis with either transplantation or death in infancy or early childhood occurred in six patients; slowly developing cirrhosis occurred in three patients. Two patients may be in the process of developing cirrhosis. Significantly increased ALP and GGT levels were found in patients with normal liver biochemistry in the preceding years when compared with the case control group. Additionally, albumin was found to be lower in older patients.


CONCLUSIONS
Compared with that for other types of hereditary neonatal cholestasis, patients with LCS1 have a relatively good prognosis. More than 50% can expect a normal life span.
Drivdal
Monica
M
Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway. monica.drivdal@uus.no
Trydal
Torleif
T
Hagve
Tor-Arne
TA
Bergstad
Ingunn
I
Aagenaes
Oystein
O
D000293:Adolescent; D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood; D001647:Bile Acids and Salts / Q000097:blood; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002779:Cholestasis / Q000235:genetics / Q000378:metabolism* / Q000401:mortality*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008103:Liver Cirrhosis / Q000209:etiology; D008209:Lymphedema / Q000235:genetics / Q000378:metabolism* / Q000401:mortality*; D008875:Middle Aged; D011379:Prognosis; D011897:Random Allocation; D012709:Serum Albumin / Q000032:analysis; D013577:Syndrome; D005723:gamma-Glutamyltransferase / Q000097:blood
D001647:Bile Acids and Salts; D012709:Serum Albumin; D005723:gamma-Glutamyltransferase; D000469:Alkaline Phosphatase