Cholestasis lymphedema syndrome; CHLS; LCS
- Aagenaes syndrome, or lymphedema cholestasis syndrome (LSC1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities.
- It 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.
At least some cases of Aagenaes syndrome have been attributed to mutations in the LSC1 gene on chromosome 15q.
This condition is inherited in an autosomal recessive manner and is found mainly in individuals of Norwegian descent.
- The condition is particularly frequent in southern Norway
- More than half the cases are reported from southern Norway
- It is also 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)
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. A common feature of the condition is a generalised lymphatic anomaly, which may be indicative of the defect being lymphangiogenetic in origin.
List of symptoms
- Abdominal pain
- Abnormality of urine homeostasis
- Clay colored stools
- Biliary tract abnormality
- Nausea and vomiting
- Neonatal cholestatic liver disease
- Abnormality of skin pigmentation
- Multiple lipomas
It is diagnosed through genetic testing to demonstrate mutations in LSC1 gene on chromosome 15q.
There is no cure and treatment is supportive care.
NIH genetic and rare disease info
Aagenaes syndrome is a rare disease.