Aagenaes syndrome
Other names[edit | edit source]
Cholestasis lymphedema syndrome; CHLS; LCS
Clinical features[edit | edit source]
- 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.
Cause[edit | edit source]
At least some cases of Aagenaes syndrome have been attributed to mutations in the LSC1 gene on chromosome 15q.
Inheritance[edit | edit source]
This condition is inherited in an autosomal recessive manner and is found mainly in individuals of Norwegian descent.
Geographic distribution[edit | edit source]
- 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.
Name[edit | edit source]
It is named after Øystein Aagenæs, a Norwegian paediatrician.It is also called cholestasis-lymphedema syndrome (CLS)
Symptoms[edit | edit source]
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[edit | edit source]
- Abdominal pain
- Abnormality of urine homeostasis
- Clay colored stools
- Biliary tract abnormality
- Fatigue
- Hepatomegaly
- Hyperlipidemia
- Jaundice
- Lymphedema
- Nausea and vomiting
- Neonatal cholestatic liver disease
- Abnormality of skin pigmentation
- Multiple lipomas
- Splenomegaly
Diagnosis[edit | edit source]
It is diagnosed through genetic testing to demonstrate mutations in LSC1 gene on chromosome 15q.
Treatment[edit | edit source]
There is no cure and treatment is supportive care.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Aagenaes syndrome is a rare disease.
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