Aagenaes syndrome

Aagenaes syndrome
File:Autosomal recessive - en.svg
Synonyms	Cholestasis-lymphedema syndrome
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Specialty	Medical genetics, Hepatology
Symptoms	Lymphedema, cholestasis, hepatomegaly, jaundice
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Mutations in the Lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1) gene
Risks	Family history of the condition
Diagnosis	Genetic testing, liver function tests, imaging studies
Differential diagnosis	Primary lymphedema, biliary atresia, Alagille syndrome
Prevention	N/A
Treatment	Symptomatic treatment, liver transplant in severe cases
Medication	N/A
Prognosis	Variable; depends on severity of liver disease
Frequency	Rare; more common in individuals of Norwegian descent
Deaths	Rare, usually due to complications of liver disease

Other names

Cholestasis lymphedema syndrome; CHLS; LCS

Autosomal dominant and recessive

Autosomal dominant and recessive

Clinical features

• 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

At least some cases of Aagenaes syndrome have been attributed to mutations in the LSC1 gene on chromosome 15q.

Inheritance

This condition is inherited in an autosomal recessive manner and is found mainly in individuals of Norwegian descent.

Geographic distribution

• 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

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. 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
• Fatigue
• Hepatomegaly
• Hyperlipidemia
• Jaundice
• Lymphedema
• Nausea and vomiting
• Neonatal cholestatic liver disease
• Abnormality of skin pigmentation
• Multiple lipomas
• Splenomegaly

Diagnosis

It is diagnosed through genetic testing to demonstrate mutations in LSC1 gene on chromosome 15q.

Treatment

There is no cure and treatment is supportive care.

See also

• Lymphedema-distichiasis syndrome
• Lymphedema praecox
• Blueberry muffin baby

NIH genetic and rare disease info

• NIH info on Aagenaes syndrome

Aagenaes syndrome is a rare disease.