What is Aagenaes Syndrome?
World-wide over half of the cases of Aagenaes Syndrome are found in the southern regions of Norway, while still others are found in Europe and the United States. Aagenaes Syndrome was discovered in 1968 by a Norwegian pediatrician and is characterized by a blockage of bile from the liver. This blockage called cholestasis
creates a condition in which bile accumulates within the liver.
What are the symptoms of Aagenaes Syndrome?
- Abdominal pain
- Abnormality of urine homeostasis
- Cholic stools (Clay-colored stools)
- Biliary tract abnormality
- Enlarged liver
- Nausea and vomiting
- Neonatal cholestatic liver disease
What causes Aagenaes Syndrome?
The direct link to a genetic cause for Aegenaes Syndrome has not been established, but it is known that it is inherited in an autosomal recessive manner
. Diseases inherited in a autosomal recessive manner are diseases that were inherited by the genes of both parents, neither of which have been affected by the disease … meaning two carriers. The mutation for Aagenaes Syndrome is located on the chromosome 15q and found mainly in individuals of Norwegian descent.
How is Aagenaes Syndrome diagnosed?
Current diagnostic tests are unable to detect Aagenaes Syndrome. Symptom evaluation by a health care provider and the existence of co-morbidities such as lymphedema aid in determining a clear diagnosis.
What are the treatments for Aagenaes Syndrome?
Aagenaese Syndrome doesn’t have a treatment option available. Most treatment efforts focus on specific symptoms of the disease. Lymphedema gets a lot of the attention in treating patients with Aagenaes Syndrome.
Where can I find out more about Aagenaes Syndrome?