Hepatic cholestasis blockage of bile in the liver results in lymphedema fluid retention and swelling in the lower extremities; neonatal cholestasis in patients with Aagenaes syndrome typically diminishes during childhood but remains intermittent in its nature, despite that often it develops into cirrhosis of the liver and giant cell hepatitis accompanied with scarring if portal tract tissues.
Most frequent symptoms of Aagenaes syndrome are classed as being swollen legs, abdominal pain, fatigue, clay coloured stools, obstructive liver disease, and abnormality of urine homeostasis, by The Human Phenotype Ontology database. Other symptoms of Aagenaes syndrome included liver scarring, biliary tract abnormalities, enlarged liver, and abnormal lipid metabolism. There isn’t a validated diagnostic test for the condition, and it is diagnosed by evaluation of symptoms and co-morbidities such as lymphedema.
Aagenaes syndrome is located on chromosome 15q, it is idiopathic and familial in nature, with the exact genetic causes remaining unknown and inconclusive, although it is considered to be recessively inherited. Aagenaes syndrome is mainly observed in infants with Norwegian origin, and is prevalent in individuals from European regions and in the USA as well.
DNA sampling from 8 patients and 7 of their non-symptomatic relatives from the same ancestral lineage were evaluated, revealing extensive similarities in alleles and haploid genotype of patients over a region on chromosome 15q between D15S979 and D15S652 markers, a characteristic that was absent in their unaffected relatives, suggesting that all Norwegian Aagenaes syndrome patients could be homozygous with similar gene mutations that were inherited in dormant form from a common ancestor.
Currently there aren’t any established therapeutic options for curing Aagenaes syndrome. Treatments used target specific symptoms, especially those concerning lymphedema. There is a huge scope for continued and further research towards finding an effective definitive cure for Aagenaes syndrome, community care and support groups are of great importance to connect patients with others that have similar conditions, to provide patient care information which is often the driving force behind research for improved treatments and cures.