Symptoms of Aagenaes syndrome | Dermatology

Aagenaes syndrome

What is Aagenaes syndrome?

Aagenaes syndrome, or lymphedema cholestasis syndrome (LSC1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities. Some cases of azine syndrome are said to be caused by mutations in the LS1 genome on chromosome 15q. This condition is inherited in an autosomal recessive fashion and is found primarily in people of Norwegian descent. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI. Neonatal cholestasis usually decreases in childhood in patients with azine syndrome, but it is intermittent in nature.

However, Aagenaes syndrome often gradually develops into cirrhosis of the liver and giant cell hepatitis, along with scarring of the portal tract tissue.

Symptoms and diagnosis of Aagenaes syndrome

According to the Human Phenotype Oncology (HPO) database, the most common symptoms of Agenesis syndrome are abdominal pain, swollen legs, obstructive liver disease, urinary homeostasis abnormalities, clay-colored (acholic) stools, and fatigue. Other symptoms include an enlarged liver, liver scarring, abnormal lipid metabolism, and bile duct abnormalities.

Unfortunately, there are currently no verified diagnostic tests for this condition. Aagenaes syndrome is diagnosed by evaluating symptoms and comorbidities such as lymphedema.

Research on Aagenaes syndrome

In the comprehensive genetic screening analysis of Bull et al. (2000), areas of similar feeling were identified in patients with Aagenaes syndrome. The most promising areas were mapped in large groups of Norwegian individuals, with DNA samples from 8 patients and 7 of their pathological relatives of the same ancestral lineage evaluated.

The results revealed strong similarities between markers D15S979 and D15S652 in patients with an area on chromosome 15q and the haploid genotype, a feature not present in unaffected relatives.

This finding suggests that all Norwegian patients with Aagenaes syndrome may be homogeneous with gene mutations latently inherited by common ancestors.

Find an expert to help you

If you need medical advice, you can seek doctors or other health professionals who have experience with this disease. You can find these specialists through articles published in law firms, clinical trials, or medical journals. You may also want to contact a university or tertiary medical center in your area, as these centers seek more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international experts. They may refer you to someone they know through meetings or research efforts. Some specialists may be willing to contact you or your local doctor by phone or email if you cannot travel to them for care.

You can find more tips in our guide on how to find a pathologist. We recommend that you explore the rest of this page to find resources to help you find experts.

To find medical professionals who specialize in genetics, you can ask your doctor for a referral, or you can search for yourself.

Managing Aagenaes syndrome

There are no established therapeutic options available for curing this disorder. Treatments mainly target specific symptoms, especially concerning lymphedema.

Living with a genetic or rare disease can significantly affect the daily lives of patients and their families. As there is a huge scope for further research towards finding a definitive cure for this ailment, community care, and support groups are of pivotal importance.

Support and advocacy groups can help patients connect with others with similar conditions. These groups provide patient-centered information and are the driving force behind research for better treatments and possible cures. Advisors in these groups help direct patients and their family members to research, resources, and services pertaining to this disorder.

Prognosis of Aagenaes syndrome

The disorder is idiopathic and familial in nature. The exact genetic cause is unclear. However, it is considered a legacy of regression. The gene is on chromosome 15q.

This condition is seen mainly in babies of Norwegian descent, with more than 50% of cases seen in southern Norway. However, it is also common in people from other European regions and the United States. 

Leave a Reply

Your email address will not be published. Required fields are marked *