Aagenaes Syndrome
What is Aagenaes Syndrome?
Aagenaes syndrome, also known as lymphedema-cholestasis syndrome (LCS), is a rare genetic disease characterized by a reduced size and number of the lymph vessels. Lymph vessels carry a protein-rich fluid called lymphatic fluid. People with Aagenaes syndrome suffer from lymphedema, in which lymph fluid builds up in tissues of the body, causing the affected area to swell.
The malfunction of the lymph nodes can also cause cholestasis, the obstruction of the flow of the bile. Bile is a fluid produced in the liver that aids in digestion. Bile helps to incorporate the fat that we eat, if the bile flow is not enough, there might be a deficiency of the vitamins that are dissolved in this fat. Vitamin treatments can help with this.
The disorder can sometimes cause scarring of the liver (cirrhosis) later in childhood or during life.
This condition has been reported more often in Norway. It is caused by mutations in the LSC1 gene, on chromosome 15q.
Aagenaes syndrome, also known as lymphedema-cholestasis syndrome (LCS), is a rare genetic disease characterized by a reduced size and number of the lymph vessels. Lymph vessels carry a protein-rich fluid called lymphatic fluid. People with Aagenaes syndrome suffer from lymphedema, in which lymph fluid builds up in tissues of the body, causing the affected area to swell.
The malfunction of the lymph nodes can also cause cholestasis, the obstruction of the flow of the bile. Bile is a fluid produced in the liver that aids in digestion. Bile helps to incorporate the fat that we eat, if the bile flow is not enough, there might be a deficiency of the vitamins that are dissolved in this fat. Vitamin treatments can help with this.
The disorder can sometimes cause scarring of the liver (cirrhosis) later in childhood or during life.
This condition has been reported more often in Norway. It is caused by mutations in the LSC1 gene, on chromosome 15q.
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Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
- Review the informed consent.
- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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