Aagenaes syndrome

Aagenaes syndrome, also known as cholestasis-lymphedema syndrome, is a rare genetic disorder that begins in the neonatal period. It features intrahepatic cholestasis, a type of liver condition where bile does not flow normally. Over time, the liver issues may lessen or appear intermittently. In addition to liver problems, people with this condition experience severe chronic lymphedema, especially in the lower limbs. This condition can also lead to fat malabsorption and fat-soluble vitamin deficiencies, which may cause bleeding, rickets, and neuropathy. In about 25% of cases, cirrhosis develops during childhood or later in life.

Common signs include neonatal intrahepatic cholestasis that may improve or become intermittent with age. Severe chronic lymphedema, mainly affecting the lower limbs, is a major symptom. Many people also have fat malabsorption that can lead to failure to thrive, along with fat-soluble vitamin deficiencies that might result in bleeding, rickets, and neuropathy. In some cases, liver cirrhosis may develop.

Aagenaes syndrome is caused by genetic changes. Mutations in the LCS1 gene lead to the development of the condition. Since it is inherited, the syndrome appears in families and is part of a group of genetic disorders that affect liver function and lymphatic flow.

Information about treatment is currently limited for this condition.

The outlook for people with Aagenaes syndrome can vary. The liver issues may lessen with age in some cases, but there is a risk of developing complications such as cirrhosis. Regular monitoring is important as the course of the condition may differ from person to person.

Information about current research and future directions is currently limited for this condition.