Aagenaes syndrome

Aagenaes syndrome (also Cholestasis‑lymphedema syndrome, CHLS, LCS) is a rare genetically determined disorder characterized by idiopathic familial intrahepatic cholestasis (impaired bile flow through the intrahepatic bile ducts) combined with a congenital defect in the development of the lymphatic vessels. The cause is most commonly associated with a mutation in the LSC1 gene on the short arm of chromosome 15 (15q). The disease has been documented in several families in Norway and is otherwise almost unknown worldwide. Inheritance is autosomal recessive, meaning that two affected genes (one from each parent) are necessary for the disease to occur, although both parents are healthy carriers.

Symptoms

The syndrome manifests with low birth weight; patients may suffer from abdominal pain accompanied by more frequent vomiting. Affected individuals may have reduced intellect, i.e., varying degrees of intellectual disability.
The most serious complications result from impaired bile drainage from the liver, leading to jaundice, and from lymphatic system dysfunction, which causes lymphedema—swelling especially of the lower limbs. Long‑term impairment of bile flow begins to damage the liver and may progress to cirrhosis with all its complications. In addition to the symptoms mentioned above, affected individuals often develop hemangiomas.

Diagnosis

Suspicion may be raised based on the above symptoms, but the only reliable diagnostic method is genetic testing.

Treatment

Prevention of this congenital syndrome does not exist, and causal treatment is likewise unavailable. Patients with this diagnosis require long‑term follow‑up by a hepatologist. A gallbladder‑sparing diet (hepatoprotective therapy) is essential. In advanced liver cirrhosis, liver transplantation is often successful.

• bolesti brucha
• únava
• abnormality v homeostáze moču (problémy s močením)
• acholická stolica (bledá stolica ochudobnená od žlče)
• hyperlipidémia
• poruchy lymfatického systému
• opuchy dolných končatín (edémy)
• cholestáza - porucha odtoku žlče žlčovodmi
• hepatomegália (zväčšená pečeň)
• zlyhávanie pečene v pokročilých štádiách (častý je až prechod do cirhózy pečene)
• abnormálna pigmentácia kože