Cholestasis-lymphedema syndrome

Cholestasis-lymphedema syndrome, also known as Aagenaes syndrome, is a rare inherited disorder characterized by two main features: neonatal cholestasis (impaired bile flow from the liver) and lymphedema (swelling caused by dysfunction of the lymphatic system). The condition was first described by Norwegian pediatrician Øystein Aagenaes in 1968. The cholestasis typically presents in the neonatal period and may be severe, leading to jaundice, pale stools, dark urine, hepatomegaly, and fat-soluble vitamin malabsorption. In many patients, the cholestasis is episodic and may improve during childhood, though some individuals develop chronic liver disease with hepatic fibrosis or cirrhosis. The lymphedema usually affects the lower extremities and may become apparent in childhood or later, often becoming a chronic and progressive problem. The syndrome primarily affects the hepatobiliary system and the lymphatic system. The underlying cause involves mutations in genes related to lymphatic function, and the condition has been linked to a locus on chromosome 15q. More recently, mutations in the LBR (lamin B receptor) gene and other candidate genes have been investigated. The majority of reported cases originate from southern Norway, though cases have been identified in other populations as well. Treatment is primarily supportive and symptomatic. Management of cholestasis includes ursodeoxycholic acid, supplementation of fat-soluble vitamins (A, D, E, K), and dietary modifications including medium-chain triglyceride supplementation. In severe cases of liver disease, liver transplantation may be considered. Lymphedema is managed with compression therapy, physical therapy, and meticulous skin care to prevent infections. There is currently no cure for the condition, and long-term follow-up by hepatologists and lymphedema specialists is recommended.

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