Cholestasis-Lymphedema Syndrome

Cholestasis-lymphedema syndrome (CLS), also called Aagenaes syndrome, is characterized by intrahepatic cholestasis and lymphedema (Drivdal et al. 2006). Aagenaes syndrome is named as it was first reported in southwest Norway in 1968 by Aagenaes et al. (1968). CLS is rare. It occurs less in than 1 per 1,000,000 population. However, it is common in Norway’s southernmost region (Dang et al. 2009). Cholestasis manifests as jaundice and itching at birth or early in the neonatal period (Aagenaes 1998). Cholestasis can last for about 1 to 7 years, during which periods of remission may occur (Drivdal et al. 2006). In addition, one or more episodes of cholestasis may occur in adulthood (Aagenaes et al. 1968). Cholestasis is associated with malabsorption, which is a cause of bleeding, rickets, anemia, peripheral neuropathy, and retarded growth (Aagenaes et al. 1968). Cholestasis typically resolves in early childhood and becomes episodic, while lymphedema usually begins at birth or in childhood and steadily worsens (Bull et al. 2000). Although lymphedema mainly affects the lower limbs, it can also influence the upper extremities, scrotum, periorbital soft tissues, small intestine, and thoracic soft tissues (Bull et al. 2000).