AAGENAES SYNDROME: WHAT IS AAGENAES SYNDROME?
Definition: What is "Aagenaes syndrome"?
Aagenaes syndrome is a condition which is characterized by inborn hypoplasia of the lymph vessels. This eventually causes recurring cholestasis on the formative years lymphedema on the legs. This could develop into hepatic cirrhosis & giant cell hepatitis (which could occur with portal tract fibrosis). The name of Aagenaes syndrome was derived from a pediatrician in Norway named Oystein Aagenaes. The name was finalized in 1968 when the condition was first described by Aagenaes. It is sometimes called cholestasis-lymphedema syndrome or simply CLS.
The genetic foundation is still unknown but it is an autosomal recessive condition which is inherited. The most common trait of the syndrome is a widespread lymphatic defect. It is believed that people who marry among their own tend to have a bigger chance of producing children that have the syndrome.
It is said that the condition is prevalent in Norway (one half of the total number of cases were from this place). The other half of the reported number of cases is found in other European countries & also the United States. It is reported as a rare disease in the US because it affects less than 200,000 of their population.
Characteristics & Features
Soon after the birth of an afflicted infant, it has been observed that jaundice would appear & this becomes a recurring situation. Sometimes the jaundice disappears but in most episodes of the patient's life, it could recur. The legs develop edema during school age & could progress as the patient ages. The evidence of marriage within the same circle of families could be a good source of this syndrome (e.g. cousins who marry one another).
Here are some reported cases of the Aagenaes syndrome: The first case was in 1968 when Aagenaes first observed & made a record of the syndrome affecting a child which soon progressed. He also noted the presence of jaundice. By the year 1974, Aagenaes recorded an additional 2 unconnected families. It was also on this year that he observed that Norwegians have more cases of the syndrome. A British case was reported in 1997 where the patients are the mother & her daughter from a nonconsaguineous family. It was the first case where the patients were not from Norway. 1998 marked the year of further studies of the condition wherein follow up cases have been reviewed. In 2001, it was concluded that the disease is resident on lymphangiogenesis.