Aagenaes Syndrome- Information, Treatment, Prevention

By: Juliet Cohen

Aagenaes syndrome is due to congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant-cell hepatitis with fibrosis of the portal tracts. The genetic cause is unknown, but it is autosomal recessively inherited and the gene is located to chromosome 15q1,2. Patients with Aagenaes syndrome suffer severe neonatal cholestasis that usually lessens during early childhood and becomes episodic; they also develop chronic severe lymphedema. The genetic cause of Aagenaes syndrome is unknown. Furthermore, signs and symptoms of Aagenaes syndrome may vary on an individual basis for each patient. Clinical features of Aagenaes syndrome are include jaundice, normal appetite but limited weight gain in addition to edema.

The 'prognosis' of Aagenaes syndrome usually refers to the likely outcome of Aagenaes syndrome. It causes portal hypertension which my be present at birth but it is recognized after years when it has produce complications of portal hypertension, especially bleeding esophageal varices. The prognosis of Aagenaes syndrome may include the duration of Aagenaes syndrome, chances of complications of Aagenaes syndrome, probable outcomes, prospects for recovery, recovery period for Aagenaes syndrome, survival rates, death rates, and other outcome possibilities in the overall prognosis of Aagenaes syndrome. The condition is particularly frequent in southern Norway, where more than half the cases are reported from, but is found in patients in other parts of Europe and the U.S.

Aagenaes syndromeis characterized by prenatal growth deficiency, brachycephaly, deformities of the humerus, radius and ulna, short and broad hands, hypoplastic maxilla, and mental retardation. It is not a cystic disease because the cysts do not communicate with the biliary tree. It is not cirrhosis because there are no regenerative nodules and no active septa with inflammatory cells. It is not Caroli's' syndrome because in Coroli's the dilated bile ducts are not accompanied by aggressive fibrosis and there is no portal hypertension. The initial basic disorder is probably proliferation and dilatation of portal bile ducts. Other features can be retinal pigmentation anomalies, optic atrophy, strabismus, nystagmus, cleft lip and palate, cardiovascular anomalies, hernia, abnormal nipples, and fits.

Aagenaes syndrome is named after oystein aagenaes, a Norwegian pediatrician. Aagenaes pointed out that the common denominator of the syndrome that bears his name is a 'relatively generalized' lymphatic anomaly. This appears to indicate that the defect resides in lymphangiogenesis.The development of small lymphoid vessels is probably deficient around the small biliary tracts and in general. Patients experienced jaundice soon after birth and edema of the legs was caused by hypoplasia of the lymphatics. Liver histology showed giant cell transformation in infancy and some fibrosis or cirrhosis in later childhood. Treatment will include therapy for lymphedema as well as dietary considerations such as a low fat diet, supplement of fat soluble vitamins and other medications indicated for complications. Liver transplantation is the another treatment of Aagenaes syndrome.

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