In 2012, ISMETT was recognized as a Regional reference center for the treatment of rare diseases. Most of the pediatric pathologies treated at ISMETT are rare diseases, i.e., with a prevalence < 1:2000 individuals, according to the definition of the 1999-2013 Program of Community Action on Rare Diseases. Only some of them are included in the Ministerial decree 279/2001 and therefore recognized by the Italian government.

Overall, more than 500 chronic patients diagnosed with a rare disease underwent or are undergoing regular follow-up at ISMETT, and about one third of these with a recognized rare disease, and known to the Italian National Registry of Rare Diseases. ISMETT has progressively acquired the expertise and ability to attract out-of-Sicily Italian and international patients.

Main pediatric conditions treated at ISMETT:

• Main diseases included in the Ministerial decree 279/2001: biliary atresia, Wilson’s disease, Alagille’s syndrome, congenital liver fibrosis, primary sclerosing cholangitis, congenital Alfa1 antitrypsin deficiency, Crigler-Najjar syndrome, Budd-Chiari syndrome, Joubert’s syndrome, fasting atresia, cystic fibrosis-related liver disease, Caroli’s disease, progressive family cholestasis.
• Main diseases not included in the Ministerial decree 279/2001: autoimmune hepatitis, small duct sclerosing cholangitis, bile acid synthesis disorders, portal cavernoma, congenital anomalies of the portal venous system, choledochal cysts, duodenal stenosis.

This activity is complemented by the management and treatment of patients with fatty liver disease related or not related to obesity, metabolic syndrome and liver disorders secondary to metabolic disease, onco-haematological or rheumatic diseases.