IRCCS ISMETT is a Sicilian referral center for treatment of rare diseases. Most conditions managed by our Pediatric Program are classified as rare diseases, with a prevalence of less than 1 in 2,000 people, according to the 1999–2003 Community Action Programme on Rare Diseases. Only some of these conditions are included in the list established by Italian Ministerial Decree no. 279/2001, and are therefore officially recognized by the Italian government.
To date, more than 500 patients diagnosed with chronic rare diseases have received or continue to receive regular follow-up care at IRCCS ISMETT. Approximately one-third have a recognized rare disease and are registered with the Italian National Rare Diseases Registry. Over time, IRCCS ISMETT has developed highly specialized expertise, attracting patients from outside Sicily and from other countries.
The main conditions managed by IRCCS ISMETT’s pediatric program include:
- Main conditions included in Italian Ministerial Decree no. 279/2001: biliary atresia, Wilson disease, Alagille syndrome, congenital hepatic fibrosis, primary sclerosing cholangitis, congenital alpha-1 antitrypsin deficiency, Crigler-Najjar syndrome, Budd-Chiari syndrome, Joubert syndrome, jejunal atresia, cystic fibrosis-related liver disease, Caroli disease, and progressive familial intrahepatic cholestasis.
- Main conditions not included in Decree no. 279/2001: autoimmune hepatitis, small-duct sclerosing cholangitis, bile acid synthesis disorders, portal cavernoma, congenital portal vein malformations, choledochal cysts, and duodenal stenosis.
IRCCS ISMETT provides comprehensive care for patients with fatty liver disease, whether or not associated with obesity, as well as metabolic syndrome and liver diseases secondary to metabolic, oncohematologic, or rheumatologic disorders.
