Rare Diseases
People affected by rare diseases, especially children, face specific health needs that often go unmet. Among the main challenges are the lack of information and the absence of specialized doctors and dedicated medical facilities.
To address these needs, UPMC has developed projects and programs dedicated to the diagnosis and treatment of rare pediatric diseases.
According to the Italian Ministry of Health, 20% of rare diseases affect children and adolescents under the age of 14. The most common of these are:
- Congenital malformations (45%).
- Endocrine, metabolic and autoimmune diseases (20%).
One of the most difficult challenges for patients and families is the long and complex journey to obtain a diagnosis. Despite rare diseases affect over 2 million people in Italy (source: Osservatorio Malattie Rare), they are difficult to diagnose and treat due to the limited number of professionals and of centers investing in research and innovation. At UPMC, we combine scientific research, innovation, and healthcare to provide concrete solutions and advanced therapeutic options. We offer highly specialized care using cutting-edge technologies, including advanced diagnostic tests such as angiography, scintigraphy, and endoscopy. Our commitment is to improve the quality of life of young patients and their families through a personalized and multidisciplinary approach.
Book an Exam or Visit
UPMC offers highly specialized medical consults and diagnostic tests for the diagnosis and treatment of rare abdominal diseases at the following facility:
IRCCS ISMETT-UPMC is a regional reference center for the prevention, diagnosis, and treatment of rare metabolic and autoimmune liver and biliary diseases in children. It is also a designated center for prevention, diagnosis, and treatment of congenital malformations of the liver and abdomen.
Available Tests and Procedures
Some rare diseases can cause congenital malformations, which must be promptly identified and treated to prevent serious complications. Using advanced technologies and a multidisciplinary team, UPMC provides highly specialized care tailored to the needs of patients with rare diseases.
The available services are exclusively for pediatric patients already in treatment at ISMETT-UPMC. Procedures offered include:
- Pediatric endoscopy.
- Interventional radiology.
- Transplants.
Pediatric Endoscopy
At UPMC, patients have access to expert endoscopists specialized in the diagnosis and treatment of gastrointestinal, pancreatic, and biliary tract diseases.
Endoscopic procedures are also performed on infants just a few months old. These procedures are carried out under general anesthesia with a dedicated anesthesiology team.
These include:
- Traditional diagnostic endoscopy.
- ERCP (Endoscopic Retrograde Cholangiopancreatography)
- EUS (Endoscopic Ultrasound).
Interventional Radiology
Interventional radiology allows to deliver minimally invasive surgery using image-guided techniques. These procedures are carried out under local anesthesia or deep sedation, ensuring a safe approach and minimizing risks for the patient. Through interventional radiology, various anatomical defects, often linked to congenital and rare diseases, can be diagnosed and corrected.
At UPMC, the following interventional radiology procedures are available:
- Angiography and diagnostic venography.
- Angioplasty.
- Positioning of vascular stents.
- Treatment of liver tumors.
- Biliary tract drainage.
- Bilioplasty.
- Abdominal organ biopsies.
- Caval stent placement.
Transplants
Organ transplantation involves replacing a malfunctioning organ, such as the kidney or liver, with a healthy organ from a donor. For pediatric patients (up to 18 years old), there is a single national waiting list. At ISMETT-UPMC, liver and kidney transplants are performed for children, using organs from both deceased and living donors. In the case of a living donor transplants, a family member, usually a parent, donates a portion of his or her liver or the kidney to the child.
Each transplant represents a significant multidisciplinary and organizational achievement. These highly complex surgical procedures require the collaboration of numerous specialists and a meticulously coordinated approach. For this reason, transplants can only be performed at centers of excellence, such as IRCCS ISMETT – UPMC.
The following services are available at our hospital in Palermo:
- Liver transplant.
- Kidney transplant.
Conditions Treated
At UPMC, we offer diagnostic and treatment services for numerous rare genetic diseases, as well as abdominal and thoracic conditions.
These include:
- Biliary Atresia.
- Jejunal atresia.
- Congenital Alpha-1 antitrypsin deficiency.
- Crigler-Najjar syndrome.
- Portal cavernoma.
- Bile duct cyst.
- Primary sclerosing cholangitis.
- Progressive familial cholestasis.
- Bile acid synthesis disorders.
- Autoimmune hepatitis.
- Cystic fibrosis-related hepatopathy.
- Congenital hepatic fibrosis.
- Wilson's disease.
- Caroli's disease.
- Autoimmune, oncological, or congenital liver diseases.
- Genitourinary tract diseases.
- Intestinal diseases.
- Rare renal and metabolic diseases.
- Congenital portal vein malformations.
- Alagille syndrome.
- Budd-Chiari syndrome.
- Joubert syndrome.
- Duodenal stenosis.
