Rare Diseases

UPMC has developed projects and programs dedicated to the treatment of rare diseases, especially the treatment of rare diseases in children. People with rare diseases have specific health needs that often remain unmet. The reasons are many, however, lack of information and available referral doctors is a primary one.

The most difficult aspects for people with rare diseases and their families is the long wait to get a diagnosis. According to data presented by the National Register of Rare Diseases of the Istituto Superiore di Sanità, in Italy, there are an estimated 20 cases of rare diseases per 10,000 inhabitants. For this reason, professionals who know how to recognise and treat them and care facilities that invest in research and innovation are also rare.

UPMC is equipped with state-of-the-art technologies that enable highly specific investigations such as angiography, scintigraphy, and endoscopic examinations.

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At UPMC, we offer highly specialised diagnostic tests and treatment at the following facility:

What diagnostic tests are performed at UPMC?

Some rare diseases cause congenital malformations, which must be detected and corrected before they cause severe damage to the body. Below is a list of the tests we offer at UPMC:

  • Angiography and diagnostic venography.
  • Colonoscopy.
  • Gastroscopy.
  • Thyroid and parotid scintigraphy.
  • Total body bone scintigraphy and polyphasic segmental.
  • Sequential renal scintigraphy.
  • Perfusive pulmonary scintigraphy.
  • Global body scintigraphy with immunological and receptor tracers (Octreoscan).
  • Myocardial tomoscintigraphy SPECT of perfusion at rest and after stimulus.
  • Myocardial scintigraphy for the study of vitality.
  • Sequential hepatobiliary scintigraphy.
  • Meckel's diverticulum research.

Procedures and surgical interventions at UPMC

Interventional Radiology

Interventional radiology allows us to perform minimally invasive surgeries. It is practised through local anaesthesia or deep sedation, minimizing the risks to the patient. Thanks to interventional radiology, it is possible to detect and correct many anatomical defects due to congenital and rare diseases. Below is a list of the procedures of this type that can be carried out at UPMC centres:

  • Angioplasties.
  • Placement of vascular stents.
  • Chemoembolization (localized treatment of liver tumours).
  • Drainage of the biliary tract.
  • Bilioplastiche.
  • Placement of caval stents.
  • Thoracic surgery.


Organ transplantation consists of removing a malfunctioning organ, such as the kidney or liver, and implanting a healthy organ that comes from a donor. Patients who need a new organ are enrolled in a waiting list and are taken care of by the National Transplant Network. Every transplant represents a huge multidisciplinary and organisational process. In fact, these are highly complex surgical interventions that require collaboration between numerous specialties and impeccable planning. For this reason, it is possible to undergo transplantation only at centres of excellence, such as IRCCS ISMETT – UPMC.

Below are the transplant services available at IRCCS ISMETT – UPMC:

  • Liver transplantation.
  • Kidney transplantation.
  • Heart transplantation.
  • Bowel transplantation.
  • Lung transplantation.

Rare diseases treated at UPMC

At UPMC, we offer diagnosis and treatment for numerous rare genetic, abdominal, and thoracic diseases including;

  • Rare diseases of metabolism.
  • Autoimmune, oncological, or congenital liver diseases.
  • Diseases of the genitourinary tract.
  • Diseases of the intestine.
  • Rare kidney disease.
  • Biliary atresia.
  • Wilson's disease.
  • Rare kidney disease.
  • Alagille syndrome.
  • Congenital liver fibrosis.
  • Primary sclerosing cholangitis.
  • Congenital deficiency of Alpha1 antitrypsin Crigler-Najjar syndrome.
  • Budd-Chiari syndrome, Joubert syndrome.
  • Atresia of fasting.
  • Liver disease related to cystic fibrosis.
  • Caroli's disease.
  • Progressive familial cholestasis.
  • Autoimmune hepatitis.
  • Sclerosing cholangitis of the small ducts.
  • Defects of synthesis of bile acids.
  • Cavernoma portale.
  • Congenital malformations of the portal vein.
  • Cyst of the choledocus.
  • Duodenal stenosis.

Our Specialized Services

Our expertise concerns in particular the paediatric area. Twenty percent of rare diseases involve children and adolescents under the age of 14 (source: Ministry of Health). In this population, there are rare diseases that occur more frequently. These are congenital malformations (45%), endocrine, metabolic and autoimmune diseases (20%).

For this reason, there are many parents who live years of frustrating uncertainty, between misdiagnosis and ineffective treatments. At UPMC, scientific research, innovation and healthcare proceed in synergy. In this way, we can guarantee, day after day, the best therapeutic solutions for our patients.

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