PORPHYRIAS AND RARE DISEASES
Porphyrias are rare hereditary metabolic disorders caused by the deficiency of one of the eight enzymes that belong to the heme biosynthesis pathway. Porphyrias can manifest with neurovisceral or cutaneous symptoms or both, depending on the accumulation of specific molecules called porphyrins or their precursors. Since the diagnosis of Porphyria is largely based on biochemical tests, a specialized laboratory was created at the San Gallicano Hospital in the late 1960s. Nowadays, the Porphyria Center provides all the services necessary for the diagnosis, treatment and prevention of these rare diseases with a large experience collected during the years. The diagnostic-assistance process takes place in an outpatient setting for the first visits and follow-up visits but guarantees access to a day hospital for the administration of therapies. To support clinical activity, the Center has a qualified laboratory for biochemical analyses for the diagnosis of Porphyrias and guarantees the possibility of carrying out genetic tests. The Center is a founding member of the Italian Porphyria Group (GrIP) ONLUS and a full member of the International Porphyria Network (IPNET), associations dedicated to promoting research, knowledge on porphyrias and facilitating good clinical practice in the diagnosis and treatment of patients. The Center actively participates in the clinical trials of innovative drugs for the treatment of Porphyrias and collaborates with the main associations of patients affected by porphyria to facilitate diagnosis and access to treatment.




