Porphyrias are a group of rare, predominantly hereditary, metabolic diseases, characterized by the absence of pathognomonic symptoms. The creation of a Registry of patients affected by the various types of porphyria in Veneto Region (Italy) is a useful tool for collecting clinical, biochemical, genetic, epidemiological and psychological information with the aim of improving knowledge of these rare pathologies, facilitating and reducing the diagnosis times and identifying an interdisciplinary path that these patients and their families need.

The Porphyria Center in Padova was recently established. The first diagnosis dates back to 2010, but in a short time numerous new diagnoses of both acute and cutaneous porphyria were performed with the advantage of making use of professionals with experience in internal medicine, hepatology, dermatology, nutrition, gynecology, nephrology, neurology, biochemistry and genetics to respond to the patient‘s multiple needs. Diagnosis of all forms of porphyria is made by identifying specific patterns of porphyrin metabolites and porphyrin precursors in urine, feces, and blood. Genetic analysis is the gold standard, available to all patients. Padova’s experts currently follow more than 80 patients. During the summer at least 10 patients suffering from EPP are treated with Afamelanotide; in 2020, the center was authorized to treat 2 young women with Givosiran and currently, there are 5 patients on therapy (4 AIP, 1 VP). The Porphyria Registry Padova, prepared with the and shared among the center‘s specialist, will only be accessible with a password. The Registry will contain patient data in anonymous form with demographic information, information on the characteristics and severity of symptoms, presence of associated pathologies, laboratory analysis data, use and response to therapies and other aspects deemed useful in order to improve knowledge of these rare pathologies. The project was approved by the local Ethics Committee. Patients will be included only after signing the informed consent. Delays in the diagnosis of acute porphyrias can reach up to 15 years from the onset of clinical manifestations. The symptoms are often similar to those of other gastrointestinal, gynecological, neurological or neuropsychiatric diseases and can lead to frequent and prolonged hospital admissions and even unnecessary surgical procedures. Data in the literature are still scarce regarding the natural history of the disease, its onset, progression and complications, including the disabling impact on the daily and social life of patients. The introduction of drugs based on new technologies capable of treating and improving the quality of life of these patients, reducing the frequency of attacks and chronic pain, makes the support of a porphyria registry of primary importance. Patients undergoing new therapies must also be monitored from the point of view of liver and kidney function and regarding the levels of porphyrin metabolites.