Background: The porphyrias, a group of seven metabolic disorders in the haem biosynthesis, can be classified into acute and non-acute porphyrias. A common symptom of acute porphyrias is severe acute abdominal pain, whereas cutaneous photosensitivity can occur in both acute and non-acute porphyrias. All porphyrias, except for sporadic porphyria cutanea tarda (sPCT), are hereditary disorders caused by mutations in the respective genes. We present porphyria cases documented in our porphyria centre during the past 15 years.
Methods: Diagnosis was based on clinical symptoms and biochemical analyses. Mutation analysis was performed in patients/families with a confirmed hereditary porphyria.
Results and conclusions: As the porphyria specialist centre of Switzerland, we perform the specialized analyses required for the diagnosis of all types of porphyrias, and give advice to patients, physicians and other laboratories. We therefore estimated that our data cover 80-90% of all diagnosed Swiss cases. A total of 217 patients from 170 families were diagnosed including, 111 acute intermittent porphyria, 45 erythropoietic protoporphyria, 30 variegate porphyria, 21 sPCT, five congenital erythropoietic porphyria, four hereditary coproporphyria and one hepatoerythropoietic porphyria patient. Systematic monitoring of the patients would allow early detection of the potential life-threatening complications such as hepatocellular carcinoma and renal insufficiency in acute porphyrias, and liver failure in EPP. Seventy-five percent of all families underwent genetic testing. Identification of pre-symptomatic mutation carriers so that these individuals and their physicians can be consulted with safety on drug use and other preventive measures, is important in managing acute porphyrias. The unique phenomenon of founder mutations in the Swiss population is also discussed.