THE NORWEGIAN PORPHYRIA REGISTER

Stoele E, Johannessen RA, Aarsand AK, Brun A and Sandberg S

Norwegian Porphyria Centre, Haukeland University Hospital, Bergen, Norway

The Norwegian Porphyria Centre (NAPOS) established a national porphyria register in 2002. The main objectives of the register are porphyria research, genealogical studies as well as prophylaxis or treatment of individual patients. It is also a useful tool for the informative work performed by the Porphyria Centre, which includes distribution of brochures, newsletters and porphyria ID cards. Data collection is based on questionnaires filled in by individuals diagnosed with porphyria, and is supplemented with biochemical and genetic laboratory results. All registered persons will also receive a follow-up questionnaire every second year. These questionnaires will be used to continuously update existing information in the database, and also to collect new data for prospective studies.

So far we have registered 312 individuals with latent or manifest porphyria. These are divided into 5 different diagnoses: 160 with acute intermittent porphyria (AIP), 124 with porphyria cutanea tarda (PCT), 17 with erythropoietic protoporphyria (EPP), 9 with variegate porphyria (VP), and 2 with hereditary coproporphyria (HCP). We have also collected genealogical data, and have currently registered more than 2000 family members.

Clinical expressions during attacks of AIP are self-reported by 85 individuals with manifest AIP. Abdominal pain is the most common symptom (87%), followed by fatigue (69%), dark/red-coloured urine (59%), muscle pain (58%), muscle weakness (51%), and tachycardia (51%). Other results from the register will be presented.