The Norwegian Porphyria Centre NAPOS is the national service for porphyrias, providing specialist services for health care professionals and their patients with porphyria. We are located at Haukeland University Hospital in Bergen. Our centre is a part of the National Advisory Unit on Rare Disorders, a national Norwegian service that coordinates competence in the field of rare disorders in Norway.
The porphyrias are rare hereditary metabolic disorders caused by abnormal function in one of the eight enzymes of the haem biosynthesis.
The porphyrias give different types of symptoms, either in the form of acute attacks of abdominal pain and neuropsychiatric symptoms and/or various forms of cutaneous symptoms.
The porphyrias are diagnosed based on specialised analysis of urine, faeces and blood. DNA analysis is rarely necessary for a symptomatic diagnosis, but is the method of choice in family investigations.
Services at NAPOS
On our website, www.napos.no
, we provide extensive information for healthcare professionals with recommendations on treatment and follow-up as well as information for patients.
We also offer expert clinical advice, specialised drug information service, genetic and lifestyle counselling and arrange yearly training courses for healthcare professionals and for patients and their families.
In collaboration with the Department of Medical Biochemistry and Pharmacology and the Department of Medical Genetics, we offer specialised laboratory services for biochemical and genetic diagnostic analyses.
At diagnosis, patients with porphyria and their treating physicians receive relevant medical information including guidelines for monitoring and treatment. Patients also receive a personal ID-card and are invited to participate in the Norwegian Porphyria Registry, a national medical quality registry.
Research and development
Our research interests span all aspects related to the porphyrias, with focus on natural history, diagnostic strategies, disease characteristics and quality of life studies, registry-related research, drug safety in acute porphyrias and heme biosynthesis.
NAPOS hosts the Norwegian Porphyria Registry, a national quality registry which monitors whether patients receive treatment and follow-up as recommended by best-practice guidelines developed by the centre. NAPOS also runs the Norwegian Porphyria Biobank.
MetabERN aims to connect the most specialised centres on inherited metabolic rare diseases to promote prevention, accelerate diagnosis, and improve care standards across Europe for patients living with inherited metabolic rare diseases.