The Norwegian Porphyria Centre NAPOS

The Norwegian Porphyria Centre NAPOS provides specialist services for health care professionals and their porphyria patients, including on diagnosis, treatment and follow-up, genetic counselling and family testing. NAPOS is located at Haukeland University Hospital and is part of the Norwegian National Advisory Unit on Rare Disorders.

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.

About porphyrias

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.

Introduction to porphyrias – for patients

Introduction to porphyrias – for professionals

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.

International collaboration

NAPOS is a member of the International Porphyria Network IPNET, which is an association for specialist porphyria centres across the world.

NAPOS runs the IPNET External Quality Assessment Scheme for porphyrias, the European Porphyria Registry and the drug database for the acute porphyrias (www.drugs-porphyria.org)

NAPOS/Haukeland University Hospital is a full member of the European Reference Network MetabERN.

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.

Contact

Phone

+47 55 97 31 70

E-mail

porfyri@helse-bergen.no