Bergen Hospital Trust
area of expertise and healthcare provider’s contribution to care for patients within the metabERN network
The porphyrias are rare hereditary metabolic diseases caused by abnormal function in one of the eight enzymes of the heme biosynthesis. They are multiform in clinical presentation and may be chronically debilitating and life-threatening. Symptoms can present as acute attacks of abdominal pain and neuropsychiatric symptoms and/or various forms of cutaneous symptoms. There is little specific treatment and patients are at risk for serious long-term complications. Active patient participation is essential for patient safety.
Helse Bergen HF, Haukeland University Hospital (HUS) hosts the Norwegian Porphyria Centre NAPOS (http://www.napos.no), which is the national service for porphyria patients and offers a broad range of services. This includes:
- Specialised laboratory services (advanced biochemical and genetic diagnostic tests)
- Guidelines on diagnosis, treatment and follow-up
- Clinical advice for individual patients
- Specialised drug information service
- Genetic and lifestyle counselling
- Aid when applying for benefits and other social services
At diagnosis, patients and their treating physicians receive relevant medical information. Patients also receive a personal ID-card and are offered participation in the Norwegian Porphyria Registry, a national medical quality registry, which registers information on symptoms/provoking factors, treatment and follow-up and provides feedback to patients to enable them to get better care.
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NAPOS provides extensive information for both patients and healthcare professionals at www.napos.no, sending out frequent newsletters with updates and relevant information. Yearly training courses for healthcare professionals, patients and their families are offered. NAPOS provides many low-threshold services for patients, including direct contact by email or phone and NAPOS staff travel out to counsel patients, their families and caretakers, kindergarten/school staff and other relevant parties in their home environment.
NAPOS is a member of the European Porphyria Network (EPNET, www.porphyria.eu), which is an association for specialist porphyria centres in Europe and other parts of the world. EPNET was originally one of ten pilot European Reference Networks in 2007-2013. NAPOS runs:
- The European Porphyria Registry (EPR)
- The EPNET External Quality Assessment Scheme for porphyrias
- The Drug Database for Acute Porphyria (www.drugs-porphyria.org)
specific treatments and interventions provided by the HCPs
Services are provided on a national level and include:
- Advanced diagnostic biochemical and genetic tests and monitoring with clinical comments
- Genetic counselling and predictive genetic testing
- Guidelines and clinical advice on diagnosis, treatment and follow-up
- Specialised drug information services and an evidence-based online database tool
- Information packages for patients and their treating physicians
- Personal ID-card with information on the diagnosis and contact information
- Low-threshold services for patients (direct telephone number and e-mail)
- Appointments at the centre or locally
- Advice and help with social needs applications
- Diagnosis-specific courses for patients, their family and caretakers
- Educational courses for healthcare professionals
The Norwegian Porphyria Registry sends out questionnaires on symptoms, follow-up, treatment, QoL and PROM measures. Results are published yearly at www.kvalitetsregistre.no and through the annual newsletter (NAPOSten).
Patients are not routinely seen at the centre for treatment, as it is the policy of the Norwegian Health Authority that patients are to receive treatment at their local hospital/practice, with support given by the multidisciplinary team at NAPOS. Patients admitted to Haukeland University Hospital receive care and treatment in relevant clinical departments in collaboration with NAPOS. NAPOS staff travel out all over Norway to counsel patients and their caretakers in their home environment/at local hospitals and visit schools/kindergarten if relevant.
Post Office​ Box 1400, NO-5021 Bergen, Norway