Helse Bergen HF, Haukeland University Hospital

AREA OF EXPERTISE AND HEALTHCARE PROVIDER’S CONTRIBUTION TO CARE FOR PATIENTS WITHIN THE METABERN NETWORK

The porphyrias are rare hereditary metabolic diseases that are caused by abnormal function in one of the eight enzymes of the haem 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 which 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 and 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 which provides feedback to patients to enable them to get better care.

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 that they can make contact by email or phone directly and that 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 EPNET External Quality Assessment Scheme for porphyrias, which aims to improve diagnostic testing quality and has participation from 37 specialist porphyria laboratories worldwide, and the Drug Database for Acute Porphyria (www.drugs-porphyria.org). This provides evidence-based advice on safe and unsafe drugs for the acute porphyrias and had 70 000 visits from more than 100 different countries in 2016. NAPOS also hosts the European Porphyria Registry (EPR) which records clinical and laboratory information about patients with acute intermittent porphyria, with the objective to better understand the natural history and evaluate the effect and clinical efficacy of different treatment modalities. Nine European porphyria specialist centres are by August 2017 registering data in the EPR and more than 400 visits for 242 patients have been recorded.

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, the Drug Database for the Acute Porphyria (www.drugs-porphyria.com); information packages for patients and their treating physicians with information (booklet) about the specific diagnosis including preventive measures; personal ID-card with information on the diagnosis and contact information to NAPOS and NAPOS webpage, 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 and educational courses for health care professionals.
The Norwegian Porphyria Registry sends out questionnaires on symptoms, follow-up, treatment, QoL and PROM measures. Results from the Norwegian Porphyria Registry are published yearly at www.kvalitetsregistre.no and through the annual newsletter (NAPOSten) distributed to registered patients and their healthcare providers. Results from individual patients indicating inadequate care (e.g. unsafe drug use, pathologic results of biobank samples) are communicated directly to the patient in question.
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/practise, 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.