Background
The porphyrias are rare genetic diseases that can be chronically debilitating and life threatening, particularly affecting adults with young families who are at the start of their working life. Understanding and knowledge among general clinicians is low and there is a risk that without expert services and advice in all European countries the conditions will be under-diagnosed and inadequately treated. Porphyrias are an excellent example of a group of disorders where the limited number of patients and scarcity of relevant knowledge and expertise single them out as a distinctive domain of very high European added value. The European Porphyria Network (EPNET) ensures that scarce relevant knowledge is shared and resources combined.
Scope and objectives
Our mission is to improve the lives of porphyria patients by improving the diagnosis and treatment of these rare conditions. The objective is to provide an effective network of specialist porphyria centres in each country with a focus on: provision of information to patients in their own language and to healthcare professionals; use of external quality assessment scheme to develop quality standards for analytical quality, diagnosis and clinical advice; a web-based European Porphyria Registry (EPR) to collect data about the porphyrias to inform clinical practice and healthcare planning.
Work achieved in 2012
EPNET is a network of porphyria expert centres providing specialist testing and clinical advice on all porphyrias. The network is composed of 43 network members in 30 countries (including 5 non European countries). Centres are expected to see most of the patients in their region or country, participate in the laboratory external quality assessment scheme, attend board meetings and liaise with their national patient organisations. The network has allowed the exchange of ideas, particularly in relation to diagnostic problems, clinical management issues and preventive procedures.
EPNET provides services to patients and families: Information for each type of porphyria, in lay language, is available in 11 languages and a network for answering queries has been set-up. The public website receives many hits and generates enquiries from patients and clinicians, many of which demonstrate the continuing need for expertise and information about porphyria. EPNET has provided the platform for initial patient organisation meetings which has resulted in a porphyria patient on-line community in collaboration with Eurordis http://www.rareconnect.org/en/community/porphyria.
The European Porphyria Registry has been developed to record clinical and laboratory information about patients with acute intermittent porphyria (AIP) in Europe. It has been designed for use by individual clinicians in, or collaborating with, specialist centres to register and follow the progress of patients with AIP whether symptomatic or not. The primary objective of the registry is to better understand the natural history of AIP, evaluate the effect and clinical efficacy of different treatment modalities and facilitate clinical trials and research projects.
Strategic relevance and contribution to the health programme
Because the porphyrias are rare diseases, it is not possible to achieve our objectives on a national level. EPNET data from 2007-2009, in 11 countries, was able to show an overall incidence of new AIP cases to be 0.13 per million per year (95% confidence interval: 0.11-0.16). Collaboration between countries is therefore required to pool experience from as large a number of patients and porphyria specialists as possible.
EPNET was one of the reference network pilot projects funded in 2006 by the DG Sanco supporting the exchange of information and experience on good practice.
Conclusions
EPNET is now a well established European porphyria reference network. EPNET Member’s enthusiasm and momentum are key factors in demonstrating the network’s sustainability. Great effort has been spent in efficiently running, coordinating, expanding the network and establishing the European Porphyria Registry; these are powerful reasons for continuing. As the EU funding was for a limited period, it has now become essential to restructure the organisation of EPNET to be able to maintain and, where possible, to expand its activities.~
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