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The inaugural EPI general assembly featured presentations by leading porphyria laboratories, which are primarily in Europe. Professors Richard Hift and Peter Meissner were invited guests from Cape Town, and Richard Hift gave an excellent lecture which summarised the recent developments and ongoing questions in the porphyria field.
Following an introduction and welcome from the president, Professor Jean-Charles Deybach, Professor Sandberg presented the work of the EPI board in identifying the criteria which might be used to define what constituted a specialist laboratory. Each specialist centre was then invited to give a brief presentation on their service.
The laboratory presentations: reported by Cindy Darby and Vivion Crowley, Porphyrin Specialist Centre, Dublin
Nineteen porphyria centres took part in the laboratory presentations. While most were from Europe, Galveston (USA), Cape Town and Tel Aviv also participated. All centres gave an overview of the nature and extent of porphyria diagnostic support services provided, including the spectrum of biochemical and molecular diagnostic tests available, Quality Assurance (QA) schemes used, annual laboratory workload, associated incidence of porphyria, numbers of new cases diagnosed in 2004, ongoing research and future developments. The range of biochemistry tests available was similar in most centres, although in some centres a greater emphasis was placed on using plasma as a first- line investigation in acute porphyria. Subsequent discussion advocated adopting consensus protocols and common reporting units. Notably, fewer than 50% of labs participated in an external QA scheme and, until an EPI scheme is available, the Australian RCPA-AACB QAP was recommended in the interim. Mutation analysis was available in 58% of centres, and in most laboratories this lead to a reduction in enzyme analysis availability.
Most diagnostic centres had a link to a porphyria clinic and in turn these clinics had access to ancillary services such as Dermatology, Hepatology, Metabolic medicine, Endocrinology, Haematology and genetic counselling, as appropriate. Almost all centres provided detailed interpretation of reports, advice on management and distant consultation by phone, letter or email. There is ongoing research in most of the larger centres (Cardiff, Paris, Scandinavia) with collaboration between many of the centres in Europe and the USA.
Porphyria diagnostic services have been established for varying lengths of time in each participant country, ranging from 2 years (Brussels) to 60 years (Barcelona) and catered for a range of population sizes e.g. 4 million (Ireland) and 50 million (Spain). The patient workload varied from 200-2000 individuals screened overall, with up to 8000 tests performed annually in some of the larger centres (e.g. Paris). The prevalence of porphyria is well established in the Scandinavian countries and in all European countries sporadic PCT is the most common non-acute porphyria, with AIP as the most common acute porphyria. The most variable incidence of porphyria was in HCP, and of interest no cases have been detected in Finland to date.
In terms of specific EPI services, the drugs database maintained by NAPOS has 300 hits/day (15,000 hits/year) and the Cape Town database has 6000 hits annually. What is evident from the meeting is that the provision of quality porphyria services in Europe is thriving under the umbrella of EPI, despite the variations in healthcare delivery and languages used in participating countries. This contrasts with the situation in the USA where the number of centres has declined. On this basis, the meeting has provided an excellent platform by which EPI can further enhance clinical service, public health and research aspects of the porphyrias.
Clinical Conundrums and view from Agnieszka Lipniacka, Warsaw, Poland.
On the second day each specialist centre presented a short case presentation to illustrate a particular diagnostic and clinical management problem. This clinical session was chaired by Prof. Jorge Frank. Specialists presented their most atypical and debatable case which generated great interest and triggered off lively discussions in which everyone shared their knowledge and experience in caring for porphyria patients, as well as in laboratory diagnostics.
The meeting in Paris was a great event and wonderful adventure, with the opportunity to meet other experts who worked in the field of porphyria. I would like to thank Prof. Jean-Charles Deybach for his hospitality, openness and for organising this meeting.
A view from America. From Dr Karl Anderson, Galveston, Texas
Most European countries have one or more specialized university-based laboratories that are resources for the biochemical and molecular diagnosis of porphyrias. These laboratories and associated clinical and laboratory scientists are funded largely by national governments research and service, and they provide expertise for reliable diagnosis and specialized treatment of porphyrias throughout Europe. In some European countries, most families with inherited porphyrias appear to have been identified and their mutations are known. As a result, it seems possible most gene carriers in such countries can be identified, and preventive measures taken to avoid symptoms of porphyria. By contrast, in the US, where federal government funding for porphyria research has declined, there is only one university laboratory that is a resource for biochemical testing, and another that is beginning to offer DNA testing. Most porphyria testing in the US is performed by large commercial laboratories that report results that are of uncertain reliability and are often misinterpreted. Therefore, there is often substantial delay in diagnosis, the majority of patients and their families are newly recognized and it is likely that there are many unrecognized individuals and families with porphyria. This conference enabled different laboratories to share their experience, compare methods and findings, and to present interesting and problematic cases. Future conferences will add value, and lead to wider adoption of standards for diagnosis of the various porphyrias.
Conclusions
Although the conference schedule was busy, those conference delegates willing to brave the cold took the opportunity to see some of the Paris sights or do some last minute Christmas shopping! We all enjoyed the kind and friendly hospitality provided by our Parisian hosts and the Assembly dinner at “Les Grandes Marches” in the Bastille. We offer our thanks to the EPI board members, in particular Jean-Charles Deybach and Samantha Parker, for all the hard work in organizing this thoroughly enjoyable meeting. Finally thank you to Orphan Europe for their most welcome financial support.
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