The incidence of inherited porphyrias in Europe
- 1.3k Downloads
Retrospective estimates of the prevalence of porphyrias have been reported but there has been no large scale prospective study of their incidence. The European Porphyria Network collected information prospectively over a 3 year period about the number of newly diagnosed symptomatic patients with an inherited porphyria (335 patients from 11 countries). Prevalence was calculated from the incidence and mean disease duration. The incidence of hepato-cellular carcinoma (HCC) in acute hepatic porphyria and the prevalence of patients with recurrent acute attacks of porphyria were also investigated. The incidence of symptomatic acute intermittent porphyria (AIP) was similar in all countries (0.13 per million per year; 95 % CI: 0.10 – 0.14) except Sweden (0.51; 95 % CI: 0.28–0.86). The incidence ratio for symptomatic AIP: variegate porphyria: hereditary coproporphyria was 1.00:0.62: 0.15. The prevalence of AIP (5.4 per million; 95 % CI: 4.5–6.3) was about half that previously reported. The prevalence of erythropoietic protoporphyria (EPP) was less uniform between countries and, in some countries, exceeded previous estimates. Fourteen new cases of HCC (11 from Sweden) were reported in patients with acute porphyria. Sixty seven patients (3 VP; 64 AIP: 53 females, 11 males) with recurrent attacks of acute porphyria were identified. The estimated percentage of patients with AIP that will develop recurrent acute attacks was 3–5 %. In conclusion, the prevalence of symptomatic acute porphyria may be decreasing, possibly due to improved management, whereas the prevalence of EPP may be increasing due to improved diagnosis and its greater recognition as a cause of photosensitivity.
KeywordsAcute Attack Porphyria Primary Hepatocellular Carcinoma Porphyria Cutanea Tarda Acute Intermittent Porphyria
Acute intermittent porphyria
5-aminolevulinate dehydratase deficiency porphyria
Congenital erythropoietic porphyria
European Porphyria Network
This work was co-funded by the European Commission through its Public Health and Consumer Protection Directorate (DG SANCO) PHEA programme. Thomas Røraas at the Norwegian Quality Improvement of Primary Care Laboratories (NOKLUS), Bergen Norway advised on the statistical analyses of the data.
The project was co-funded by the European Commission through its Public Health and Consumer Protection Directorate (DG SANCO) PHEA programme. The authors confirm independence from the sponsors; the content of the article has not been influenced by the sponsors.
- Aarsand AK, Villanger JH, Støle E, Deybach JC, Marsden J, To-Figueras J, Badminton M, Elder GH, Sandberg S (2011) European specialist porphyria laboratories: diagnostic strategies, analytical quality, clinical interpretation, and reporting as assessed by an external quality assurance program. Clin Chem 57:1514–1523CrossRefPubMedGoogle Scholar
- Anderson KE, Sassa SS, Bishop DF, Desnick RJ (2001) X-linked sideroblastic anemia and the porphyrias. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 8th edn. McGraw-Hill, New York, pp 2991–3062Google Scholar
- Deacon AC, Whatley SD, Elder GH (2006) Porphyrins and disorders of porphyrin metabolism. In: Burtis C, Ashwood ER, Bruns DE (eds) Tietz textbook of clinical chemistry and molecular diagnostics, 4th edn. Elsevier, St Louis, pp 1209–1235Google Scholar
- Dowman JK, Gunson BK, Mirza DF, Bramhall SR, Badminton MN, Newsome PN, on behalf of the UK Liver Selection and Allocation Working Party (2012) Liver transplantation for acute intermittent porphyria is complicated by a high rate of hepatic artery thrombosis. Liver Transpl 18:195–200CrossRefPubMedPubMedCentralGoogle Scholar
- Elder GH, Gouya L, Whatley SD, Puy H, Badminton MN, Deybach JC (2009) The molecular genetics of erythropoietic protoporphyria. Cell Mol Biol (Noisy-le-Grand) 55:118–126Google Scholar
- Gouya L, Martin-Schmitt C, Robreau AM, Austerlitz F, Da Silva V, Brun P, Simonin S, Lyoumi S, Grandchamp B, Beaumont C, Puy H, Deybach JC (2006) Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria. Am J Hum Genet 78:2–14CrossRefPubMedGoogle Scholar
- Meissner PN, Meissner DM, Sturrock ED, Davidson B, Kirsch RE (1987) Porphyria – the UCT experience. South Afr Med J 72:755–61Google Scholar
- Orphanet Report Series (2010) Prevalence of rare diseases; bibliographic data. http://www.orpha.net/orphacom/cahiiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf
- Ulm K (1990) A simple method to calculate the confidence interval of a standardized mortality ratio(SMR). Amer J Epidem 131:373–375Google Scholar
- Whatley SD, Puy H, Morgan RR et al (1999) Variegate porphyria in Western Europe:identification of PPOX gene mutations in 104 families, extent of allelic heterogeneity, and absence of correlation between phenotype and type of mutation. Am J Hum Genet 65:984–994CrossRefPubMedPubMedCentralGoogle Scholar