Epidemiology of PXE
PXE is estimated to affect 1: 50,000 individuals worldwide and each with varying degrees of severity. Because of the heterogenisity of symptoms, even between family members, epidemiologic studies of the affected population are vital to the understanding of the disease. PXE International and the PXE International Research Consortium (PIRC) have repeatedly surveyed the affected community through questionnaires, medical records reviews, and sample collection to further the understanding of this disease.
Between 1998 and 2006, the PXE International Research Consortium administered a questionnaire, medical record review, and a series of sample collections on over 270 individuals to study the correlations between genetic mutations and the phenotypic manifestations of PXE. Over the course of this study, 316 different mutant alleles were identified in 239 individuals with 39 of the mutations being novel. While this study advanced the study of the genetics of PXE, the researchers were unable to identify any genotypic-phenotypic correlations.
In 2011, an updated epidemiologic suvery was developed and is currently being completed by members of the PXE community. The purpose of htis study is to update old information, gather new information, and use those findings to further PXE Research and our understanding of the condition. We are asking PXEers worldwide to be a part of this study by filling out an online survey.
Currently, an epidemiologic study of the PXE community is continuing through analysis of the progression of the disease in pediatric patients as well as progression of vision loss in the adult populations.
Learn more about the epidemiological survey here.
Quaglino D, Boraldi F, Annovi G, Ronchetti I. The Multifaceted Complexity of Genetic Diseases: A Lesson from Pseudoxanthoma Elasticum. Advances in the Study of Genetic Disorders, 2012 Mar ISBN: 978-953-307-305-7. Article here.
Vasseur M, Carsin-Nicol B, Ebran JM, Willoteaux S, Martin L, Lefthériotis G, on the behalf of the Angers PXE Consultation Center group. Carotid rete mirabile and pseudoxanthoma elasticum: an accidental association? Eur J Vasc Endovasc Surg. 2011 Sep;42(3):292-4. PMID:21723754
Pfendner EG, Vanakker OM, Terry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PF, De Paepe A, Uitto J, Bercovitch LG. Mutation Detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum. J Med Genet. 2007 Oct;44(10):621-8. Patient Summary. Free article in PubMed. PMCID: 2597973
Terry SF, Terry PF, Rauen KA, Uitto J, Bercovitch LG. Advocacy groups as research organizations: the PXE International example. Nat Rev Genet. 2007 Feb;8(2):157-64. PMID: 17230202
Le Saux O, Beck K, Sachsinger C, Treiber C, Göring HH, Curry K, Johnson EW, Bercovitch L, Marais AS, Terry SF, Viljoen DL, Boyd CD. Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. Hum Genet. 2002 Oct;111(4-5):331-8. PMID: 12384774