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 which expanded the depth and breadth of the five-year old online epidemiological survey by adding targeted questions in important areas of interest to PXE research: coronary and arterial angiograms, brain scans, liver and kidney ultrasounds, and antiangiogenesis and other treatments for the eye. Recruitment during 2011 resulted in data from 513 completed surveys analysed during 2012.

In November 2014, PXE International launched the PXE Health Engagement and Lifestyle Program (HELP), a program to help individuals affected by pseudoxanthoma elasticum to discover how we can be healthlier. This includes working to discover a treatment, and understanding what lifestyle changes or habits might improve health for people affected by PXE. The first step is an extensive, updated survey to understand where everyone is now. More information on the PXE HELP Survey


Primary Researchers

Lionel Bercovitch
Anne De Paepe
Olivier Le Saux
Qiaoli Li
Ludovic Martin
Ellen Pfendner
Ivonne Pasquali-Ronchetti
Michele Ramsay
Jouni Uitto
Olivier Vanakker

Related Articles

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 EGVanakker OMTerry SF, Vourthis S, McAndrew PE, McClain MR, Fratta S, Marais AS, Hariri S, Coucke PJ, Ramsay M, Viljoen D, Terry PFDe Paepe AUitto JBercovitch 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 SFTerry PF, Rauen KA, Uitto JBercovitch 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