The Stratified Population Screening of Hereditary Hemorrhagic Telangiectasia

Tamás Major, Réka Gindele, Zsuzsanna Szabó, Zsuzsanna Kis, László Bora, Natália Jóni, Péter Bárdossy, Tamás Rácz, Zsuzsanna Bereczky

Research output: Contribution to journalArticle

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant multisystemic vascular disease with a wordwide prevalence of 1:5000–1:10000. We introduce our algorithm for the stratified population screening of HHT. Probands are selected from the consecutive hospital database review for HHT (I7800) and recurrent epistaxis (R0400) and the review of patient records referred by family practicioners. A proportion of probands might be de novo diagnosed with HHT in the 10-year study period. The checkup of probands consists of physical examination, arteriovenous malformation exploration and and genetic testing (ACVRL1 and ENG sequence analysis). The family screening of HHT consists of physical examination and screening for the family-specific mutation of each at-risk individual, and furthermore, arteriovenous malformation exploration in individuals with suspected/definite HHT and/or carrying the mutation. Twenty-five definite HHT patients were explored: 7 of them by the I7800 review, 1 by the R0400 review, 3 were de novo diagnosed, and the remaining 14 were explored by the systematic family screening. Considering the 20 patients alive at the end of the study period and the unavailable 5 potential HHT patients and 12 at-risk family members, the HHT prevalence is estimated to be 1:6090–1:11267 in our study area, implying our algorithm’s effectivity in the stratified population screening of HHT.

Original languageEnglish
Pages (from-to)2783-2788
Number of pages6
JournalPathology and Oncology Research
Volume26
Issue number4
DOIs
Publication statusAccepted/In press - Jan 1 2019

Keywords

  • ACVRL1
  • ENG
  • Founder effect
  • Hereditary hemorrhagic telangiectasia
  • Prevalence
  • Stratified screening

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Oncology
  • Cancer Research

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    Major, T., Gindele, R., Szabó, Z., Kis, Z., Bora, L., Jóni, N., Bárdossy, P., Rácz, T., & Bereczky, Z. (Accepted/In press). The Stratified Population Screening of Hereditary Hemorrhagic Telangiectasia. Pathology and Oncology Research, 26(4), 2783-2788. https://doi.org/10.1007/s12253-019-00602-7