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.
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This study was funded by grants from the Hungarian National Research Fund (OTKA K116228) and by the Ministry of National Economy, Hungary (GINOP-2.3.2-15-2016-00039).
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Online Resource 1
Pedigree charts of HHT families with ACVRL1 mutations. Probands are marked with arrows. Filled individuals are affected, either by carrying the mutation and/or having definite HHT. In the upper left index † = definite HHT, * = deceased or unavailable patient with epistaxis and/or telangiectases by hearsay. In the upper right index M = family-specific ACVRL1 mutation, w = ACVRL1 wild type, u = patient unavailable for genetic screening. Individuals indicated with grey are living outside the study area (PPTX 80 kb)
Online Resource 2
Pedigree charts of HHT families with ENG mutations. Probands are marked with arrows. Filled individuals are affected, either by carrying the mutation and/or having definite HHT. In the upper left index † = definite HHT, * = deceased or unavailable patient with epistaxis and/or telangiectases by hearsay. In the upper right index M = family-specific ENG mutation, w = ENG wild type, u = patient unavailable for genetic screening. Individuals indicated with grey are living outside the study area (PPTX 105 kb)
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Major, T., Gindele, R., Szabó, Z. et al. The Stratified Population Screening of Hereditary Hemorrhagic Telangiectasia. Pathol. Oncol. Res. 26, 2783–2788 (2020). https://doi.org/10.1007/s12253-019-00602-7
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DOI: https://doi.org/10.1007/s12253-019-00602-7