The Stratified Population Screening of Hereditary Hemorrhagic Telangiectasia
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The Stratified Population Screening of Hereditary Hemorrhagic Telangiectasia Tamás Major 1,2 & Réka Gindele 3 & Zsuzsanna Szabó 3 & Zsuzsanna Kis 4 & László Bora 5 & Natália Jóni 6 & Péter Bárdossy 7 & Tamás Rácz 8 & Zsuzsanna Bereczky 3 Received: 3 December 2018 / Accepted: 15 January 2019 # Arányi Lajos Foundation 2019
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. Keywords Hereditary hemorrhagic telangiectasia . Prevalence . Stratified screening . ACVRL1 . ENG . Founder effect
Introduction Hereditary hemorrhagic telangiectasia (HHT; OMIM # 187300) is an autosomal dominant vascular disease described by the four Curacao criteria: 1. spontaneous and recurrent
nosebleeds; 2. multiple telangiectases at characteristic sites (lips, oral cavity, fingers, nose); 3. visceral lesions as gastrointestinal telangiectasia and arteriovenous malformations (AVM) predominantly in the lungs, liver and brain; and 4. family history with a first degree relative with HHT.
Electronic supplementary material The online version of this article (https://doi.org/10.1007/s12253-019-00602-7) contains supplementary material, which is available to authorized users. * Tamás Major [email protected] 1
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Department of Otolaryngology and Head and Neck Surgery, B-A-Z County Central Hospital and University Teaching Hospital, Szentpéteri kapu 72-76, Miskolc H-3526, Hungary Borsod-Abaúj-Zemplén Megyei Központi Kórház és Egyetemi Oktatókórház Fül-Orr-Gége és Fej-Nyak Sebészeti Osztály, Szentpéteri kapu 72-76, Miskolc 3526, Hungary Division of Clinical Laboratory Science, Department of Laboratory Medicine, University of Debrecen, Nagyerdei krt. 98, Debrecen H-4032, Hungary
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