Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary

J Clin Med. 2021 Aug 24;10(17):3774. doi: 10.3390/jcm10173774.

¹ Division of Otorhinolaryngology and Head & Neck Surgery, Kenézy Gyula Campus, University of Debrecen Medical Center, University of Debrecen, H-4031 Debrecen, Hungary.
² Division of Clinical Laboratory Science, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, H-4032 Debrecen, Hungary.
³ Department of Radiology, Szent Lázár County Hospital, H-3100 Salgótarján, Hungary.
⁴ Division of Radiology, Kenézy Gyula Campus, University of Debrecen Medical Center, University of Debrecen, H-4031 Debrecen, Hungary.
⁵ Division of Rare Diseases, Department of Internal Medicine Block B, Faculty of Medicine, University of Debrecen, H-4032 Debrecen, Hungary.

Abstract

Hereditary hemorrhagic telangiectasia (HHT) is a rare germline vascular malformation syndrome with a prevalence of 1:5000-1:10,000 [...].

Keywords: ACVRL1; Curaçao criteria; ENG; SMAD4; family screening; genetic test; germline mutation; hereditary hemorrhagic telangiectasia.