Clin Exp Otorhinolaryngol.
2021 Nov;14(4):399-406. 10.21053/ceo.2020.02124.
Genetic Variants and Clinical Phenotypes in Korean Patients With Hereditary Hemorrhagic Telangiectasia
- Kim BG
1 - Jung Jh2
- Kim MJ1
- Moon EH1
- Oh JH2
- Park JW2
- Cha HE2
- Kim JH3
- Kim YJ3
- Chung JW3
- Hahm KB4
- Jin HR5
- Jang YJ6
- Kim SW7
- Chung SK8
- Kim DW9
- Lee YJ1,10
- Kim ST2
- Affiliations
-
- 1Lee Gil Ya Cancer and Diabetes Institute, Gachon University, Incheon, Korea
- 2Department of Otolaryngology-Head and Neck Surgery, Gachon University Gil Medical Center, Incheon, Korea
- 3Department of Gastroenterology, Gachon University Gil Medical Center, Incheon, Korea
- 4Digestive Disease Center, CHA Bundang Medical Center, Seongnam, Korea
- 5Dr. Jin’s Premium Nose Clinic, Seoul, Korea
- 6Department of Otolaryngology, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
- 7Department of Otorhinolaryngology-Head and Neck Surgery, Kyung Hee University, School of Medicine, Seoul, Korea
- 8Department of Otorhinolaryngology-Head and Neck Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
- 9Department of Otorhinolaryngology-Head and Neck Surgery, Boramae Medical Center, Seoul National University College of Medicine, Seoul, Korea
- 10Department of Biochemistry, Gachon University College of Medicine, Incheon, Korea
- KMID: 2522431
- DOI: http://doi.org/10.21053/ceo.2020.02124
Abstract
Objectives
. Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular disorder characterized by recurrent epistaxis, telangiectasia, and visceral arteriovenous malformations (AVMs). Activin A receptor-like type 1 (ACVRL1/ALK1) and endoglin (ENG) are the principal genes whose mutations cause HHT. No multicenter study has yet investigated correlations between genetic variations and clinical outcomes in Korean HHT patients.
Methods
. Seventy-two members from 40 families suspected to have HHT based on symptoms were genetically screened for pathogenic variants of ACVRL1 and ENG. Patients with genetically diagnosed HHT were also evaluated.
Results
. In the HHT genetic screening, 42 patients from 24 of the 40 families had genetic variants that met the pathogenic criteria (pathogenic very strong, pathogenic strong, pathogenic moderate, or pathogenic supporting) based on the American College of Medical Genetics and Genomics Standards and Guidelines for either ENG or ACVRL1: 26 from 12 families (50%) for ENG, and 16 from 12 families (50%) for ACVRL1. Diagnostic screening of 42 genetically positive HHT patients based on the Curaçao criteria revealed that 24 patients (57%) were classified as having definite HHT, 17 (41%) as having probable HHT, and 1 (2%) as unlikely to have HHT. Epistaxis was the most common clinical presentation (38/42, 90%), followed by visceral AVMs (24/42, 57%) and telangiectasia (21/42, 50%). Five patients (12%) did not have a family history of HHT clinical symptoms.
Conclusion
. Only approximately half of patients with ACVRL1 or ENG genetic variants could be clinically diagnosed as having definite HHT, suggesting that genetic screening is important to confirm the diagnosis.
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