Ocular lesions in hereditary hemorrhagic telangiectasia: genetics and clinical characteristics

The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics. A cross-sectional study was conducted of a cohort of 206 patients studied in the HHT Unit of Hospital de Sierra...

Full description

Saved in:
Bibliographic Details
Published in:Orphanet journal of rare diseases 2020-06, Vol.15 (1), p.1-168, Article 168
Main Authors: Gómez-Acebo, Inés, Prado, Sara Rodríguez, De La Mora, Ãngel, Puente, Roberto Zarrabeitia, de la Roza Varela, Beatriz, Dierssen-Sotos, Trinidad, Llorca, Javier
Format: Article
Language:English
Subjects:
Abdomen
ACVRL1/ALK1
Age
ENG
Epistaxis
Ethics
Genes
Genetic aspects
Hemorrhage
Hereditary hemorrhagic telangiectasia
HHT
Lesions
Medical imaging
Medical research
Mutation
Nose
Osler-weber-Rendu
Patients
Rare diseases
Telangiectasis
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The aim of our study is to study the association between eye lesions in Hereditary Hemorrhagic Telangiectasia (HHT) and other signs of the disease, as well as to characterize its genetics. A cross-sectional study was conducted of a cohort of 206 patients studied in the HHT Unit of Hospital de Sierrallana, a reference centre for Spanish patients with HHT. Odds ratios for several symptoms or characteristics of HHT and ocular lesions were estimated using logistic regression adjusting for age and sex. The ocular involvement was associated with being a carrier of a mutation for the ENG gene, that is, suffering from a type 1 HHT involvement (OR = 2.09; 95% CI [1.17-3.72]). p = 0.012). In contrast, patients with ocular lesions have less frequently mutated ACVRL1/ALK1 gene (OR = 0.52; 95% CI [0.30-3.88], p = 0.022). In conclusion, half of the patients with HHT in our study have ocular involvement. These eye lesions are associated with mutations in the ENG gene and ACVRL1/ALK1 gene. Thus, the ENG gene increases the risk of ocular lesions, while being a carrier of the mutated ACVRL1/ALK1 gene decreases said risk.
ISSN:1750-1172
1750-1172
DOI:10.1186/s13023-020-01433-5