Facultad de Medicina, Universidad de Cantabria, Avda. Herrera Oria s/n, 39011, Santander, Spain.
IDIVAL, Santander, Spain.
Orphanet J Rare Dis. 2020 Jun 29;15(1):168. doi: 10.1186/s13023-020-01433-5.
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.
我们研究的目的是研究遗传性出血性毛细血管扩张症（HHT）眼部病变与疾病其他体征之间的关系，以及对其遗传学进行特征描述。
对在遗传性出血性毛细血管扩张症单位就诊的 206 例患者进行了一项横断面研究，该单位是西班牙遗传性出血性毛细血管扩张症患者的参考中心。使用 logistic 回归调整年龄和性别，对 HHT 的几种症状或特征与眼部病变的比值比进行了估计。
眼部受累与 ENG 基因突变的携带者有关，即患有 1 型 HHT 受累（OR=2.09；95%CI [1.17-3.72]）。p=0.012）。相比之下，眼部病变患者的 ACVRL1/ALK1 基因突变较少（OR=0.52；95%CI [0.30-3.88]，p=0.022）。
总之，我们研究中一半的 HHT 患者存在眼部受累。这些眼部病变与 ENG 基因和 ACVRL1/ALK1 基因的突变有关。因此，ENG 基因增加了眼部病变的风险，而携带突变的 ACVRL1/ALK1 基因则降低了这种风险。
