2023-07-142023-07-142020Sánchez-Martínez, R., Iriarte, A., Mora-Luján, J.M., Patier, J.L., López-Wolf, D., Ojeda, A.,...,García Morillo, J.S. (2020). Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry. Orphanet journal of rare diseases, 15 (1), 138. https://doi.org/10.1186/s13023-020-01422-8.1750-1172https://hdl.handle.net/11441/147973Background: Hereditary hemorrhagic telangiectasia (HHT) is a rare vascular disease with autosomal dominant inheritance. Disease-causing variants in endoglin (ENG) and activin A receptor type II-like 1 (ACVRL1) genes are detected in more than 90% of cases submitted to molecular diagnosis. Methods: We used data from the RiHHTa (Computerized Registry of Hereditary Hemorrhagic Telangiectasia) registry to describe genetic variants and to assess their genotype-phenotype correlation among HHT patients in Spain. Results: By May 2019, 215 patients were included in the RiHHTa registry with a mean age of 52.5 ± 16.5 years and 136 (63.3%) were women. Definitive HHT diagnosis defined by the Curaçao criteria were met by 172 (80%) patients. Among 113 patients with genetic test, 77 (68.1%) showed a genetic variant in ACVRL1 and 36 (31.8%) in ENG gene. The identified genetic variants in ACVRL1 and ENG genes and their clinical significance are provided. ACVRL1 mutations were more frequently nonsense (50%) while ENG mutations were more frequently, frameshift (39.1%). ENG patients were significantly younger at diagnosis (36.9 vs 45.7 years) and had pulmonary arteriovenous malformations (AVMs) (71.4% vs 24.4%) and cerebral AVMs (17.6% vs 2%) more often than patients with ACVRL1 variants. Patients with ACVRL1 variants had a higher cardiac index (2.62 vs 3.46), higher levels of hepatic functional blood tests, and anemia (28.5% vs 56.7%) more often than ENG patients.application/pdf8 pág.engAtribución 4.0 Internacionalhttp://creativecommons.org/licenses/by/4.0/Genetic testGenotypeHereditary hemorrhagic telangiectasiaPhenotypeRare diseasesinfo:eu-repo/semantics/articleinfo:eu-repo/semantics/openAccesshttps://doi.org/10.1186/s13023-020-01422-8