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Title: | Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry |
Author: | Sánchez Martínez, Rosario Iriarte, Adriana Mora Luján, José María Patier, José Luis López Wolf, Daniel Ojeda, Ana Torralba, Miguel Angel Juyol, María Coloma Gil, Ricardo Añón, Sol Salazar-Mendiguchía, Joel Riera Mestre, Antoni RiHHTa Investigators of the Rare Diseases Working Group |
Keywords: | Malalties rares Hemorràgia Rare diseases Hemorrhage |
Issue Date: | 25-May-2020 |
Publisher: | BioMed Central |
Abstract: | Background: 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. Conclusions: ACVRL1 variants are more frequent than ENG in Spain. ACVRL1 patients developed symptomatic liver disease and anemia more often than ENG patients. Compared to ACVRL1, those with ENG variants are younger at diagnosis and show pulmonary and cerebral AVMs more frequently. |
Note: | Reproducció del document publicat a: https://doi.org/10.1186/s13023-020-01422-8 |
It is part of: | Orphanet Journal of Rare Diseases, 2020, vol. 15, num. 138 |
URI: | http://hdl.handle.net/2445/171970 |
Related resource: | https://doi.org/10.1186/s13023-020-01422-8 |
ISSN: | 1750-1172 |
Appears in Collections: | Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL)) Articles publicats en revistes (Ciències Clíniques) |
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