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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.

Current HHT genetic overview in Spain and its phenotypic correlation: data from RiHHTa registry