Iriarte, AdrianaOchoa Callejero, L.García Sanmartín, J.Cerdà, PauGarrido, P.Narro Íñiguez, J.Mora Luján, José MaríaJucglà, AnnaSánchez-Corral, M.A.Cruellas, F.Gamundi, EnricRibas, JesúsCastellote Alonso, JoséViñals Canals, FrancescMartínez, A.Riera Mestre, Antoni2022-03-142022-03-142021-04-200953-6205https://hdl.handle.net/2445/184104Background: Adrenomedullin (AM) is a vasoactive peptide mostly secreted by endothelial cells with an important role in preserving endothelial integrity. The relationship between AM and hereditary hemorrhagic telangiectasia (HHT) is unknown. We aimed to compare the serum levels and tissue expression of AM between HHT patients and controls. Methods: Serum AM levels were measured by radioimmunoassay and compared between control and HHT groups. AM levels were also compared among HHT subgroups according to clinical characteristics. The single nucleotide polymorphism (SNP) rs4910118 was assessed by restriction analysis and sequencing. AM immunohistochemistry was performed on biopsies of cutaneous telangiectasia from eight HHT patients and on the healthy skin from five patients in the control group. Results: Forty-five HHT patients and 50 healthy controls were included, mean age (SD) was 50.7 (14.9) years and 46.4 (9.9) years (p = 0.102), respectively. HHT patients were mostly female (60% vs 38%, p = 0.032). Median [Q1-Q3] serum AM levels were 68.3 [58.1-80.6] pg/mL in the HHT group and 47.7 [43.2-53.8] pg/mL in controls (p<0.001), with an optimal AM cut-off according to Youden's J statistic of 55.32 pg/mL (J:0.729). Serum AM levels were similar in the HHT subgroups. No patient with HHT had the SNP rs4910118. AM immunoreactivity was found with high intensity in the abnormal blood vessels of HHT biopsies.7 p.application/pdfengcc-by (c) Iriarte, Adriana et al., 2021https://creativecommons.org/licenses/by/4.0/Malalties raresHormones peptídiquesVasos sanguinisHemorràgiaRare diseasesPeptide hormonesBlood vesselsHemorrhageinfo:eu-repo/semantics/article7160552022-03-14info:eu-repo/semantics/openAccess33888392