Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia
<b>Background/Objectives</b>: Angiogenesis is involved in the pathogenesis of hereditary hemorrhagic telangiectasia (HHT). VEGF, ANG2, TGFβ1, and ENG are the most studied angiogenic factors, but their clinical significance in blood samples is still not completely defined. The genetic stu...
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2024-12-01
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| author | Sherlyne Jaimes-Díaz Gustavo Juan-Samper Susana Torres-Martínez Eva Escorihuela-Alares Silvia Calabuig-Fariñas Raquel Rodríguez-López Nieves Prieto-Colodrero Mercedes Ramon-Capilla Estrella Fernández-Fabrellas |
| author_facet | Sherlyne Jaimes-Díaz Gustavo Juan-Samper Susana Torres-Martínez Eva Escorihuela-Alares Silvia Calabuig-Fariñas Raquel Rodríguez-López Nieves Prieto-Colodrero Mercedes Ramon-Capilla Estrella Fernández-Fabrellas |
| author_sort | Sherlyne Jaimes-Díaz |
| collection | DOAJ |
| description | <b>Background/Objectives</b>: Angiogenesis is involved in the pathogenesis of hereditary hemorrhagic telangiectasia (HHT). VEGF, ANG2, TGFβ1, and ENG are the most studied angiogenic factors, but their clinical significance in blood samples is still not completely defined. The genetic study of HHT mutations is the test of choice for diagnosing the disease, but this route is expensive, and the causative mutation is not found in up to 10% of cases. Therefore, the use of angiogenic biomarkers could facilitate a cheaper and easier approach to the diagnosis of HHT. To determine the diagnostic and prognostic value of the VEGFA, TGFβ1, ANG2, and ENG plasmatic concentrations in patients with HHT. <b>Methods</b>: All the participants were clinically evaluated and the concentrations of these angiogenic factors were measured using MILLIPLEX<sup>®</sup>MAP immunoassays in plasma samples collected from 44 patients with HHT and 19 controls. To evaluate the diagnostic validity of these parameters, we estimated the maximum Youden index of the ROC curve and evaluated their diagnostic value using multiple logistic regression. <b>Results</b>: Patients with HHT had increased blood levels of TGFβ1 and decreased ENG compared to the control group. We could not identify any angiogenic markers related to the clinical severity or epistaxis. TGFβ1 and ENG exhibited a higher discriminant capacity for HHT, especially patients with HHT1, and it was possible to develop signatures of these factors with diagnostic value. <b>Conclusions</b>: We identified several angiogenic factors that may be important diagnostic biomarkers for HHT and propose that the combination of TGFβ1 and ENG could represent a signature with diagnostic value for this disease. |
| format | Article |
| id | doaj-art-a7e49ef7c266426cb3094d35f8e30039 |
| institution | OA Journals |
| issn | 2075-4418 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | MDPI AG |
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| series | Diagnostics |
| spelling | doaj-art-a7e49ef7c266426cb3094d35f8e300392025-08-20T02:00:27ZengMDPI AGDiagnostics2075-44182024-12-011424278310.3390/diagnostics14242783Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic TelangiectasiaSherlyne Jaimes-Díaz0Gustavo Juan-Samper1Susana Torres-Martínez2Eva Escorihuela-Alares3Silvia Calabuig-Fariñas4Raquel Rodríguez-López5Nieves Prieto-Colodrero6Mercedes Ramon-Capilla7Estrella Fernández-Fabrellas8Pneumology Department, General University Hospital of Valencia, 46014 Valencia, SpainPneumology Department, General University Hospital of Valencia, 46014 Valencia, SpainMolecular Oncology Laboratory, General University Hospital of Valencia, 46014 Valencia, SpainMolecular Oncology Laboratory, General University Hospital of Valencia, 46014 Valencia, SpainMolecular Oncology Laboratory, General University Hospital of Valencia, 46014 Valencia, SpainLaboratory of Molecular Genetics, General University Hospital of Valencia, 46014 Valencia, SpainHGUV Biobank, Research Foundation, General University Hospital of Valencia, 46014 Valencia, SpainPneumology Department, General University Hospital of Valencia, 46014 Valencia, SpainPneumology Department, General University Hospital of Valencia, 46014 Valencia, Spain<b>Background/Objectives</b>: Angiogenesis is involved in the pathogenesis of hereditary hemorrhagic telangiectasia (HHT). VEGF, ANG2, TGFβ1, and ENG are the most studied angiogenic factors, but their clinical significance in blood samples is still not completely defined. The genetic study of HHT mutations is the test of choice for diagnosing the disease, but this route is expensive, and the causative mutation is not found in up to 10% of cases. Therefore, the use of angiogenic biomarkers could facilitate a cheaper and easier approach to the diagnosis of HHT. To determine the diagnostic and prognostic value of the VEGFA, TGFβ1, ANG2, and ENG plasmatic concentrations in patients with HHT. <b>Methods</b>: All the participants were clinically evaluated and the concentrations of these angiogenic factors were measured using MILLIPLEX<sup>®</sup>MAP immunoassays in plasma samples collected from 44 patients with HHT and 19 controls. To evaluate the diagnostic validity of these parameters, we estimated the maximum Youden index of the ROC curve and evaluated their diagnostic value using multiple logistic regression. <b>Results</b>: Patients with HHT had increased blood levels of TGFβ1 and decreased ENG compared to the control group. We could not identify any angiogenic markers related to the clinical severity or epistaxis. TGFβ1 and ENG exhibited a higher discriminant capacity for HHT, especially patients with HHT1, and it was possible to develop signatures of these factors with diagnostic value. <b>Conclusions</b>: We identified several angiogenic factors that may be important diagnostic biomarkers for HHT and propose that the combination of TGFβ1 and ENG could represent a signature with diagnostic value for this disease.https://www.mdpi.com/2075-4418/14/24/2783plasmatic angiogenic biomarkersclinical significancehereditary hemorrhagic telangiectasia diagnosis |
| spellingShingle | Sherlyne Jaimes-Díaz Gustavo Juan-Samper Susana Torres-Martínez Eva Escorihuela-Alares Silvia Calabuig-Fariñas Raquel Rodríguez-López Nieves Prieto-Colodrero Mercedes Ramon-Capilla Estrella Fernández-Fabrellas Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia Diagnostics plasmatic angiogenic biomarkers clinical significance hereditary hemorrhagic telangiectasia diagnosis |
| title | Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia |
| title_full | Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia |
| title_fullStr | Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia |
| title_full_unstemmed | Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia |
| title_short | Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia |
| title_sort | diagnostic and prognostic value of angiogenic status in hereditary hemorrhagic telangiectasia |
| topic | plasmatic angiogenic biomarkers clinical significance hereditary hemorrhagic telangiectasia diagnosis |
| url | https://www.mdpi.com/2075-4418/14/24/2783 |
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