Diagnostic and Prognostic Value of Angiogenic Status in Hereditary Hemorrhagic Telangiectasia
Author Information
Author(s): Jaimes-Díaz Sherlyne, Juan-Samper Gustavo, Torres-Martínez Susana, Escorihuela-Alares Eva, Calabuig-Fariñas Silvia, Rodríguez-López Raquel, Prieto-Colodrero Nieves, Ramon-Capilla Mercedes, Fernández-Fabrellas Estrella
Primary Institution: General University Hospital of Valencia, Spain
Hypothesis
The study aims to determine the diagnostic and prognostic value of VEGFA, TGFβ1, ANG2, and ENG plasmatic concentrations in patients with hereditary hemorrhagic telangiectasia (HHT).
Conclusion
The study identified several angiogenic factors that may serve as important diagnostic biomarkers for HHT, particularly the combination of TGFβ1 and ENG.
Supporting Evidence
- Patients with HHT had increased blood levels of TGFβ1 and decreased ENG compared to the control group.
- TGFβ1 and ENG exhibited a higher discriminant capacity for HHT diagnosis.
- The combination of TGFβ1 and ENG could represent a signature with diagnostic value for HHT.
Takeaway
Doctors can use certain blood markers to help diagnose a rare disease called hereditary hemorrhagic telangiectasia, which causes abnormal blood vessels.
Methodology
The study measured angiogenic factor concentrations in plasma samples from 44 patients with HHT and 19 controls using MILLIPLEX®MAP immunoassays.
Potential Biases
The biomarkers were measured in different clinical situations of HHT, which could have influenced their expression levels.
Limitations
The study had a small sample size and no established reference cut-offs for the biomarkers.
Participant Demographics
Among the 44 patients, 38 had a definitive HHT diagnosis, 5 had a possible diagnosis, and 1 was an asymptomatic carrier; age and sex were similar between patients and controls.
Statistical Information
P-Value
p < 0.001 for TGFβ1, p = 0.001 for ENG
Confidence Interval
95% confidence interval for AUC of TGFβ1 and ENG combined is 0.80 (0.69–0.91)
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
Want to read the original?
Access the complete publication on the publisher's website