Vascular malformations in the central nervous system are difficult to monitor and treat due to their inaccessible location. Angiogenic and inflammatory
proteins are secreted into the bloodstream and may serve as useful
biomarkers for identifying patients at risk for complications or with certain disease phenotypes.
METHODS: RESULTS: We compared circulating
biomarker levels from each patient group to healthy controls and analyzed each pairwise combination of patient groups for differences in
biomarker levels. Additionally, we analyzed the HHT samples to determine the association between
biomarker levels and the following HHT-specific phenotypes, BAVM, pulmonary
arteriovenous malformation (PAVM), liver
vascular malformation (LVM), and gastrointestinal (GI)
bleeding. Compared to controls, levels of SDF1 were significantly elevated in HHT patients (Proportional Increase [PI] = 1.87, p < 0.001, q = 0.011). Levels of sENG were significantly reduced in HHT patients compared to controls (PI = 0.56, p < 0.001, q < 0.001), reflecting the prevalence of HHT1 patients in this cohort. Levels of
IL6 (PI = 3.22, p < 0.001, q < 0.001) and sTGFβR3 (PI = 0.70, p = 0.001, q < 0.029) differed significantly in CCM patients compared to controls. Compared to controls, ten of the
biomarkers were significantly different in sporadic BAVM patients (q-values < 0.05). Among the pairwise combinations of patient groups, a significant elevation was observed in TGFβ1 in CCM patients compared to sporadic BAVM patients (PI = 2.30, p < 0.001, q = 0.034). When examining the association of circulating
biomarker levels with HHT-specific phenotypes, four markers were significantly lower in HHT patients with BAVM (q-values < 0.05), and four markers were significantly higher in patients with LVM (q-values < 0.05).
CONCLUSIONS: