학술논문

Pilot investigation of circulating angiogenic and inflammatory biomarkers associated with vascular malformations
Document Type
article
Source
Orphanet Journal of Rare Diseases. 16(1)
Subject
Biomedical and Clinical Sciences
Clinical Sciences
Congenital Structural Anomalies
Neurosciences
Pediatric
Clinical Research
Prevention
Rare Diseases
Brain Disorders
4.1 Discovery and preclinical testing of markers and technologies
Detection
screening and diagnosis
Biomarkers
Humans
Intracranial Arteriovenous Malformations
Pilot Projects
Prospective Studies
Telangiectasia
Hereditary Hemorrhagic
Vascular Malformations
Vascular malformations
HHT
CCM
Other Medical and Health Sciences
Genetics & Heredity
Genetics
Clinical sciences
Language
Abstract
BackgroundVascular 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.MethodsA validated multiplex protein array consisting of 26 angiogenic and inflammatory biomarkers (Angiome) was assessed in plasma isolated from healthy controls and patients with either sporadic brain arteriovenous malformation (BAVM), familial cerebral cavernous malformation (CCM), or hereditary hemorrhagic telangiectasia (HHT). These samples were obtained from archives of ongoing research studies at the University of California San Francisco and through prospective collection at the Toronto HHT Centre at St. Michael's Hospital.ResultsWe 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