New biomarker holds promise for monitoring heart disease

Led by principal investigator Raphael Schiffmann, MD, (Director of Baylor's Institute for Metabolic Disease, part of Baylor Research Institute), the study found that patients with a higher level of the urinary lipid globotriaosylceramide (Gb3) may be at greater risk for near-term death as a result of heart disease. The presence of elevated urinary Gb3, along with other lipids, indicated for the first time that heart disease is linked to lipid abnormalities in organs outside of the heart in patients with common forms of heart disease.

Originally, the trial was designed as a screening study for Fabry disease, a rare genetic condition that triggers heart complications. Investigators performed urinary analyses in search of elevated Gb3 levels, which is common in Fabry disease patients.

"To our surprise, we noticed after a few months that some heart disease patients who did not have Fabry disease did have elevated Gb3 in the urine," Dr. Schiffmann said. "Simultaneously, we also found that some of those patients had died in the short interval that had passed since we had last seen them for this screening study."

With excellent statistical support, Dr. Schiffmann and his team then found that heart disease patients with higher Gb3 levels face a higher risk of death, compared to those without elevated volumes of the lipid in their urine.

"This was a very surprising, yet encouraging, discovery, given the fact that Gb3 elevation was -- until now -- thought to be the exclusive hallmark of Fabry disease," Dr. Schiffmann said. "Remarkably, this biomarker is significantly different from existing ones and could be of great significance for the future study of heart disease."

Dr. Schiffmann added that continued research is needed in order to fully explore Gb3 and other lipids as heart disease biomarkers. The research was performed as a result of collaboration between Baylor's cardiology network through Baylor Health Care System and the Institute of Metabolic Disease.