Circulating Anti-GB3 Antibody as Biomarker of Myocardial Inflammation in patients with Fabry Disease Cardiomyopathy
- 1.5 Years 2020/2021
- 0€ Total Award
Fabry disease is a rare X-linked inborn error of glycosphingolipid catabolism caused by
mutations in the alpha-galactosidase A gene. The disease involves different organs and tissues including kidney, brain and heart. Cardiac involvement has drawn much attention as it is a major determinant of patients’ survival and quality of life. Fabry disease has a specific treatment consisting in the administration of the Enzyme Replacement Terapy (ERT).
Recently myocardial inflammation of autoimmune origin has been demonstrated in patients resistant to ERT. These observations forward the need of a sensitive and specific serologic biomarker of myocardial inflammation in order to halt, through administration of low dose immunosuppression, its deleterious effect on disease progression and ERT resistance.
Aim of the study is the assessment of circulating anti-GB3 antibody as biomarker of myocardial inflammation in patients with Fabry disease cardiomyopathy. Circulating levels of
proinflammatory cytokines will be additionally obtained in order to evaluate the systemic reflexes of myocardial inflammation. From January 1996 to December 2018, 85 patients received in our Department the histological diagnosis of Fabry disease cardiomyopathy. Of these 85, 48 patients had an overlapping myocardial inflammation. The presence of antiGB3 antibodies will be retrospectively evaluated in the sera from all the 85 patients and controls. Circulating levels of anti-GB3 autoantibodies will be compared with the presence or absence of myocardial inflammation at histology and with the severity of Fabry disease cardiomyopathy. Circulating levels of systemic inflammatory biomarkers and Lyso-GB3 levels will be also assessed to define the burden of the disease. Based on our preliminary results, we expect to confirm that circulating anti GB3 antibodies represent a sensitive and specific biomarker of myocardial inflammation in patients with Fabry disease cardiomyopathy.
