FABRY DISEASE CLINICAL MANIFESTATIONS Extracellular matrix turnover and disease severity in Anderson-Fabry disease

摘要

Background: Anderson-Fabry disease (AFD) is an inherited metabolic disease associated with premature death from cardiovascular and renal disease. Recent studies have shown that patients with AFD develop progressive left-ventricular (LV) remodelling. We hypothesized that patients with AFD have abnormal extracellular matrix (ECM) turn over compared with normal controls.Methods and Results: Twenty-nine (mean age ( + SD), 44.1 + 11.7 years; 15 male) consecutive patients with AFD and 21 age- and gender-matched controls (mean age, 39.7 + 11.3 years; 10 male) had serum analysed for matrix metalloproteinase-9 (MMP-9), tissue inhibitor of metallo-proteinase (TIMP)-l and -2 levels using an in-house enzyme-linked immunosorbent assay. MMP-9 levels were significantly elevated in patients compared with controls (mean difference from controls, 427.1 ng/ml, 95% CI, 252.1-602.2 ng/ml, p< 0.001).