Lack of evident atherosclerosis despite multiple risk factors in glycogen storage disease type 1a with...

We report a 60-year-old Japanese patient with glycogen storage disease type 1a (GSD1a) who was thoroughly evaluated for risk factors of atherosclerosis. As often observed in patients with GSD1a, this patient has multiple risk factors for atherosclerosis including hyperlipidemia, hypertension, glucose intolerance with insulin resistance, and chronic kidney disease. However, she lacked clinically evident atherosclerosis as generally observed in GSD1a patients. Unexpectedly, this patient had marked hyperadiponectinemia (27.6 microg/mL; reference range, 4.1-18.9 microg/mL) with increase in the ratio of high-molecular weight to total adiponectin. Although the reason for the hyperadiponectinemia was not clear, at least it seemed to protect against enhanced atherosclerogenesis otherwise promoted by a battery of risk factors. Although further studies are needed, hyperadiponectinemia in addition to hypoinsulinemia might explain at least in part the lack of evident atherosclerosis in patients with GSD1a.