A Multidisciplinary Approach for Tophi Wounds Caused by Glycogen Storage Disease Type 1a: A Rare Case

Abstract

Glycogen storage diseases (GSDs) are a group of rare inherited metabolic disorders caused by enzyme deficiencies in glycogen catabolism. The more common type, GSD type Ia, is caused by glucose-6-phosphatase deficiency and often complicated by gout from hyperuricemia. Here, the authors report a rare case of a tophi wound caused by GSD type Ia in a Chinese patient. Difficulties in this case included the control of abnormal blood markers, especially uric acid; removal of tophi deposited in the tissues; restoration of hand function after wound healing; and patient adherence to treatment and follow-up. A multidisciplinary team was set up consisting of experts from the authors' wound care center and the departments of endocrinology, orthopedics, and rehabilitation. The wound healed in 53 days and was followed up for about 7 months. During follow-up, the patient's hand function returned to normal, and no new tophi formed. Because GSDs are a congenital lifelong condition, regular follow-ups are especially important.