Division of Rheumatology, Department of Internal Medicine, Eskişehir Osmangazi University, 26480, Eskişehir, Turkey.
Department of Pathology, Eskişehir City Hospital, Eskişehir, Turkey.
Clin Rheumatol. 2019 Oct;38(10):2941-2948. doi: 10.1007/s10067-019-04572-8. Epub 2019 May 1.
Gout disease is an inflammatory arthritis that arises due to the accumulation of monosodium urate crystals (MSU) around the joints and in tissues. Clinical manifestation of metabolic diseases leading to secondary hyperuricemia most predominantly occurs in the form of gouty arthritis. Hyperuricemia and gout may develop during the course of glycogen storage diseases (GSD), particularly in GSD type I, which involves the liver. On the other hand, during the course of GSD type V (GSDV, McArdle's disease), which merely affects the muscle tissue due to the deficiency of the enzyme myophosphorylase, hyperuricemia and/or gout is rarely an expected symptom. These patients may mistakenly be diagnosed as having idiopathic hyperuricemia and associated gout, leading to the underlying secondary causes be overlooked and thus, diagnostic delays may occur. In this case report, we present a premenopausal female patient who experienced flare-ups of chronic arthritis while on disease-modifying antirheumatic drugs and intraarticular steroids due to a diagnosis of undifferentiated arthritis. The patient was initially suspected of having gouty arthritis because elevated concentrations of uric acid were incidentally detected, but then, a diagnosis of asymptomatic GSDV was made owing to elevated concentrations of muscle enzymes during colchicine use. Our aims were to remind rheumatologists of the phenomenon of "myogenic hyperuricemia" and to discuss the potential causes of hyperuricemia that develop during GSD along with the available literature.
痛风病是一种炎症性关节炎，由于单钠尿酸盐晶体（MSU）在关节和组织周围积聚而引起。代谢性疾病导致的继发性高尿酸血症的临床表现主要以痛风性关节炎的形式出现。高尿酸血症和痛风可能在糖原贮积病（GSD）的病程中发展，特别是涉及肝脏的 GSD 型 I。另一方面，在仅因酶肌磷酸化酶缺乏而影响肌肉组织的 GSD 型 V（GSDV，McArdle 病）的病程中，高尿酸血症和/或痛风很少是预期的症状。这些患者可能会被误诊为特发性高尿酸血症和相关痛风，从而忽略潜在的继发性原因，因此可能会出现诊断延迟。在本病例报告中，我们介绍了一位绝经前女性患者，她在使用疾病修饰抗风湿药物和关节内类固醇治疗未分化关节炎时，由于慢性关节炎发作而出现病情加重。最初怀疑该患者患有痛风性关节炎，因为偶然发现尿酸浓度升高，但随后在使用秋水仙碱时肌肉酶浓度升高，诊断为无症状 GSDV。我们的目的是提醒风湿病医生注意“肌源性高尿酸血症”的现象，并结合现有文献讨论 GSD 期间发生高尿酸血症的潜在原因。
