Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study

Abstract

Background: In this study, we investigated the clinical and pathological features of patients with lipid storage myopathy (LSM) complicated with hyperuricemia, to improve clinicians' understanding of metabolic multi-muscular disorder with metabolic disorders, and to reduce the risk of missed diagnosis of LSM. Material/Methods: From January 2005 to December 2017, 8 patients underwent muscle biopsy and diagnosed by muscle pathology and genetic testing in our hospital. All 8 patients were in compliance with LSM diagnosis. We collected data on the patient's clinical performance, adjuvant examination, treatment, and outcomes to provide a comprehensive report and description of LSM patients with hyperuricemia. Results: All patients were diagnosed as having ETFDH gene mutations. The main clinical manifestations of patients were chronic limb and trunk weakness, limb numbness, and muscle pain. The serum creatine kinase (CK) values in all patients were higher than normal values. Electromyography showed 3 cases of simple myogenic damage and 3 cases of neurogenic injury. Hematuria metabolic screening showed that 2 patients had elevated glutaric aciduria, and 1 patient had elevated fatty acyl carnitine in the blood. All patients were given riboflavin treatment, and the clinical symptoms were significantly improved, and 3 patients returned to normal uric acid levels after treatment. Pathological staining showed an abnormal deposition of lipid droplets in muscle fibers. Conclusions: If an adolescent hyperuricemia patient has abnormal limb weakness, exercise intolerance, and elevated serum CK values, clinicians need to be highly alert to the possibility of LSM. Early diagnosis and treatment of LSM should improve the clinical symptoms and quality of life and reduce complications.

A rare case report: Myopathy related to the interaction between azathioprine and infliximab in the treatment of ulcerative colitis and ankylosing spondylitis

“…Drug-induced myopathy is characterized by acute symptoms such as myogenic damage, muscle pain, and elevated CK levels in patients without preexisting muscle conditions, who have been exposed to therapeutic doses of certain drugs. 6,8 The diverse causes of drug-induced myopathy lead to clinical or biochemical signs of muscle involvement, typically improving upon discontinuation of the suspected drug; thus, confirming the diagnosis of drug-induced myopathy. However, despite understanding the causative factors, predicting the occurrence of drug-induced myopathy in clinical practice remains challenging.…”

Lipid storage myopathy due to late-onset multiple Acyl-CoA dehydrogenase deficiency with novel mutations in ETFDH: A case report

“…In this case, the patient was diagnosed with hyperuricemia in the first hospital, but his uric acid decreased gradually after taking riboflavin without using a uric acid-lowering drug. A study involving eight patients with LSM complicated by hyperuricemia found that men with LSM are more likely to develop hyperuricemia than women with LSM because of the benefit of estrogen ( 8 ). The cause of hyperuricemia is mainly related to decreased uric acid excretion, which could be explained by renal tubular disorder.…”

Function of Uric Acid Transporters and Their Inhibitors in Hyperuricaemia

“…Over time, long-term high serum uric acid (SUA) may cause many complications. Current studies have shown that 1) anomalous high SUA level is likely to induce a series of cardiovascular diseases, and acts as an independent risk factor for cardiovascular diseases, including atherosclerosis, hypertension, and coronary heart disease (Edwards, 2009); 2) obesity can cause hyperuricaemia, further leading to lipid metabolism disorder and chronic diseases (Fernandes Silva et al, 2019;Jingzhe Han et al, 2019); 3) in patients with diabetes, high uric acid (UA) further damages pancreatic cells and worsens diabetic condition (Changgui Li and Chang, 2013;Yun-Hong Lu et al, 2020). In summary, hyperuricaemia has become a key risk factor for development of many serious diseases.…”