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Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study.
Med Sci Monit. 2019 Nov 30; 25:9103-9111.MS

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 AND

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.

Authors+Show Affiliations

Department of Neurology, Harrison International Peace Hospital, Hengshui, Hebei, China (mainland).Department of Neurology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China (mainland). Institute of Cardiocerebrovascular Disease, Shijiazhuang, Hebei, China (mainland). Neurological Laboratory of Hebei Province, Shijiazhuang, Hebei, China (mainland).Department of Neurology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China (mainland).Department of Neurology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China (mainland).Department of Cardiology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China (mainland).Department of Neurology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China (mainland). Institute of Cardiocerebrovascular Disease, Shijiazhuang, Hebei, China (mainland). Neurological Laboratory of Hebei Province, Shijiazhuang, Hebei, China (mainland).

Pub Type(s)

Clinical Study
Journal Article

Language

eng

PubMed ID

31785094

Citation

Han, Jingzhe, et al. "Adolescent Hyperuricemia With Lipid Storage Myopathy: a Clinical Study." Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, vol. 25, 2019, pp. 9103-9111.
Han J, Song X, Lu S, et al. Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study. Med Sci Monit. 2019;25:9103-9111.
Han, J., Song, X., Lu, S., Ji, G., Xie, Y., & Wu, H. (2019). Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study. Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 25, 9103-9111. https://doi.org/10.12659/MSM.918841
Han J, et al. Adolescent Hyperuricemia With Lipid Storage Myopathy: a Clinical Study. Med Sci Monit. 2019 Nov 30;25:9103-9111. PubMed PMID: 31785094.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Adolescent Hyperuricemia with Lipid Storage Myopathy: A Clinical Study. AU - Han,Jingzhe, AU - Song,Xueqin, AU - Lu,Shan, AU - Ji,Guang, AU - Xie,Yanan, AU - Wu,Hongran, Y1 - 2019/11/30/ PY - 2019/12/1/entrez PY - 2019/12/1/pubmed PY - 2020/5/22/medline SP - 9103 EP - 9111 JF - Medical science monitor : international medical journal of experimental and clinical research JO - Med. Sci. Monit. VL - 25 N2 - 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 AND 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. SN - 1643-3750 UR - https://www.unboundmedicine.com/medline/citation/31785094/Adolescent_Hyperuricemia_with_Lipid_Storage_Myopathy:_A_Clinical_Study_ L2 - https://www.medscimonit.com/download/index/idArt/918841 DB - PRIME DP - Unbound Medicine ER -