Research progress of anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase myopathy
10.3760/cma.j.cn113694-20221221-00959
- VernacularTitle:抗3-羟基-3-甲基戊二酰辅酶 A 还原酶肌病研究进展
- Author:
Mengting YANG
1
;
Yawen ZHAO
;
Yiming ZHENG
;
Wei ZHANG
;
Zhaoxia WANG
;
Yun YUAN
Author Information
1. 北京大学第一医院神经内科，北京100034
- Keywords:
Immune mediated necrotizing myopathy;
3-Hydroxy-3-methylglutaryl-coenzyme A reductase;
Anti-HMGCR antibody;
Anti-HMGCR myopathy
- From:
Chinese Journal of Neurology
2023;56(9):1066-1071
- CountryChina
- Language:Chinese
-
Abstract:
Anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (HMGCR) myopathy is one of the subtypes of immune-mediated necrotizing myopathy. Anti-HMGCR antibodies induce complement activation,subsequently resulting in myofiber necrosis,regeneration with autophagy abnormalities and mitochondrial changes. The age of onset is from children to adulthood. Some patients have a history of exposure to statins. Most patients are subacute onset. The patients with chronic progressive process, are more like muscular dystrophy. The main symptoms are proximal symmetrical weakness of limbs and usually accompanied with extra-muscle symptoms. The MRI showed muscle edema in all patients and fatty infiltrates in some patients. Myositis-specific auto-antibodies and muscle biopsies play key roles in diagnosis of HMGCR myopathy. Corticosteroids and immunosuppressants were first line therapy. Pediatric patients or patients with chronic course are usually refractory, and the efficacy of different combinations of immunosuppressants needs to be further investigated.
