Anti-HMGCR myopathy: barriers to prompt recognition.
Anti-HMGCR myopathy: barriers to prompt recognition.
复制标题
抗 HMGCR 肌病：及时识别的障碍。
DOI：
10.1136/pn-2022-003589
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发表时间：
2023
影响因子：
2.8
通讯作者：
Barp A
中科院分区：
文献类型：
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作者：
Barp A
抗HMGCR（3-羟基-3-甲基戊二酰辅酶A还原酶）肌病是一种免疫介导的坏死性肌病。不典型的表现妨碍了对它的认识和及时治疗。我们提出了两个不典型的临床或病理特征的患者。1例45岁女性无症状血清肌酸激酶（CK）约10 000 IU/L，肌肉活检显示轻微变化。然后，她发展缓慢进行性近端无力，诊断为肢带型肌营养不良症，但遗传学阴性。12年后，她的肌肉出现严重的近端无力，MR扫描显示弥漫性不对称脂肪变性，伴明显的高信号STIR信号异常。HMGCR抗体呈阳性，免疫抑制后部分改善。第2例患者出现缓慢进行性近端肢体无力伴血清CK升高（~4000 IU/L）;肌肉活检显示淋巴细胞浸润伴血管中心性分布，提示血管炎。血清HMGCR抗体阳性。抗HMGCR肌病可表现为具有非典型病理的缓慢进行性肌病。HMGCR抗体筛查适用于疑似肢带型肌营养不良或非典型炎症性肌肉疾病的患者。
Anti-HMGCR (3-hydroxy-3-methylglutaryl coenzyme A reductase) myopathy is an immune-mediated necrotising myopathy. Atypical presentations hinder its recognition and its prompt treatment. We present two patients with atypical clinical or pathological features. A 45-year-old woman had an asymptomatic serum creatine kinase (CK) of ~10 000 IU/L and muscle biopsy showing minimal changes. She then developed slowly progressive proximal weakness, diagnosed as limb-girdle muscular dystrophy but with negative genetics. Twelve years later, now with severe proximal weakness, her MR scan of muscle showed diffuse asymmetrical fatty degeneration, with conspicuous hyperintense STIR signal abnormalities. HMGCR antibodies were positive and she partially improved with immunosuppression. The second patient developed slowly progressive proximal limb weakness with a high serum CK (~4000 IU/L); muscle biopsy showed a lymphocyte infiltrate with angiocentric distribution suggesting vasculitis. Serum HMGCR antibodies were positive. Anti-HMGCR myopathy can present as a slowly progressive myopathy with atypical pathology. HMGCR antibody screening is indicated for people with suspected limb-girdle muscular dystrophy or atypical inflammatory muscle conditions.