Anti-3-hydroxy-3-methylglutaryl-coenzyme a reductase necrotizing myopathy masquerading as a muscular dystrophy in a child

2017 ◽  
Vol 56 (6) ◽  
pp. 1177-1181 ◽  
Author(s):  
Payam Mohassel ◽  
A. Reghan Foley ◽  
Sandra Donkervoort ◽  
Pierre R. Fequiere ◽  
Katherine Pak ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Coenzyme A ◽  
Necrotizing Myopathy ◽  
Coenzyme A Reductase

scholarly journals Childhood-onset anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase (anti-HMGCR) necrotizing myopathy needs to be distinguished from muscular dystrophy: A case study

2017 ◽  
Vol 57 (10) ◽  
pp. 567-572 ◽  
Author(s):  
Yuka Hama ◽  
Madoka Mori-Yoshimura ◽  
Hirofumi Komaki ◽  
Shigeaki Suzuki ◽  
Hitoshi Kohsaka ◽  
...  
Keyword(s):  
Muscular Dystrophy ◽  
Coenzyme A ◽  
Childhood Onset ◽  
Necrotizing Myopathy ◽  
Coenzyme A Reductase

Clinical and genetic associations of autoantibodies to 3-hydroxy-3-methyl-glutaryl-coenzyme a reductase in patients with immune-mediated myositis and necrotizing myopathy

2015 ◽  
Vol 52 (2) ◽  
pp. 196-203 ◽  
Author(s):  
Vidya Limaye ◽  
Chris Bundell ◽  
Peter Hollingsworth ◽  
Arada Rojana-Udomsart ◽  
Frank Mastaglia ◽  
...  
Keyword(s):  
Coenzyme A ◽  
Genetic Associations ◽  
Necrotizing Myopathy ◽  
Immune Mediated ◽  
Coenzyme A Reductase

scholarly journals Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies

Rheumatology ◽  
2016 ◽  
Vol 56 (2) ◽  
pp. 287-293 ◽  
Author(s):  
Wen-Chen Liang ◽  
Akinori Uruha ◽  
Shigeaki Suzuki ◽  
Nobuyuki Murakami ◽  
Eri Takeshita ◽  
...  
Keyword(s):  
Coenzyme A ◽  
Necrotizing Myopathy ◽  
Coenzyme A Reductase

Immune-mediated myopathy related to anti 3-hydroxy-3-methylglutaryl-coenzyme A reductase antibodies as an emerging cause of necrotizing myopathy induced by statins

2014 ◽  
Vol 81 (1) ◽  
pp. 79-82 ◽  
Author(s):  
Clément Lahaye ◽  
Anne Marie Beaufrére ◽  
Olivier Boyer ◽  
Laurent Drouot ◽  
Martin Soubrier ◽  
...  
Keyword(s):  
Coenzyme A ◽  
Necrotizing Myopathy ◽  
Immune Mediated ◽  
Coenzyme A Reductase

Pediatric necrotizing myopathy associated with anti-3-hydroxy-3-methylglutaryl–coenzyme a reductase antibodies

2016 ◽  
Vol 26 ◽  
pp. S143-S144 ◽  
Author(s):  
W. Liang ◽  
A. Uruha ◽  
S. Suzuki ◽  
H. Komaki ◽  
W. Zhu ◽  
...  
Keyword(s):  
Coenzyme A ◽  
Necrotizing Myopathy ◽  
Coenzyme A Reductase

scholarly journals Diagnostic modelling and therapeutic monitoring of immune-mediated necrotizing myopathy: role of electrical myotonia

2020 ◽  
Vol 2 (2) ◽  
Author(s):  
James D Triplett ◽  
Shahar Shelly ◽  
Guy Livne ◽  
Margherita Milone ◽  
Charles D Kassardjian ◽  
...  
Keyword(s):  
Creatine Kinase ◽  
Odds Ratio ◽  
Coenzyme A ◽  
Signal Recognition Particle ◽  
Delayed Diagnosis ◽  
Signal Recognition ◽  
Necrotizing Myopathy ◽  
Immune Mediated ◽  
Chronic Course ◽  
Coenzyme A Reductase

Abstract Delayed diagnosis of immune-mediated necrotizing myopathy leads to increased morbidity. Patients with the chronic course without 3-hydroxy-3-methylglutaryl-coenzyme-A reductase-IgG or signal recognition particle-IgG are often challenging to diagnose. Immunotherapy response can also be difficult to assess. We created a statistical model to assist immune-mediated necrotizing myopathy diagnosis. Electrical myotonia versus fibrillations were reviewed as biomarkers for immunotherapy treatment response. Identified were 119 immune-mediated necrotizing myopathy cases and 938 other myopathy patients. Inclusion criteria included all having electrophysiological evaluations, muscle biopsies showing inflammatory/necrotizing myopathies, comprehensively recorded neurological examinations, and creatine kinase values. Electrical myotonia was recorded in 56% (67/119) of retrospective and 67% (20/30) of our validation immune-mediated necrotizing myopathy cohorts, and significantly (P < 0.001) favoured immune-mediated necrotizing myopathy over other myopathies: sporadic inclusion body myositis (odds ratio = 4.78); dermatomyositis (odds ratio = 10.61); non-specific inflammatory myopathies (odds ratio = 8.46); limb-girdle muscular dystrophies (odds ratio = 5.34) or mitochondrial myopathies (odds ratio = 14.17). Electrical myotonia occurred in immune-mediated necrotizing myopathy seropositive (3-hydroxy-3-methylglutaryl-coenzyme-A reductase-IgG 70%, 37/53; signal recognition particle-IgG 29%, 5/17) and seronegative (51%, 25/49). Multivariate regression analysis of 20 variables identified 8 (including electrical myotonia) in combination accurately predicted immune-mediated necrotizing myopathy (97.1% area-under-curve). The model was validated in a separate cohort of 30 immune-mediated necrotizing myopathy cases. Delayed diagnosis of cases with electrical myotonia occurred in 24% (16/67, mean 8 months; range 0–194). Half (8/19) had a chronic course and were seronegative, with high model prediction (>86%) at the first visit. Inherited myopathies were commonly first suspected in them. Follow-up evaluation in patients with electrical myotonia on immunotherapy was available in 19 (median 21 months, range 2–124) which reduced from 36% (58/162) of muscles to 7% (8/121; P < 0.001). Reduced myotonia correlated with immunotherapy response in 64% (9/14) as well as with median creatine kinase reduction of 1779 U/l (range 401–9238, P < 0.001). Modelling clinical features with electrical myotonia is especially helpful in immune-mediated necrotizing myopathy diagnostic suspicion among chronic indolent and seronegative cases. Electrical myotonia favours immune-mediated necrotizing myopathy diagnosis and can serve as an adjuvant immunotherapy biomarker.

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