Atypical presentation of anti-HMGCR myopathy. 2021

Rahul Karna, and Richa Singh, and Cody Marshall, and Alexandra Johnston
Internal Medicine, Allegheny General Hospital, Pittsburgh, Pennsylvania, USA rahulkarnagovind@gmail.com.

Immune-mediated necrotising myopathy is a subtype of idiopathic inflammatory myopathy characterised by muscle fibre necrosis without significant inflammatory infiltrate. Anti-3-hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) myopathy is seen in 6%-10% of idiopathic inflammatory myopathy and is diagnosed in the context of elevated serum creatine kinase levels, proximal muscle weakness and anti-HMGCR autoantibodies. We recently encountered a 61-year-old man with anti-HMGCR myopathy with an atypical skin manifestation, partially responsive to triple therapy with steroids, intravenous immunoglobulin (IVIG) and rituximab. To our knowledge, there have been only four reported cases of skin rash associated with anti-HMGCR myopathy. Our case demonstrates the importance of recognising atypical manifestations of anti-HMGCR myopathy. Early addition of IVIG and rituximab is also critical in patients not responding to steroid monotherapy. Delay in achieving remission leads to prolonged steroid use, lower likelihood of beginning physical therapy and overall worse clinical outcomes.

UI MeSH Term Description Entries
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009135 Muscular Diseases Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE. Muscle Disorders,Myopathies,Myopathic Conditions,Muscle Disorder,Muscular Disease,Myopathic Condition,Myopathy
D009220 Myositis Inflammation of a muscle or muscle tissue. Inflammatory Myopathy,Myositis, Focal,Myositis, Infectious,Idiopathic Inflammatory Myopathies,Idiopathic Inflammatory Myopathy,Idiopathic Inflammatory Myositis,Infectious Myositis,Inflammatory Muscle Diseases,Inflammatory Myopathies, Idiopathic,Inflammatory Myopathy, Idiopathic,Muscle Diseases, Inflammatory,Myopathies, Idiopathic Inflammatory,Myopathy, Inflammatory,Myositis, Proliferative,Focal Myositides,Focal Myositis,Infectious Myositides,Inflammatory Muscle Disease,Inflammatory Myopathies,Muscle Disease, Inflammatory,Myopathies, Inflammatory,Myopathy, Idiopathic Inflammatory,Myositides,Myositides, Focal,Myositides, Infectious,Myositides, Proliferative,Proliferative Myositides,Proliferative Myositis
D010088 Oxidoreductases The class of all enzymes catalyzing oxidoreduction reactions. The substrate that is oxidized is regarded as a hydrogen donor. The systematic name is based on donor:acceptor oxidoreductase. The recommended name will be dehydrogenase, wherever this is possible; as an alternative, reductase can be used. Oxidase is only used in cases where O2 is the acceptor. (Enzyme Nomenclature, 1992, p9) Dehydrogenases,Oxidases,Oxidoreductase,Reductases,Dehydrogenase,Oxidase,Reductase
D003067 Coenzymes Small molecules that are required for the catalytic function of ENZYMES. Many VITAMINS are coenzymes. Coenzyme,Enzyme Cofactor,Cofactors, Enzyme,Enzyme Cofactors,Cofactor, Enzyme
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D006903 Hydroxymethylglutaryl CoA Reductases Enzymes that catalyze the reversible reduction of alpha-carboxyl group of 3-hydroxy-3-methylglutaryl-coenzyme A to yield MEVALONIC ACID. HMG CoA Reductases,3-Hydroxy-3-methylglutaryl CoA Reductase,HMG CoA Reductase,Hydroxymethylglutaryl CoA Reductase,3 Hydroxy 3 methylglutaryl CoA Reductase,CoA Reductase, 3-Hydroxy-3-methylglutaryl,Reductase, 3-Hydroxy-3-methylglutaryl CoA

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