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.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8454444 | PMC |
| http://dx.doi.org/10.1136/bcr-2021-243728 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Predictive value of myositis antibodies: role of semiquantitative classification and positivity for more than one autoantibody.
RMD Open
January 2025
TYKS laboratories, Clinical Microbiology, Turku University Hospital, Turku, Finland.
Objectives: We assessed the positive predictive value (PPV) of 17 myositis antibodies for having a diagnosis of myositis and other myositis-spectrum conditions (interstitial lung disease (ILD), connective tissue diseases (CTD), malignancy) and evaluated the impact of semiquantitative classification and antibody overlap on the PPVs.
Materials And Methods: We retrospectively identified 1068 individuals ≥18 years who tested positive for ≥1 antibody in the EUROLINE myositis line blot assay or positive for anti-3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) in an ELISA-based test between 2015 and 2020 in 15 out of the 20 hospital districts in Finland. We extracted clinical diagnoses from the Care Register for Health Care between January 2013 and June 2022.
Applicability of a serodiagnostic line blot for idiopathic inflammatory myopathy: the muscle biopsy is not all.
Front Neurol
January 2025
Neurosciences and Clinical Department, Centro Universitário ABC, Santo André, Brazil.
Introduction: Differential diagnosis of rare idiopathic inflammatory myopathies (IIM) is mainly based on clinical aspects, muscle biopsy analysis, and auxiliary assays that determine myositis-specific and associated autoantibodies (MSA and MAA). While MSAs are considered specific for their respective IIM subclass, MAAs can be present in more than one subclass and in other conditions. This study compares results of a multispecific line blot assay with the final diagnosis of IIM patients based on clinical features and muscle biopsy to draw conclusions for the test's applicability in the diagnostic workflow.
View Article and Find Full Text PDFTherapeutic plasmapheresis as an effective treatment for refractory anti-3-hydroxy-3-methylglutaryl coenzyme A reductase-positive immune-mediated necrotising myopathy.
BMJ Case Rep
January 2025
Faculty of Health and Medical Sciences, The University of Adelaide, Adelaide, South Australia, Australia.
Immune-mediated necrotising myopathy (IMNM) can be associated with autoantibodies to 3-hydroxy-3-methylglutaryl coenzyme A reductase (anti-HMGCR). We present a case of a man in his 60s with a 13-year history of relapsing anti-HMGCR-positive IMNM, intermittently partially responsive to various treatments including corticosteroids, methotrexate, mycophenolate, intravenous immunoglobulin, abatacept and rituximab. After a repeat presentation with severe weakness, plasmapheresis was commenced, resulting in rapid and significant improvement in muscle strength and biochemical markers, which was sustained for several months.
View Article and Find Full Text PDFEffects of HMG CoA reductase (HMGCR) deficiency on skeletal muscle development.
FEBS J
January 2025
Greg Marzolf Jr. Muscular Dystrophy Center and Department of Neurology, University of Minnesota Medical School, Minneapolis, MN, USA.
Pathogenic variants in HMGCR were recently linked to a limb-girdle muscular dystrophy (LGMD) phenotype. The protein product HMG CoA reductase (HMGCR) catalyzes a key component of the cholesterol synthesis pathway. The two other muscle diseases associated with HMGCR, statin-associated myopathy (SAM) and autoimmune anti-HMGCR myopathy, are not inherited in a Mendelian pattern.
View Article and Find Full Text PDFJessner Lymphocytic Infiltrate in Anti-HMGCR Myopathy.
JAMA Dermatol
December 2024
Department of Dermatology, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!