Epidemiological and genetic features of anti-3‑hydroxy-3-methylglutaryl-CoA reductase necrotizing myopathy: Single-center experience and literature review

Autor: Diana Prieto-Peña, Javier G. Ocejo-Vinyals, Joel Mazariegos-Cano, Ana L. Pelayo-Negro, Sara Remuzgo-Martínez, Fernanda Genre, Alicia García-Dorta, Mónica Renuncio-García, Víctor M. Martínez-Taboada, Carmen García-Ibarbia, Julio Sánchez-Martín, Marcos López-Hoyos, Ricardo Blanco, Miguel A. González-Gay, José L. Hernández
Rok vydání: 2022
Předmět:
Zdroj: European Journal of Internal Medicine. 101:86-92
ISSN: 0953-6205
DOI: 10.1016/j.ejim.2022.04.017
Popis: To characterize the demographic, genetic, clinical, and serological features of patients with anti-3‑hydroxy-3-methylglutaryl-CoA reductase (HMGCR) immune-mediated necrotizing myopathy (IMNM) in a region of northern Spain.Study of all patients diagnosed with anti-HMGCR IMNM during a 5-year period at a reference hospital in northern Spain. Besides clinical and laboratory data, we analyzed the genetic influence of HLA genes and the rs4149056 (c.521TC) single nucleotide polymorphism (SNP) in the SLCO1B1 gene.8 patients (5 women, 3 men) with a mean ± SD age of 64.9 ± 7.3 years, fulfilled the criteria for anti-HMGCR IMNM. The incidence rate was 0.6 per 100.000 person-years and the prevalence 3 per 100.000 population. All patients had been exposed to statins. All of them had predominant lower limb proximal and symmetric muscle weakness that was severe in 2 and had elevated serum CK levels with a median [IQR] of 4488 [2538-9194] IU/L. Serum 25‑hydroxy vitamin D levels were decreased in all patients in whom it was determined. The 3 patients with a previous diagnosis of hypothyroidism had abnormal levels of TSH at the time of diagnosis. All patients experienced improvement with different schemes of immunosuppressive therapy. Noteworthy, 7 of 8 patients carried the HLA-DRB1*11 allele. The frequency of the rs4149056 C allele in the SLCO1B1 gene (12.5%) was similar to that of the general population.In northern Spain, anti-HMGCR IMNM preferentially affects people over 50 years of age who are carriers of the HLA-DRB1*11 allele and take statins. Both low vitamin D levels and hypothyroidism may play a potential predisposing role in the development of this disease.
Databáze: OpenAIRE
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