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 Detalle_Publicacion

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

Abstract: Objective: 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. Methods: 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.521T>C) single nucleotide polymorphism (SNP) in the SLCO1B1 gene. Results: 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. Conclusion: 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.

 Autoría: Prieto-Peña D., Ocejo-Vinyals J.G., Mazariegos-Cano J., Pelayo-Negro A.L., Remuzgo-Martínez S., Genre F., García-Dorta A., Renuncio-García M., Martínez-Taboada V.M., García-Ibarbia C., Sánchez-Martín J., López-Hoyos M., Blanco R., González-Gay M.A., Hernández J.L.,

 Fuente: European Journal of Internal Medicine,2022, 101, 86-92

Editorial: Elsevier

 Año de publicación: 2022

Nº de páginas: 7

Tipo de publicación: Artículo de Revista

 DOI: 10.1016/j.ejim.2022.04.017

ISSN: 0953-6205,1879-0828

Url de la publicación: https://doi.org/10.1016/j.ejim.2022.04.017

Autores/as

DIANA PRIETO PEÑA

OCEJO-VINYALS, JAVIER G.

MAZARIEGOS-CANO, JOEL

PELAYO NEGRO, ANA L.

REMUZGO-MARTÍNEZ, SARA

GENRE, FERNANDA

GARCÍA-DORTA, ALICIA

RENUNCIO GARCÍA, MÓNICA

SÁNCHEZ MARTÍN, JULIO