K.R. SHAPOREVA¹, S.A. LAPSHINA¹, E.V. SUKHORUKOVA², A.R. GARAEVA¹, R.Z.  ABDRAKIPOV², D.I. ABDULGANIEVA^1, 2

 ¹Kazan State Medical University, Kazan

²Republic Clinical Hospital, Kazan

 Contact details:

Shaporeva K.R. — resident doctor of the Department of Hospital Therapy

Address: 49 Butlerov St., Kazan, Russian Federation, 420012, tel.: +7-919-643-51-93, e-mail: karina_shaporeva@mail.ru

This article presents a clinical case of a patient with a mixed connective tissue disease. The clinical picture in the debut was polymorphic, the patient had arthritis, skin lesions, general inflammation, myopathy, Raynaud’s syndrome, dysphagia, angio-neurotic edema. The immunological panel reflected the presence of antibodies characteristic of autoimmune diseases (antinuclear antibodies, antibodies to ribonucleoprotein, antimitochondrial antibodies, antibodies to cytoplasmic antigen SS-B). Glucocorticosteroids (GCS), immunosuppressive drugs (metatrexate, sulfasalazine, hydroxychloroquine, azathioprine) were used as starting therapy, but the disease progressed. Pulse therapy of GCS and plasmapheresis did not give a positive result. We used Rituximab, because the pathogenesis of the disease was characterized by the activation of B-cells. Currently, two infusions have been performed, positive dynamics has been noted. Thus, the therapy of mixed connective tissue disease creates many diagnostic and therapeutic problems in clinical practice.

Key words: mixed connective tissue disease, antibodies to ribonucleoprotein, antinuclear antibodies, antimitochondrial antibodies, rituximab, systemic lupus erythematosus.

REFERENCES

1. Sharp G.C., Irvin W.S., Tan E.M. et al. Mixed connective tissue disease: an apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen. Am J Med, 1972, vol. 52 (2), pp. 148–159.
2. Ungprasert P., Crowson C.S., Chowdhary V.R. et al. Epidemiology of mixed connective tissue disease, 1985–2014: A population-based study. Arthritis Care Res (Hoboken), 2016, vol. 68 (12), pp. 1843–1848.
3. Nakae K., Furusawa F., Kasukawa R. et al. A nationwide epidemiological survey on diffuse collagen disease: Estimation of prevalence rate in Japan. Kasukawa R., Sharp G.C., editors. Mixed connective tissue disease and antinuclear antibodies. Amsterdam: Elsevier, 1987. Pp. 9–20.
4. Gunnarsson R., Hetlevik S.O., Lilleby V. et al. Mixed connective tissue disease. Best Pract Res Clin Rheumatol, 2016, vol. 30 (1), pp. 95–111.
5. Tarvin S.E., O’Neil K.M. Systemic Lupus Erythematosus, Sjogren Syndrome, and Mixed Connective Tissue Disease in Children and Adolescents. Pediatr Clin North Am, 2018, vol. 65 (4), pp. 711–737.
6. Shuba N.M. Mixed connective tissue disease (Sharpe’s syndrome). Ukrainskiy revmatologicheskiy zhurnal, 2000, no. 1, pp. 29–32 (in Russ.).
7. Alarcon-Segovia D., Cardiel M.N. Comparison between 3 diagnostic criteria for mixed connective tissue disease study of 553 patients. J. Rheumatology, 1989, vol. 16 (3), pp. 328–334.
8. Pepmueller P.H. Undifferentiated Connective Tissue Disease, Mixed Connective Tissue Disease, and Overlap Syndromes in Rheumatology. Mo Med, 2016, vol. 113 (2), pp. 136–140.
9. Nasonov E.L., Nasonova V.A. Revmatologiya: natsional’noe rukovodstvo [Rheumatology: a national guide]. Moscow: GEOTAR-Media, 2010. 720 p.
10. Venables P. Overlap syndromes and mixed connective tissue disease. Copeman’s textbook of rheumatic diseases J. Scott. Edinburgh, 1994. Vol. 2. Pp. 1269–1277.
11. Flam S.T., Gunnarsson R., Garen T. et al. The HLA profiles of mixed connective tissue disease differ distinctly from the profiles of clinically related connective tissue diseases. Rheumatology (Oxford), 2015, vol. 54 (3), pp. 528–535.