Disease evolution in mixed connective tissue disease: results from a long-term nationwide prospective cohort study

Abstract

BackgroundThe phenotypic stability of mixed connective tissue disease (MCTD) is not clear, and knowledge about disease activity and remission is scarce. We aimed to establish the occurrence of evolution from MCTD to another defined rheumatic condition, and the prevalence and durability of remission after long-term observation.MethodsIn this large population-based prospective observational MCTD cohort study (N = 118), disease conversion was defined by the development of new auto-antibodies and clinical features compliant with another well-defined rheumatic condition. Remission was defined by a combination of systemic lupus erythematosus disease activity index 2000 (SLEDAI-2 K) of 0 and European League Against Rheumatism scleroderma trials and research (EUSTAR) activity index <2.5. Predictors of phenotypic stability and disease remission were assessed by logistic regression.ResultsAmong 118 patients, 14 (12%) developed another well-defined rheumatic condition other than MCTD after mean disease duration of 17 (SD 9) years. Puffy hands predicted a stable MCTD phenotype in univariable regression analysis (OR 7, CI 2–27, P = .010). Disease activity defined by SLEDAI-2 K, decreased gradually across the observation period and > 90% of patients had EUSTAR activity index <2.5. There were 13% patients in remission throughout the whole mean observation period of 7 (SD 2) years. The strongest predictor of remission was percentage of predicted higher forced vital capacity.ConclusionsOur results strengthen the view of MCTD as a relatively stable disease entity. Long-term remission in MCTD is not frequent; however, the low SLEDAI-2 K and EUSTAR scores during the observation period suggests that the disease runs a milder course than systemic lupus erythematosus and systemic sclerosis.Electronic supplementary materialThe online version of this article (doi:10.1186/s13075-017-1494-7) contains supplementary material, which is available to authorized users.

“Mixed connective tissue disease”: a condition in search of an identity

“…In the Reiseter et al [26] cohort study, 147 patients were identified from the Norwegian nationwide "MCTD" database, and 118 were studied (13 patients were lost and 16 deceased before revaluation). Inclusion criteria were age above 18 years, fulfilment of at least one of the three sets of criteria for "MCTD" (modified Sharp's criteria, Alarcón-Segovia, Kasukawa) and exclusion of another ARD.…”

Cytokine secretion and the risk of depression development in patients with connective tissue diseases

“…Mixed connective tissue disease (MCTD) is characterized by the overlapping features of systemic autoimmune diseases, including of SLE, SSc, polymyositis/dermatomyositis, and RA, in the presence of the U1 small nuclear ribonucleoprotein antibody (anti‐U1‐RNP) positivity . Clinical features of MCTD include Raynaud's phenomenon, arthralgias, esophageal dysfunction, muscle weakness, and sausage‐like appearance of the fingers . Involvement of the nervous system is less frequent than manifestations of other organ systems, with the most common presentation involving the peripheral nervous system (e.g., trigeminal neuropathy) …”

Mixed connective tissue disease

“…[28][29][30][31], однако до сих пор ни одни из них не являются общепринятыми. Только два из четырех вариантов имеющихся критериев регулярно использовались в научных целях для оценки взрослой популяции, -критерии D. Alarcon-Segovia и R. Kasukawa [32][33][34][35]. Критерии G.C.…”

“…Вовлечение суставов является ранним и частым симптомом СМЗСТ, наличие артритов включено во все критерии СМЗСТ. Полиартралгии и/или артриты наблюдаются приблизительно у 60-70% пациентов [33]. Поражение суставов варьируется от минимальных артралгий, артритов малых и крупных суставов, эрозий, типичных для РА, до мутилирующего артрита.…”

“…Антималярийные препараты (гидроксихлорохин), метотрексат и сосудорасширяющие средства применяются с разной степенью успеха[12,27,33, 39]. Имеются единичные работы, в которых пациентам со СМЗСТ назначали генноинженерные биологические препараты (ГИБП), в частности ингибиторы фактора некроза опухоли α[50, 51], ритуксимаб[52][53][54], тоцилизумаб [56], с умеренным положительным эффектом (купирование или уменьшение выраженности клинических проявлений или отсутствие отрицательной динамики за время исследования).…”