scholarly journals Association of extended myositis panel results, clinical features, and diagnoses: a single-center retrospective observational study

2021 ◽  
Author(s):  
Shamma Ahmad Al Nokhatha ◽  
Eman Alfares ◽  
Luke Corcoran ◽  
Niall Conlon ◽  
Richard Conway
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Clinical Features ◽  
Clinical Utility ◽  
Clinical Symptoms ◽  
Final Diagnosis ◽  
Inflammatory Myopathies ◽  
Inclusion Criteria ◽  
Positive Group ◽  
Positive Results

AbstractMyositis-specific antibodies (MSA) and myositis-associated antibodies (MAA) are a feature of the idiopathic inflammatory myopathies (IIM), but are also seen in other rheumatic diseases, and in individuals with no clinical symptoms. The aim of this study was to assess the clinical utility of MSA and MAA and in particular the clinical relevance of weakly positive results. We included all patients at our institution who had at least one positive result on the Immunoblot EUROLINE myositis panel over a 6-year period (2015–2020). Associations with clinical features and final diagnosis were evaluated. Eighty-seven of 225 (39%) myositis panel tests met the inclusion criteria. There were 52 strong positives and 35 weak positives for one or more MSA/MAAs. Among the strong positive group, 15% (8/52) were diagnosed with IIM, 34.6% (18/52) with interstitial lung disease, 7.7% (4/52) with anti-synthetase syndrome, 25% (13/52) with connective tissue disease, and others accounted for 25% (13/52). In weak-positive cases, only 14% (5/35) had connective tissue disease and none had IIM. 60% (21/35) of weak-positive cases were not associated with a specific rheumatic disease. A significant number of positive myositis panel results, particularly weak positives, are not associated with IIM or CTD.

Overlap/undifferentiated syndromes

2013 ◽  
pp. 1069-1078 ◽  
Author(s):  
Ariane Herrick
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Clinical Features ◽  
Lupus Erythematosus ◽  
Raynaud’S Phenomenon ◽  
Clinical Manifestations ◽  
Raynaud's Phenomenon ◽  
Overlap Syndromes ◽  
Clear Cut ◽  
Positive Treatment

Undifferentiated connective tissue disease (UCTD) and overlap syndromes both form part of the broad spectrum of connective tissue disease. They are difficult to define, as the boundaries between them and specific diseases such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and myositis are often not clear-cut. This chapter gives a broad overview of diagnosis, clinical features, outcomes, and management. Patients with UCTD have clinical and/or serological features of connective tissue disease but do not fulfil the criteria for any one defined disease. Raynaud’s phenomenon and puffy fingers are often the presenting features but there are many possible others, including arthralgia, sicca symptoms, and breathlessness due to pulmonary fibrosis, usually in the context of a positive anti-nuclear antibody (ANA). A proportion of patients evolve into a defined connective tissue disease: in those who do, this is generally within 5 years of onset. Treatment is dependent upon the clinical features: for examplem vasodilators for Raynaud’s phenomenon, or hydroxychloroquine for arthralgia/arthritis. Patients with overlap syndromes have features of more than one defined connective tissue disease. Overlap syndromes are therefore highly heterogeneous as many combinations of clinical and serological features can occur. Mixed connective tissue disease (MCTD) is the overlap syndrome that has been most described and includes overlapping features of SLE, SSc, and myositis in patients who are anti-U1 ribonucleoprotein (RNP) antibody positive. Treatment is of the specific clinical manifestations. Patients with overlap syndromes should be kept under regular review to allow early identification of internal organ involvement.

scholarly journals Interleukin 2(IL-2) production in patients with mixed connective tissue disease(MCTD) and its relevance to the diagnosis and clinical features.

1988 ◽  
Vol 77 (5) ◽  
pp. 649-655
Author(s):  
Hisanori UMEHARA ◽  
Shunichi KUMAGAI ◽  
Hiroshi ISHIDA ◽  
Takashi FUJITA ◽  
Hiroo IMURA ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Clinical Features ◽  
Mixed Connective Tissue Disease ◽  
Interleukin 2

Overlap/undifferentiated syndromes

2013 ◽  
pp. 1069-1078
Author(s):  
Ariane Herrick ◽  
Michael Hughes
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Clinical Features ◽  
Lupus Erythematosus ◽  
Raynaud’S Phenomenon ◽  
Clinical Manifestations ◽  
Raynaud's Phenomenon ◽  
Overlap Syndromes ◽  
Clear Cut ◽  
Positive Treatment

Undifferentiated connective tissue disease (UCTD) and overlap syndromes both form part of the broad spectrum of connective tissue disease. They are difficult to define, as the boundaries between them and specific diseases such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and myositis are often not clear-cut. This chapter gives a broad overview of diagnosis, clinical features, outcomes, and management. Patients with UCTD have clinical and/or serological features of connective tissue disease but do not fulfil the criteria for any one defined disease. Raynaud’s phenomenon and puffy fingers are often the presenting features but there are many possible others, including arthralgia, sicca symptoms, and breathlessness due to pulmonary fibrosis, usually in the context of a positive anti-nuclear antibody (ANA). A proportion of patients evolve into a defined connective tissue disease: in those who do, this is generally within 5 years of onset. Treatment is dependent upon the clinical features: for example vasodilators for Raynaud’s phenomenon, or hydroxychloroquine for arthralgia/arthritis. Patients with overlap syndromes have features of more than one defined connective tissue disease. Overlap syndromes are therefore highly heterogeneous as many combinations of clinical and serological features can occur. Mixed connective tissue disease (MCTD) is the overlap syndrome that has been most described and includes overlapping features of SLE, SSc, and myositis in patients who are anti-U1 ribonucleoprotein (RNP) antibody positive. Treatment is of the specific clinical manifestations. Patients with overlap syndromes should be kept under regular review to allow early identification of internal organ involvement.

scholarly journals Genetic Myopathies Initially Diagnosed and Treated as Inflammatory Myopathy

2016 ◽  
Vol 43 (3) ◽  
pp. 381-384 ◽  
Author(s):  
Mark A. Tarnopolsky ◽  
Erin Hatcher ◽  
Rachel Shupak
Keyword(s):  
Clinical Features ◽  
Age At Onset ◽  
Inflammatory Myopathy ◽  
Final Diagnosis ◽  
Creatine Kinase Activity ◽  
Inflammatory Myopathies ◽  
Muscle Involvement ◽  
Course Of Disease ◽  
Disease Modifying Agents ◽  
Muscle Biopsies

AbstractObjectives: Differentiating genetic myopathies from inflammatory myopathies can be challenging because of multiple overlapping clinical features. Examples are presented to highlight important clinical features that assist in the differentiation between the two. Methods: Clinical features including age at onset, history, pattern of weakness, serum creatine kinase activity, electromyography findings, and muscle biopsies are reported in six patients initially thought to have an inflammatory myopathy in whom the final diagnosis was a genetic myopathy. Results: All six patients met Bohan and Peter criteria for at least probable idiopathic polymyositis and were subsequently found to have a genetic myopathy (4 DYSF, RYR1, and GNE). The key distinguishing clinical were minimal to no response to immunosuppression and atypical involvement of distal muscles in the majority of cases. Conclusions: Patients diagnosed with inflammatory myopathies should be reevaluated for the possibility of a genetic myopathy if they fail to respond to a course of disease-modifying agents and/or there is atypical distal muscle involvement.

scholarly journals Isolated Ro52 Antibodies as Immunological Marker of a Mild Phenotype of Undifferentiated Connective Tissue Diseases

2017 ◽  
Vol 2017 ◽  
pp. 1-6 ◽  
Author(s):  
Ana Alonso-Larruga ◽  
Sagrario Bustabad ◽  
José Antonio Navarro-Gonzálvez ◽  
Beatriz Rodríguez-Lozano ◽  
Andrés Franco ◽  
...  
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Clinical Symptoms ◽  
Age Of Onset ◽  
Connective Tissue Diseases ◽  
Target Population ◽  
Frequent Pattern ◽  
Serological Markers ◽  
Mild Phenotype ◽  
Clinical Records

The term undifferentiated connective tissue disease (UCTD) is used to describe undiagnosed patients that do not fulfill classification criteria for definite connective tissue disease (Systemic Lupus, Systemic Sclerosis, Sjögren Syndrome, and Dermatomyositis/Polymyositis). It is important to find serological markers as predictors of the evolution or severity of these diseases. The objective of this retrospective study was to investigate if there was a milder subgroup of UCTD with a special clinical profile consisting only in the presence of anti-Ro52 autoantibodies. Immunological and clinical records of 62 patients attending the hospital during 30 months were studied. Results showed a target population formed by mostly women, aged between 40 and 80 years at the moment of the study, with a registered age of onset between 40 and 60 years. Speckled pattern was the most frequent pattern found by indirect immunofluorescence. Given the obtained results and keeping in mind possible limitations because of sample size, isolated positive anti-Ro52 autoantibodies seem to lead to a benign effect in terms of evolution of the disease. As a future objective, the follow-up of these patients should be necessary to investigate new clinical symptoms, serological markers, or development of a definite connective tissue disease over time.

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