Rheumatology
Stephan Strobel, Lewis Spitz, Stephen D. Marks in Great Ormond Street Handbook of Paediatrics, 2019
Autoimmune or autoinflammatory diseases: JIA-particularly the systemic form.JDM.SLE.undifferentiated connective tissue disease.sarcoidosis.Behçet disease.
Pregnancy in SLE
E. Nigel Harris, Thomas Exner, Graham R. V. Hughes, Ronald A. Asherson in Phospholipid-Binding Antibodies, 2020
There are several forms of SLE-like illness.2,9,15Subclinical or atypical SLE is diagnosed when symptoms compatible with SLE, not fulfilling ARA criteria and unaccompanied by diagnostic serological tests, are present. Undifferentiated connective tissue disease is diagnosed when symptoms are present but the serological criteria for SLE (strongly positive anti-nuclear antibody, and anti-DNA or anti-Sm antibody) are absent. The diagnosis of mixed connective tissue disease is used when overlapping symptoms of SLE and scleroderma or dermatomyositis are present together with high titer antibody to U1RNP and absence of anti-DNA or anti-Sm. While these diagnoses imply different long-range prognoses for the patient, in pregnancy they are equivalent to SLE.
Sjögren syndrome and mixed connective tissue disease
Biju Vasudevan, Rajesh Verma in Dermatological Emergencies, 2019
Mixed connective tissue disease (MCTD) was first described by Sharp et al. as a clinically and serologically distinct entity in 1972 [29]. Patients exhibit clinical features overlapping with those of systemic lupus erythematous, systemic sclerosis, and polymyositis, and have high titers of anti-U1RNP (ribonucleoprotein) antibody. However, there is controversy whether MCTD exists as a distinct clinical entity or is merely an overlap of clinical features of different connective tissue diseases. As a subset of patients with MCTD develops features consistent with classic systemic lupus or scleroderma over time, some researchers believe that it represents an early nonspecific phase of an evolving connective tissue disease (often referred to as undifferentiated connective tissue disease) [30–32]. MCTD is the least common of all the connective tissue disorders. A population-based study in Norway estimated its point-prevalence as 3.8 per 100,000 adults and the annual incidence rate as 2.1 per million. Females are affected more frequently than males (female-to-male ratios range from 3.3:1 to 16:1) [33–35]. Most patients are affected in their second or third decades of life. MCTD can have a juvenile onset in 7%–23% patients [36].
Relapsing polychondritis: state-of-the-art review with three case presentations
Published in Postgraduate Medicine, 2021
Bogna Grygiel-Górniak, Hamza Tariq, Jacob Mitchell, Azad Mohammed, Włodzimierz Samborski
Case 1: A 46-year-old woman was suspected of undifferentiated connective tissue disease and the ears’ cartilage inflammation. Her first symptoms were in 2017 of both ears’ cartilage inflammation, which recurred in 2018 (Figure 1). Finally, in February 2019, she was admitted to the Rheumatology Department and diagnosed with RPC. In October 2019, she was diagnosed with undifferentiated connective tissue disease (UCTD) and treated with hydroxychloroquine. Additionally, Raynaud’s phenomenon was diagnosed and episodes of joint pain in both hands. Physical examination showed deformation of the auricles and arthritis of small joints of hands with thickening of the skin on the hands and slow wound healing after minor injuries. Serological tests showed elevated autoantibodies: PM 100, Th/To, and the slightly increased RNP/Sm, Sm, PCNA. An MRI of the cervical spine revealed degenerative disc disease. Capillaroscopy showed reduced capillary density and an increased number of twisting capillaries. Finally, the recurrent polychondritis with UCTD was confirmed. Since the clinical state was stable and no RPC progression was present, hydroxychloroquine (200 mg QD) treatment with occasionally taken diclofenac (50 mg QD) was maintained.
Assessing the EULAR/ACR classification criteria for patients with systemic lupus erythematosus
Published in Expert Review of Clinical Immunology, 2022
Martin Aringer, Karen Costenbader, Sindhu R Johnson
On the other hand, it is no longer required to have at least four items. For example, SLE joint involvement (weight 6) plus antibodies to dsDNA in a specific test (weight 6) will be sufficient for SLE classification (≥10). If it is a rather specific form of organ involvements, such as lupus nephritis, joint involvement, serositis, seizures, SLE-specific skin manifestations (acute or subacute or discoid lupus erythematosus), thrombocytopenia, or autoimmune hemolytic anemia, the combination with an SLE-specific antibody (to Sm or dsDNA) or with low C3 and low C4 will always be sufficient for classification in an ANA-positive patient. Indeed, in two cohorts of patients previously classified as undifferentiated connective tissue disease (UCTD) patients, more SLE patients were identified by the EULAR/ACR criteria [25,51].
Anti-DFS70 antibodies: an update on our current understanding and their clinical usefulness
Published in Expert Review of Clinical Immunology, 2019
Michael Mahler, Luis E. Andrade, Carlos A. Casiano, Kishore Malyavantham, Marvin J. Fritzler
In the following section, we focus on undifferentiated connective tissue disease (UCTD) since a positive HEp-2 IIF test often plays a critical role in the clinical classification, assessment, and outcomes. UCTD is a diagnostic term used to categorize a heterogeneous group of patients that do not fulfill diagnostic or classification criteria for systemic autoimmune rheumatic diseases (SARD) such as SLE, SSc, SjS, IIM, MCTD, and others [15,50,51]. Key clinical features of UCTD include Raynaud’s phenomenon, unexplained polyarthritis, mucocutaneous disease, and myalgia [52–54]. To achieve a standardized clinical definition of UCTD and facilitate meaningful research studies, Mosca [50] and others have proposed three broad classification criteria: (i) signs and symptoms suggestive of a SARD, but not fulfilling criteria for defined SARDs, (ii) a positive HEp-2 IIF test, and (iii) disease duration of at least three years.
Related Knowledge Centers
- Overlap Syndrome
- Scleroderma
- Systemic Scleroderma
- Autoimmune Disease
- Lupus
- Mixed Connective Tissue Disease
- Sjögren Syndrome
- Polymyositis
- Dermatomyositis
- Rheumatoid Arthritis