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Uncovering the Unusual: A Case of Mixed Connective Tissue Disease With Rare Presentation, Atypical Complications, and Therapeutic Dilemmas
Mixed connective tissue disease (MCTD) is an overlap syndrome characterized by features of systemic lupus erythematosus, scleroderma, and polymyositis, along with the presence of the U1RNP antibody. A 46-year-old female patient presented with severe anemia, cough, and breathlessness, and was diagnos...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10106112/ https://www.ncbi.nlm.nih.gov/pubmed/37073214 http://dx.doi.org/10.7759/cureus.36298 |
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author | Khot, Rajashree S Patil, Adarsh Rathod, Bharatsing D Patidar, Madan Joshi, Prashant P |
author_facet | Khot, Rajashree S Patil, Adarsh Rathod, Bharatsing D Patidar, Madan Joshi, Prashant P |
author_sort | Khot, Rajashree S |
collection | PubMed |
description | Mixed connective tissue disease (MCTD) is an overlap syndrome characterized by features of systemic lupus erythematosus, scleroderma, and polymyositis, along with the presence of the U1RNP antibody. A 46-year-old female patient presented with severe anemia, cough, and breathlessness, and was diagnosed with cold agglutinin disease, a type of autoimmune hemolytic anemia (AIHA). Autoimmune workup revealed MCTD by positive antinuclear and U1RNP antibodies. She had bilateral miliary mottling on X-ray and a tree-in-bud appearance on high-resolution computed tomography of the thorax, which were suggestive of pulmonary tuberculosis. Standard therapy with steroids was not advisable. She was subsequently started on anti-tuberculosis treatment (anti-Koch's therapy), followed by steroid therapy and immunosuppressive therapy after three weeks. The patient responded well to treatment, but after two months, she developed cytomegalovirus (CMV) retinitis. Adult-onset CMV disease may occur as a result of primary infection, reinfection, or activation of a latent infection. Although not directly related, it can occur as an atypical association in the setting of immunosuppressive therapy. Morbidity and mortality are significantly increased in this population secondary to infectious potentiation: immunosuppression causes infections, and infections cause AIHA. The management of MCTD and secondary AIHA and immunosuppression poses a therapeutic challenge. |
format | Online Article Text |
id | pubmed-10106112 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-101061122023-04-17 Uncovering the Unusual: A Case of Mixed Connective Tissue Disease With Rare Presentation, Atypical Complications, and Therapeutic Dilemmas Khot, Rajashree S Patil, Adarsh Rathod, Bharatsing D Patidar, Madan Joshi, Prashant P Cureus Internal Medicine Mixed connective tissue disease (MCTD) is an overlap syndrome characterized by features of systemic lupus erythematosus, scleroderma, and polymyositis, along with the presence of the U1RNP antibody. A 46-year-old female patient presented with severe anemia, cough, and breathlessness, and was diagnosed with cold agglutinin disease, a type of autoimmune hemolytic anemia (AIHA). Autoimmune workup revealed MCTD by positive antinuclear and U1RNP antibodies. She had bilateral miliary mottling on X-ray and a tree-in-bud appearance on high-resolution computed tomography of the thorax, which were suggestive of pulmonary tuberculosis. Standard therapy with steroids was not advisable. She was subsequently started on anti-tuberculosis treatment (anti-Koch's therapy), followed by steroid therapy and immunosuppressive therapy after three weeks. The patient responded well to treatment, but after two months, she developed cytomegalovirus (CMV) retinitis. Adult-onset CMV disease may occur as a result of primary infection, reinfection, or activation of a latent infection. Although not directly related, it can occur as an atypical association in the setting of immunosuppressive therapy. Morbidity and mortality are significantly increased in this population secondary to infectious potentiation: immunosuppression causes infections, and infections cause AIHA. The management of MCTD and secondary AIHA and immunosuppression poses a therapeutic challenge. Cureus 2023-03-17 /pmc/articles/PMC10106112/ /pubmed/37073214 http://dx.doi.org/10.7759/cureus.36298 Text en Copyright © 2023, Khot et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Internal Medicine Khot, Rajashree S Patil, Adarsh Rathod, Bharatsing D Patidar, Madan Joshi, Prashant P Uncovering the Unusual: A Case of Mixed Connective Tissue Disease With Rare Presentation, Atypical Complications, and Therapeutic Dilemmas |
title | Uncovering the Unusual: A Case of Mixed Connective Tissue Disease With Rare Presentation, Atypical Complications, and Therapeutic Dilemmas |
title_full | Uncovering the Unusual: A Case of Mixed Connective Tissue Disease With Rare Presentation, Atypical Complications, and Therapeutic Dilemmas |
title_fullStr | Uncovering the Unusual: A Case of Mixed Connective Tissue Disease With Rare Presentation, Atypical Complications, and Therapeutic Dilemmas |
title_full_unstemmed | Uncovering the Unusual: A Case of Mixed Connective Tissue Disease With Rare Presentation, Atypical Complications, and Therapeutic Dilemmas |
title_short | Uncovering the Unusual: A Case of Mixed Connective Tissue Disease With Rare Presentation, Atypical Complications, and Therapeutic Dilemmas |
title_sort | uncovering the unusual: a case of mixed connective tissue disease with rare presentation, atypical complications, and therapeutic dilemmas |
topic | Internal Medicine |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10106112/ https://www.ncbi.nlm.nih.gov/pubmed/37073214 http://dx.doi.org/10.7759/cureus.36298 |
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