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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...

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Autores principales: Khot, Rajashree S, Patil, Adarsh, Rathod, Bharatsing D, Patidar, Madan, Joshi, Prashant P
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2023
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.
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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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