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Rare presentation of multiple thromboses in Erdheim–Chester disease: a case-based review
BACKGROUND: ECD is a rare non-Langerhans cell histiocytosis with diverse and heterogeneous clinical manifestations, ranging from single-lesion forms to multi-system involvement, including slowly progressing unifocal forms to rapidly evolving life-threatening disease. CASE PRESENTATION: A female pati...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Nature Singapore
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9588466/ https://www.ncbi.nlm.nih.gov/pubmed/35687294 http://dx.doi.org/10.1007/s12185-022-03393-x |
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author | Liu, Yongchang Huang, Changpin Meng, Xiaohu Fang, Xin Xie, Xupin Wang, Changrong Wang, Meiyun |
author_facet | Liu, Yongchang Huang, Changpin Meng, Xiaohu Fang, Xin Xie, Xupin Wang, Changrong Wang, Meiyun |
author_sort | Liu, Yongchang |
collection | PubMed |
description | BACKGROUND: ECD is a rare non-Langerhans cell histiocytosis with diverse and heterogeneous clinical manifestations, ranging from single-lesion forms to multi-system involvement, including slowly progressing unifocal forms to rapidly evolving life-threatening disease. CASE PRESENTATION: A female patient presented with a 2-month history of fever. Imaging revealed multiple thromboses, bone destruction, an abnormal pituitary stalk, and clinical manifestations of diabetes insipidus. Excisional biopsy of a tibial lesion was sent for microscopic examination, and subsequent immunohistochemical testing was positive for expression of CD68 and CD163, and negative for expression of the immune markers CD1a, S100, and langerin. This confirmed the diagnosis of ECD. Treatment with methylprednisolone to inhibit the immune inflammatory response along with anti-cytokine therapy with an interleukin-6 antagonist resulted in satisfactory disease control. CONCLUSION: We report a rare case of multiple thromboses, embolism, and multiple organ involvement as the main presentation of ECD, suggesting that ECD should be considered in patients presenting with multiple thromboses associated with multisystem damage. We successfully treated our patient with glucocorticoids and interleukin-6 antagonist. This patient’s response to treatment suggests that hormone therapy and cytokine/chemokine therapy may be a potential novel treatment for patients with ECD without gene mutations. |
format | Online Article Text |
id | pubmed-9588466 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Springer Nature Singapore |
record_format | MEDLINE/PubMed |
spelling | pubmed-95884662022-10-25 Rare presentation of multiple thromboses in Erdheim–Chester disease: a case-based review Liu, Yongchang Huang, Changpin Meng, Xiaohu Fang, Xin Xie, Xupin Wang, Changrong Wang, Meiyun Int J Hematol Case Report BACKGROUND: ECD is a rare non-Langerhans cell histiocytosis with diverse and heterogeneous clinical manifestations, ranging from single-lesion forms to multi-system involvement, including slowly progressing unifocal forms to rapidly evolving life-threatening disease. CASE PRESENTATION: A female patient presented with a 2-month history of fever. Imaging revealed multiple thromboses, bone destruction, an abnormal pituitary stalk, and clinical manifestations of diabetes insipidus. Excisional biopsy of a tibial lesion was sent for microscopic examination, and subsequent immunohistochemical testing was positive for expression of CD68 and CD163, and negative for expression of the immune markers CD1a, S100, and langerin. This confirmed the diagnosis of ECD. Treatment with methylprednisolone to inhibit the immune inflammatory response along with anti-cytokine therapy with an interleukin-6 antagonist resulted in satisfactory disease control. CONCLUSION: We report a rare case of multiple thromboses, embolism, and multiple organ involvement as the main presentation of ECD, suggesting that ECD should be considered in patients presenting with multiple thromboses associated with multisystem damage. We successfully treated our patient with glucocorticoids and interleukin-6 antagonist. This patient’s response to treatment suggests that hormone therapy and cytokine/chemokine therapy may be a potential novel treatment for patients with ECD without gene mutations. Springer Nature Singapore 2022-06-10 2022 /pmc/articles/PMC9588466/ /pubmed/35687294 http://dx.doi.org/10.1007/s12185-022-03393-x Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . |
spellingShingle | Case Report Liu, Yongchang Huang, Changpin Meng, Xiaohu Fang, Xin Xie, Xupin Wang, Changrong Wang, Meiyun Rare presentation of multiple thromboses in Erdheim–Chester disease: a case-based review |
title | Rare presentation of multiple thromboses in Erdheim–Chester disease: a case-based review |
title_full | Rare presentation of multiple thromboses in Erdheim–Chester disease: a case-based review |
title_fullStr | Rare presentation of multiple thromboses in Erdheim–Chester disease: a case-based review |
title_full_unstemmed | Rare presentation of multiple thromboses in Erdheim–Chester disease: a case-based review |
title_short | Rare presentation of multiple thromboses in Erdheim–Chester disease: a case-based review |
title_sort | rare presentation of multiple thromboses in erdheim–chester disease: a case-based review |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9588466/ https://www.ncbi.nlm.nih.gov/pubmed/35687294 http://dx.doi.org/10.1007/s12185-022-03393-x |
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