Erdheim–Chester disease with cardiac involvement. Case report

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Erdheim–Chester disease (ECD) is a rare non-Langerhans histiocytosis with multisystem inflammatory infiltrates consistent of monocytes/macrophages, reactive microenvironment and fibrotic fields. Cardiovascular involvement is one of the most frequent manifestations of ECD that can lead to life threating complications. In this article we are reporting a clinical case of ECD with cardiac involvement in a young patient.

作者简介

Vitalii Latyshev

National Research Center for Hematology

编辑信件的主要联系方式.
Email: LatyshevVD@gmail.com
ORCID iD: 0000-0003-0643-8807

врач-гематолог отд-ния орфанных заболеваний

俄罗斯联邦, Moscow

Elena Mershina

Lomonosov Moscow State University

Email: LatyshevVD@gmail.com
ORCID iD: 0000-0002-1266-4926

канд. мед. наук, доц. каф. лучевой диагностики и лучевой терапии, зав. отд-нием рентгенодиагностики с кабинетами МРТ и КТ

俄罗斯联邦, Moscow

Irina Kostina

National Research Center for Hematology

Email: LatyshevVD@gmail.com
ORCID iD: 0000-0003-4683-4118

канд. мед. наук, врач-рентгенолог, зав. отд-нием рентгенологии и компьютерной томографии

俄罗斯联邦, Moscow

Valentin Sinitsyn

Lomonosov Moscow State University

Email: LatyshevVD@gmail.com
ORCID iD: 0000-0002-5649-2193

д-р мед. наук, проф., зав. каф. лучевой диагностики и лучевой терапии фак-та фундаментальной медицины, рук. отд. лучевой диагностики университетской клиники

俄罗斯联邦, Moscow

Elena Lukina

National Research Center for Hematology

Email: LatyshevVD@gmail.com
ORCID iD: 0000-0002-8774-850X

д-р мед. наук, проф., зав. отд-нием орфанных заболеваний

俄罗斯联邦, Moscow

参考

  1. Cohen-Aubart F, Emile J-F, Carrat F, et al. Phenotypes and survival in Erdheim-Chester disease: Results from a 165-patient cohort. Am J Hematol. 2018;93:E114-7. doi: 10.1002/ajh.25055
  2. Pegoraro F, Papo M, Maniscalco V, et al. Erdheim–Chester disease: a rapidly evolving disease model. Leukemia. 2020;34:2840-57. doi: 10.1038/s41375-020-0944-4
  3. Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease. Blood. 2020;135:1311-8. doi: 10.1182/blood.2019002766
  4. Haroche J, Charlotte F, Arnaud L, et al. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. Blood. 2012;120:2700-3. doi: 10.1182/blood-2012-05-430140
  5. Emile J-F, Diamond EL, Hélias-Rodzewicz Z, et al. Recurrent RAS and PIK3CA mutations in Erdheim-Chester disease. Blood. 2014;124:3016-9. doi: 10.1182/blood-2014-04-570937
  6. Diamond EL, Durham BH, Haroche J, et al. Diverse and Targetable Kinase Alterations Drive Histiocytic Neoplasms. Cancer Discov. 2016;6:154-65. doi: 10.1158/2159-8290.CD-15-0913
  7. Goyal G, Heaney ML, Collin M, et al. Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era. Blood. 2020;135:1929-45. doi: 10.1182/blood.2019003507
  8. Cives M, Simone V, Rizzo FM, et al. Erdheim–Chester disease: A systematic review. Crit Rev Oncol Hematol. 2015;95:1-11. doi: 10.1016/j.critrevonc.2015.02.004
  9. Estrada-Veras JI, O’Brien KJ, Boyd LC, et al. The clinical spectrum of Erdheim-Chester disease: an observational cohort study. Blood Adv. 2017;1:357-66. doi: 10.1182/bloodadvances.2016001784
  10. Arnaud L, Hervier B, Néel A, et al. CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood. 2011;117:2778-82. doi: 10.1182/blood-2010-06-294108
  11. Goyal G, Shah MV, Call TG, et al. Efficacy of biological agents in the treatment of Erdheim–Chester disease. Br J Haematol. 2018;183:520-4. doi: 10.1111/bjh.14997
  12. Arnaud L, Gorochov G, Charlotte F, et al. Systemic perturbation of cytokine and chemokine networks in Erdheim–Chester disease: a single-center series of 37 patients. Blood. 2011;117:2783-90. doi: 10.1182/blood-2010-10-313510
  13. Diamond EL, Subbiah V, Lockhart AC, et al. Vemurafenib for BRAF V600-Mutant Erdheim-Chester Disease and Langerhans Cell Histiocytosis. JAMA Oncol. 2018;4:384. doi: 10.1001/jamaoncol.2017.5029
  14. Diamond EL, Durham BH, Ulaner GA, et al. Efficacy of MEK inhibition in patients with histiocytic neoplasms. Nature. 2019;567:521-4. doi: 10.1038/s41586-019-1012-y
  15. Haroche J, Amoura Z, Dion E, et al. Cardiovascular Involvement, an Overlooked Feature of Erdheim-Chester Disease. Medicine (Baltimore). 2004;83:371-92. doi: 10.1097/01.md.0000145368.17934.91
  16. Haroche J, Cluzel P, Toledano D, et al. Cardiac Involvement in Erdheim-Chester Disease. Circulation. 2009;119. doi: 10.1161/CIRCULATIONAHA.108.825075
  17. Chester W. Über Lipoidgranulomatose. Virchows Arch Pathol Anat Physiol Klin Med. 1930;279:561-602. doi: 10.1007/BF01942684
  18. Gianfreda D, Palumbo AA, Rossi E, et al. Cardiac involvement in Erdheim-Chester disease: an MRI study. Blood. 2016;128:2468-71. doi: 10.1182/blood-2016-07-724815
  19. Ghotra AS, Thompson K, Lopez-Mattei J, et al. Cardiovascular manifestations of Erdheim–Chester disease. Echocardiography. 2019;36:229-36. doi: 10.1111/echo.14231
  20. Costa IBS da S, Abdo ANR, Bittar CS, et al. Cardiovascular Manifestations of Erdheim-Chester’s Disease: A Case Series. Arq Bras Cardiol. 2018. doi: 10.5935/abc.20180218
  21. Villatoro-Villar M, Bold MS, Warrington KJ, et al. Arterial involvement in Erdheim–Chester disease. Medicine (Baltimore). 2018;97:e13452. doi: 10.1097/MD.0000000000013452
  22. Das JP, Xie L, Riedl CC, et al. Cardiothoracic manifestations of Erdheim-Chester disease. Br J Radiol. 2019;92:20190473. doi: 10.1259/bjr.20190473
  23. Saunders IM, Goodman AM, Kurzrock R. Real-World Toxicity Experience with BRAF/MEK Inhibitors in Patients with Erdheim-Chester Disease. Oncologist. 2020;25. doi: 10.1634/theoncologist.2019-0606

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2. Fig. 1. Localization of infiltrates in the region of the heart and large vessels in patient K. (data from CT and MRI): a – infiltrate in the region of the left atrium with compression of the pulmonary veins (CT, 2020); b – rounded infiltrate in the region of the apex of the pancreas (MRI, 2018); c – para-aortic infiltrate (CT, 2018); d–f – Infiltrates in the pulmonary artery with narrowing of the lumen of the pulmonary artery (CT and MRI, 2020); g – three-dimensional reconstruction of CT images in 2018 (zones of specific infiltration are shown in red); h – Infiltrates in the region of the mouth of the inferior vena cava (MRI, 2020).

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3. Fig. 2. Trametinib-induced periorbital edema in patient K.

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