The Imperative of Interprofessional Collaboration in the Management of Erdheim-Chester Disease: Integrating Family Medicine, Pediatrics, Dentistry, Nursing, Pharmacy, Radiology, and Laboratory Services
DOI:
https://doi.org/10.22399/ijcesen.4795Keywords:
Erdheim-Chester Disease, Interprofessional Collaboration, Multidisciplinary Team, Rare Disease Management, Histiocytic Neoplasms, MAPK/ERK PathwayAbstract
Erdheim-Chester Disease (ECD), a rare multi-systemic histiocytic neoplasm, epitomizes the critical necessity for interprofessional collaboration (IPC) in modern healthcare. Its diagnosis and management present a formidable challenge that no single medical specialty can address in isolation due to the disease's protean manifestations, which can span skeletal, cardiovascular, neurological, renal, and dermatological systems. An effective IPC model for ECD strategically integrates the longitudinal oversight and coordination of Family Medicine, the developmental expertise of Pediatrics, the oral-systemic health vigilance of Dentistry, the continuous care and patient education provided by Nursing, the pharmacotherapeutic precision and safety surveillance of Pharmacy, the diagnostic and monitoring prowess of Radiology, and the definitive histopathological and molecular diagnostics from Laboratory Services. This synergistic approach mitigates the diagnostic delays and fragmented care typical of rare diseases by ensuring continuous communication, comprehensive patient assessment, personalized treatment planning, and holistic support. Ultimately, this collaborative framework transforms the management paradigm from reactive, specialty-specific interventions into a proactive, patient-centered strategy aimed at improving diagnostic accuracy, optimizing targeted therapy, managing complex comorbidities, and enhancing the overall quality of life for individuals navigating this complex condition.
References
[1] Diamond EL, Subbiah V, Lockhart AC, Blay JY, Puzanov I, Chau I, et al. Vemurafenib for BRAF V600–mutant erdheim-chester disease and langerhans cell histiocytosis. JAMA Oncol. 2018;4:384.
[2] Bartoli L, Angeli F, Stefanizzi A, Fabrizio M, Paolisso P, Bergamaschi L, et al. Genetics and clinical phenotype of Erdheim–Chester disease: A case report of constrictive pericarditis and a systematic review of the literature. Front Cardiovasc Med. 2022;9.
[3] Weissman R, Diamond EL, Haroche J, Pillar N, Shapira G, Durham BH, et al. The contribution of microRNAs to the inflammatory and neoplastic characteristics of erdheim–chester disease. Cancers (Basel). 2020;12:3240.
[4] Khoury JD, Solary E, Abla O, Akkari Y, Alaggio R, Apperley JF, et al. The 5th edition of the world health organization classification of haematolymphoid tumours: myeloid and histiocytic/dendritic neoplasms. Leukemia. 2022;36:1703–19.
[5] Pegoraro F, Maniscalco V, Peyronel F, Westenend PJ, Hendriksz TR, Roperto RM, et al. Long-term follow-up of mTOR inhibition for Erdheim-Chester disease. Blood. 2020;135:1994–7.
[6] Saunders IM, Goodman AM, Kurzrock R. Real-world toxicity experience with BRAF/MEK inhibitors in patients with erdheim-chester disease. Oncologist. 2020;25:e386–90.
[7] Arnaud L, Hervier B, N.el A, Hamidou MA, Kahn JE, Wechsler B, 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.
[8] Reiner AS, Durham BH, Yabe M, Petrova-Drus K, Francis JH, Rampal RK, et al. Outcomes after interruption of targeted therapy in patients with histiocytic neoplasms. Br J Haematol. 2023;203:389–94.
[9] Elbaz Younes I, Ellis A, Zhang X. Updates on erdheim-chester disease. Hum Pathol Rep. 2022;28:300636.
[10] Chazal T, Pegoraro F, Manari G, Bettiol A, Maniscalco V, Gelain E, et al. Clinical phenotypes and long-term outcome of kidney involvement in Erdheim-Chester histiocytosis. Kidney Int. 2023;103:177–86.
[11] Berti A, Cavalli G, Guglielmi B, Biavasco R, Campochiaro C, Tomelleri A, et al. Tocilizumab in patients with multisystem Erdheim–Chester disease. Oncoimmunology. 2017;6(6):e1318237.
[12] Antunes C, Gra.a B, Donato P. Thoracic, abdominal and musculoskeletal involvement in Erdheim-Chester disease: CT, MR and PET imaging findings. Insights into Imaging. 2014;5:473–82.
[13] Gianfreda D, Nicastro M, Galetti M, Alberici F, Corradi D, Becchi G, et al. Sirolimus plus prednisone for Erdheim-Chester disease: an open-label trial. Blood. 2015;126:1163–71.
[14] He J, Fang X, Zhang X, Chen K, Huang J. Extensive aortic thromboembolism in a patient with erdheim-chester disease: A case report. Front Cardiovasc Med. 2022;9.
[15] Salama HA, Jazieh AR, Alhejazi AY, Absi A, Alshieban S, Alzahrani M, et al. Highlights of the management of adult histiocytic disorders: langerhans cell histiocytosis, erdheim-chester disease, rosai-dorfman disease, and hemophagocytic lymphohistiocytosis. Clin Lymphoma Myeloma Leuk. 2021;21:e66–75.
[16] Cohen-Aubart F, Maksud P, Saadoun D, Drier A, Charlotte F, Cluzel P, et al. Variability in the efficacy of the IL1 receptor antagonist anakinra for treating Erdheim-Chester disease. Blood. 2016;127:1509–12.
[17] Abeykoon JP, Ravindran A, Rech KL, Young JR, Oliver Tobin W, Shah MV, et al. Mimics of erdheim–chester disease. Br J Haematol. 2022;196:984–94.
[18] Hervier B, Arnaud L, Charlotte F, Wechsler B, Piette JC, Amoura Z, et al. Treatment of erdheim-chester disease with long-term high-dose interferon-α. Semin Arthritis Rheumatol. 2012;41:907–13.
[19] Braiteh F, Boxrud C, Esmaeli B, Kurzrock R. Successful treatment of Erdheim-Chester disease, a non–Langerhans-cell histiocytosis, with interferon-α. Blood. 2005;106:2992–4.
[20] Goyal G, Heaney ML, Collin M, Cohen-Aubart F, Vaglio A, Durham BH, et al. Erdheim-Chester disease: consensus recommendations for evaluation, diagnosis, and treatment in the molecular era. Blood. 2020;135:1929–45.
[21] Diamond EL, Francis JH, Lacouture ME, Rotemberg V, Yabe M, Petrova-Drus K, et al. CSF1R inhibition for histiocytic neoplasm with CBL mutations refractory to MEK1/2 inhibition. Leukemia. 2023;37:1737–40.
[22] Dray B, Emile JF, Cohen-Aubart F, Amoura Z, Wagner M, Haroche J, et al. Abdominal extrarenal involvement in erdheim-chester disease in a cohort of 304 patients. JAMA Oncol. 2022;8:1843.
[23] Abla O. Management of ECD: the era of targeted therapies. Blood. 2020;135:1919–20.
[24] Cohen Aubart F, Emile JF, Carrat F, Charlotte F, Benameur N, Donadieu J, et al. Targeted therapies in 54 patients with Erdheim-Chester disease, including follow-up after interruption (the LOVE study). Blood. 2017;130:1377–80.
[25] Martínez-López J, Márquez A, Pegoraro F, Ortiz-Fernández L, Acosta-Herrera M, Kerick M, et al. Genome-wide association study identifies the first germline genetic variant associated with erdheim-chester disease. Arthritis Rheumatol. 2024;76:141–5.
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