What is it about?
Erdheim-Chester disease is a devastating and rare disease, first described in 1930, 750 cases have been reported since then, half of them since 2012. Its diagnose is elusive, delaying and challenging, and its treatment is difficult. We report a case with resolved menacing heart tamponade and control of alarming inflamed eye bulging, annoying facial pain and chronic diabetes insipidus.
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Why is it important?
We provide some clues to improve Erdheim-Chester disease diagnosis and treatment, as well as an extensive revision of what is published about this rare disease till now to contribute to its knowledge. The patient has provided the report of how she has lived the disease process.
Perspectives
I suffered to the same extent I was interested in obtaining the diagnosis. I felt excited when we got it, because we started to understand what the patient was suffering from, but challenged because the patient was in a bad condition and the treatment was difficult. I suffered again when she suffered a shocking adverse reaction, and felt excited again when we could overcome it. I think that my feelings have been in parallel to ones of the patient, her family and my colleagues. Writing this caser report has been a good experience, I have enjoyed doing so as well as my knowledge has improved. I am grateful to the patient for accepting to write her report about how she has lived the disease process and for her consent to publish it and the case report, as well as to my colleagues and personal in the hospital who have participated in the care and diagnosis of the patient, to the hospital as institution, and to the co-authors for their decisive contribution to the publication. They have made me feel confident. I am expectant, somewhat uncertain, but hopeful for the disease management in the future; the patient must be followed up for life.
MD, PhD Jaume Monmany
Hospital de la Santa Creu i Sant Pau, Barcelona
Not only this exemplifies a case of complex diagnosis and management but in addition it provides a comprehensive review on a rare disease, ECD difficult to find even in reviws of specialized journals. In asummary, complex diagnosis, complex management, and comprehensive. Tha's all an internist can ask for
Pere Domingo
Read the Original
This page is a summary of: Resolved heart tamponade and controlled exophthalmos, facial pain and diabetes insipidus due to Erdheim-Chester disease, BMJ Case Reports, October 2018, BMJ,
DOI: 10.1136/bcr-2018-225224.
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