An Autopsied Case of Erdheim-Chester Disease with Severe Cardiovascular Involvement
Erdheim-Chester disease (ECD) is a rare type of non-Langerhans cell histiocytosis, characterized by the infiltration of disease-specific foamy histiocytes, polymorphic granulomas, and fibrosis. Although cardiovascular involvement is observed radiologically in approximately half of ECD patients, only a few reports have described its pathological features. We herein report the autopsy of an ECD patient with pulmonary, cardiovascular, and retroperitoneal involvement that may have caused his death. Autopsy revealed the pathological association of coronary and renal arterial stenosis with the BRAF<sup>V600E</sup> gene mutation. BRAF mutations should be considered in patients with ECD, especially in those with arterial lesions.
Authors
- Akihiko Yoshizawa (ORCID: https://orcid.org/0000-0003-1462-7341)
- Masakazu Fujimoto (ORCID: https://orcid.org/0000-0002-0575-6507)
- Ryo Sakamoto (ORCID: https://orcid.org/0000-0003-1310-9403)
- Michihiro Uyama
- Akihiko Sugimoto (ORCID: https://orcid.org/0000-0001-8160-0267)
- Tomohiro Handa (ORCID: https://orcid.org/0000-0002-3378-6412)
- Kohei Ikezoe (ORCID: https://orcid.org/0000-0003-1097-2084)
- Kiminobu Tanizawa (ORCID: https://orcid.org/0000-0002-5719-0744)
- Atsushi Matsunashi (ORCID: https://orcid.org/0000-0002-5184-6837)
- Zhipeng Wang (ORCID: https://orcid.org/0000-0003-1972-0027)
- Toyohiro Hirai
Institutions
- Kyoto University (JP)
- Nara Medical University (JP)
Publication Details
- Journal
- Internal Medicine
- Published
- 2024-11-27
- DOI
- https://doi.org/10.2169/internalmedicine.4247-24
- Citations
- 2
- Primary Topic
- Histiocytic Disorders and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 0.65