Erdheim-Chester Disease — Research Summary
Printed from RareWays (rareways.com.au) on 18 September 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Cerebrovascular involvement in Erdheim-Chester disease: a case report and systematic literature review.
Delacotte Claire et al. — Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia (1 November 2026)
https://pubmed.ncbi.nlm.nih.gov/42497572/
- 2.
Efficacy and Tolerance of Cladribine for Non-Langerhans Cell Histiocytosis.
Riller Quentin et al. — European journal of haematology (1 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42082308/
- 3.
Atrial Pseudomasses in Erdheim-Chester Disease.
Azoulay Lévi-Dan et al. — JAMA cardiology (9 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42714897/
- 4.
Novel BRAF fusion in Erdheim-Chester disease with pulmonary manifestations: Importance of RNA-based testing and response to MEK inhibition.
Odintsov Igor et al. — Histopathology (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42082348/
- 5.
Local disease control in patients with Erdheim-Chester disease treated with external beam radiation therapy.
Kessel Adam C et al. — British journal of haematology (1 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42517545/
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Erdheim-Chester Disease
Erdheim-Chester disease is a rare histiocytosis in which the body makes too many of a type of immune cell that builds up in tissues. It most often affects the long bones of the legs, but can also involve the kidneys, heart, lungs, skin, eyes and brain. Many people carry a BRAF or other MAP kinase gene change in these cells, and targeted medicines and other treatments are chosen to match the organs involved.
Most Recent Research
BACKGROUND: Intracranial perivascular/vascular infiltrations and stenoses related to Erdheim-Chester disease (ECD), often associated with ischemic events, are rarely documented. This study aims to characterize intracranial perivascular/vascular infiltrations and stenoses. METHODS: We first report a new case of strokes revealing ECD with intracranial arterial involvement. We then searched all English- and French-language publications from database inception to November 2025 across 12 different search interfaces, including grey literature sources. Vascular involvement was defined by the presence of intracranial perivascular/vascular infiltrations and stenosis on imaging and/or histopathological evidence of small-vessel involvement. Cases with intracranial nodules or masses abutting vessels but without clear longitudinal perivascular infiltration were excluded. RESULTS: We present a case of recurrent strokes with intracranial vertebral and basilar artery wall stenosis, and aortitis. Initially diagnosed as giant cell arteritis, the patient was treated with corticosteroids, cyclophosphamide followed by methotrexate, but relapsed. The identification of tibial osteosclerosis led to the diagnosis of ECD, with a favorable response to anakinra. Twelve relevant articles were retrieved, in addition to our own case. Most patients exhibited focal cerebrovascular signs (11/13) and associated parenchymal involvement (11/13). Intracranial perivascular/vascular infiltrations and stenoses involved the carotid arteries (7/13), the vertebrobasilar arteries (1/13), or both territories (4/13). Aorta was involved in 8/12 cases. Among the nine patients with available follow-up data, five had poor overall or neurovascular outcomes. CONCLUSIONS: Intracranial perivascular/vascular infiltrations and stenoses, which leads to recurrent focal ischemic events, represents a likely underdiagnosed CNS pattern in ECD, referred to as "cerebrovascular ECD", which worsens overall prognosis. Vascular imaging should be included in brain MRI protocols for patients with ECD, given the overlap with parenchymal involvement.
Common Questions
What is Erdheim-Chester Disease?
Erdheim-Chester disease is a rare histiocytosis in which the body makes too many of a type of immune cell that builds up in tissues. It most often affects the long bones of the legs, but can also involve the kidneys, heart, lungs, skin, eyes and brain. Many people carry a BRAF or other MAP kinase gene change in these cells, and targeted medicines and other treatments are chosen to match the organs involved.
How many clinical trials are available for Erdheim-Chester Disease?
RareWays currently indexes 14 clinical trials for Erdheim-Chester Disease, of which 10 are actively recruiting. Trial availability changes as new studies are registered — check the trials tab for current status.
Where does the research data for Erdheim-Chester Disease come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is updated regularly by Rocky, RareWays' automated research engine. All articles and trials link directly to their original sources.
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This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.