2026 - MS - The Clue Was the Blood Pressure: Atypical Erdheim-Chester Disease - Jithma Abeykoon

In this interactive case-based presentation from the Erdheim-Chester Disease Global Alliance (ECDGA) Medical Symposium, Dr. Jithma Abeykoon from Mayo Clinic Rochester discusses an atypical Erdheim-Chester Disease (ECD) case where resistant hypertension became an important clinical clue. Through this challenging case, Dr. Abeykoon explores key unanswered questions in ECD diagnosis, imaging, treatment selection, response assessment, and long-term management. The case follows a 51-year-old male referred for possible ECD after years of episodic abdominal pain, low-grade fevers, night sweats, progressive retroperitoneal and perirenal soft tissue findings, adrenal involvement, spleen enlargement, and difficult-to-control blood pressure. The presentation highlights how ECD can sometimes appear in non-classical ways and why multidisciplinary evaluation, imaging review, pathology, and molecular testing are essential in complex cases. This presentation covers important topics including: • How ECD may present with atypical or non-classical features • Resistant hypertension as a possible clinical clue in selected cases • Perirenal, adrenal, vascular, pericardial, splenic, and bone involvement in ECD • How constitutional symptoms such as fevers, night sweats, fatigue, or weight loss may appear in some patients • The role of PET/CT, bone scan, MRI, and other imaging tools in evaluating ECD • Differential diagnoses such as IgG4-related disease, retroperitoneal fibrosis, lymphoma, and sarcoidosis • Why tissue biopsy and molecular testing can help clarify diagnosis • MAP2K1 alterations and their role in guiding targeted therapy discussions • When targeted therapy may be considered versus non-targeted approaches • Treatment monitoring, response assessment, treatment holidays, fertility considerations, and follow-up challenges Dr. Abeykoon also leads an expert discussion on practical clinical questions, including whether ECD should always be treated with targeted therapy when a MAPK pathway mutation is present, how long patients may remain on treatment, how response should be monitored, and how fertility preservation may be approached before starting certain therapies. This case underscores the importance of looking carefully for red flags, recognizing atypical patterns, and using a comprehensive approach to diagnosis and care. It also highlights how expert collaboration can help improve decision-making in a rare and complex disease like ECD. This video is part of ECDGA’s mission to raise awareness, provide education and support, and encourage research related to Erdheim-Chester Disease and related histiocytic disorders. The Erdheim-Chester Disease Global Alliance is a 501(c)(3) nonprofit organization dedicated to awareness, support, education, and research for those affected by ECD. Learn more about ECDGA, educational resources, events, research updates, and support opportunities at: https://www.erdheim-chester.org/ Disclaimer: The Erdheim-Chester Disease Global Alliance (ECDGA) does not provide medical advice, diagnoses, or treatments. All content is for informational purposes only. Please consult with a healthcare provider for medical concerns.