Cardiovascular degeneration in Erdheim-Chester disease: prevalence, burden, and outcomes

Erdheim-Chester disease (ECD) is a rare systemic histiocytic neoplasm, with cardiac morbidities, including cardiovascular (CV) risk factors and cardiac conditions, playing a significant yet poorly understood role in the disease burden. This study evaluated the prevalence, characteristics, and prognosis of ECD in patients with (ECD-C) and without cardiac involvement (ECD-noC) and compared the burden of cardiac morbidities with matched controls. Patients diagnosed with ECD between 1990 and 2021 at a tertiary center were included, with cardiac involvement centrally assessed using radiographic studies. Cardiac morbidities were compared with a control group without ECD, matched for age, sex, body mass index, and smoking history. Among 104 patients with ECD, 39 (37%) had cardiac involvement. Patients with ECD-C had higher rates of hypertension (67% vs 46%), hyperlipidemia (67% vs 40%), heart failure (36% vs 8%), and pericardial effusion (28% vs 2%) than those with ECD-noC. Compared with the matched non-ECD cohort, patients with ECD had higher prevalence of coronary artery disease (20% vs 7%), heart failure (18% vs 4%), and antihypertensive drug use (55% vs 40%). Notably, patients with ECD-C had inferior progression-free survival (PFS) from frontline therapy compared with patients with ECD-noC (5-year PFS, 28.3% vs 70.5%). These findings highlight the burden of CV risk factors and cardiac conditions in ECD, even without a clinical diagnosis of ECD-C. Importantly, this cardiac morbidity burden is substantial for patients with ECD-C compared with ECD-noC. Our findings highlight the need for comprehensive cardiac risk assessment and management strategies to improve patient outcomes.

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Journal
Blood Advances
Published
2025-08-28
DOI
https://doi.org/10.1182/bloodadvances.2025016608
Primary Topic
Histiocytic Disorders and Treatments
Type
article
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article

Cardiovascular degeneration in Erdheim-Chester disease: prevalence, burden, and outcomes

Caroline Davidge‐Pitts, Gordon Ruan, Thomas E. Witzig, Grant M. Spears et al.
Blood Advances
Histiocytic Disorders and Treatments
article

Cardiovascular degeneration in Erdheim-Chester disease: prevalence, burden, and outcomes

Caroline Davidge‐Pitts, Gordon Ruan, Thomas E. Witzig, Grant M. Spears, Jithma P. Abeykoon, Matthew J. Koster, Lucinda Gruber, Julio C. Sartori‐Valinotti, Mithun Vinod Shah, Madeline Mahowald, Ronald S. Go, Muhamad Alhaj Moustafa, Robert Vassallo, Gaurav Goyal, R. Tawfiq, Surendra Dasari, Jay Hoon Ryu, Dongni Yi, N. Nora Bennani, W. Oliver Tobin, Talal Hilal, Saurabh Zanwar, Aldo A. Acosta‐Medina, Karen L. Rech, Aishwarya Ravindran, Ubenthira Patgunarajah, Jason R. Young
article en

Abstract

Erdheim-Chester disease (ECD) is a rare systemic histiocytic neoplasm, with cardiac morbidities, including cardiovascular (CV) risk factors and cardiac conditions, playing a significant yet poorly understood role in the disease burden. This study evaluated the prevalence, characteristics, and prognosis of ECD in patients with (ECD-C) and without cardiac involvement (ECD-noC) and compared the burden of cardiac morbidities with matched controls. Patients diagnosed with ECD between 1990 and 2021 at a tertiary center were included, with cardiac involvement centrally assessed using radiographic studies. Cardiac morbidities were compared with a control group without ECD, matched for age, sex, body mass index, and smoking history. Among 104 patients with ECD, 39 (37%) had cardiac involvement. Patients with ECD-C had higher rates of hypertension (67% vs 46%), hyperlipidemia (67% vs 40%), heart failure (36% vs 8%), and pericardial effusion (28% vs 2%) than those with ECD-noC. Compared with the matched non-ECD cohort, patients with ECD had higher prevalence of coronary artery disease (20% vs 7%), heart failure (18% vs 4%), and antihypertensive drug use (55% vs 40%). Notably, patients with ECD-C had inferior progression-free survival (PFS) from frontline therapy compared with patients with ECD-noC (5-year PFS, 28.3% vs 70.5%). These findings highlight the burden of CV risk factors and cardiac conditions in ECD, even without a clinical diagnosis of ECD-C. Importantly, this cardiac morbidity burden is substantial for patients with ECD-C compared with ECD-noC. Our findings highlight the need for comprehensive cardiac risk assessment and management strategies to improve patient outcomes.

Blood AdvancesVol. 9(23)
Mayo Clinic (US), University of Florida Health (US), Jacksonville College (US), WinnMed (US), University of Alabama at Birmingham (US), Mayo Clinic in Arizona (US), Mayo Clinic Hospital (US), Mayo Clinic in Florida (US), University of Florida Health Science Center (US)
Openalex Percentile: Top 72%
Histiocytic Disorders and Treatments
DOIOpen Access PDFOpenAlex
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