https://orcid.org/0000-0003-1685-6690
Key Points
Patients with cardiac-involved ECD had more cardiovascular morbidities, even before diagnosis, than those without, and a matched cohort.
Patients with cardiac-involved ECD had shorter PFS from frontline therapy than those without, but targeted therapy improved 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 disease burden. This study evaluated the prevalence, characteristics, and prognosis of ECD in patients with (ECD-C) and without (ECD-noC) cardiac involvement 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 to a control group without ECD, matched for age, sex, body mass index, and smoking history. Among 104 ECD patients, 39 (37%) had cardiac involvement. ECD-C had higher rates of hypertension (67% vs. 46%, p=0.046), hyperlipidemia (67% vs. 40%, p=0.015), heart failure (36% vs. 8%, p<0.001), and pericardial effusion (28% vs. 2%, p<0.001) than ECD-noC. Compared with the matched non-ECD cohort, ECD patients had higher prevalence of coronary artery disease (20% vs. 7%, p<0.001), heart failure (18% vs. 4%, p<0.001), and antihypertensive drug use (55% vs. 40%, p=0.004). Notably, patients with ECD-C had inferior progression-free survival (PFS) from frontline therapy compared to ECD-noC (p=0.016, 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 to ECD-noC. Our findings highlight the need for comprehensive cardiac risk assessment and management strategies to improve patient outcomes.
