Cardiovascular Disease Risk Factor Assessment with a Focus on Primary Prevention Among Amish Men with Hemophilia B: A Single Center Experience
Authors: Rajkumar Aarthi , Grinsztejn Eduarda , Nayak Lalitha 
Published: December 2024

Introduction
Contrary to the belief that people with hemophilia (PWH) are protected from cardiovascular disease (CVD), recent research has shown that the incidence is similar to general population. Management of cardiac conditions requiring intervention such as use of antiplatelet medications in PWH with CVD can be challenging due to the risk of bleeding and the necessity for factor replacement therapy. The Amish community in Northern Ohio is a distinct population with unique sociocultural characteristics and is known to harbor a founder mutation for hemophilia B. Also, cardiovascular risk factors such as hypertension, diabetes, obesity and smoking are quite prevalent among this population. We aimed to assess the prevalence of CVD among Amish PWH under the care of our hemophilia treatment center (HTC). Additionally, we sought to evaluate the cardiovascular risk in those without known CVD using the atherosclerotic cardiovascular disease (ASCVD) risk calculator.
Methods
We performed a retrospective chart review of Amish patients &gt; 40 years old that had at least 2 annual visits between 2021-2023 at our community outreach clinic, which is part of our HTC. We documented any known cardiac condition such as coronary artery disease, heart failure, valvular heart disease or arrythmias requiring intervention and use of factor prophylaxis. We calculated the ASCVD score for individuals without prior cardiac history, using standard parameters: personal history of diabetes, smoking status, systolic blood pressure, use of antihypertensives, total cholesterol, and high-density lipoprotein (HDL) levels and categorized them as low, borderline, intermediate or high risk based on the ASCVD score value of 0-4.9%, 5-7.4%, 7.5-19.9% and &gt; 20%, respectively.
Results
A total of 79 Amish PWH were followed between 2021-2023 at our community outreach clinic, of those 36 were men &gt; 40 years. Six of the 36 individuals had known CVD; 2 had coronary artery disease needing bypass surgery and the remaining 4 had aortic valve stenosis that required trans catheter aortic valve replacement. All of them needed factor replacement for the procedure and briefly while they were on antiplatelet agents. One of the 6 developed heart failure and atrial fibrillation hence needed long term anticoagulation and is on weekly factor prophylaxis. Among the rest with no known CVD, only 12 were noted to have lipid panel testing. The mean total cholesterol was 203.9 mg/dL, HDL was 46.8mg/dL.10 of the 12 had moderate severity of hemophilia with factor levels ranging between 3-5%, nine had systolic blood pressure &gt;120 mmHg in consecutive clinic visits yet only 1 was on antihypertensive medication. Majority were nonsmokers (9/12) and none had diabetes The ASCVD risk score ranged from 5.6-23% with a mean of 11.4, which is classified as intermediate risk for cardiac disease or stroke in next 10 years and none of the patients were on statin therapy.
Conclusion
Our study showed that CVD was as prevalent among Amish PWH compared to age- and gender- matched population. It also highlights gaps in CVD screening and undertreatment of cardiovascular risk factors. As Amish community do not obtain routine health insurance coverage, factor replacement therapy during treatment of cardiac disease significantly increases health care cost and burden. Therefore, efforts to improve primary prevention of cardiac disease should be undertaken. Future prospective multicenter studies are crucial to further quantify CVD burden in Amish PWH and to devise strategies to mitigate cardiac mortality.