Considering social and genetic factors in addition to clinical factors improves prediction of heart disease risk

Embargoed for release until 5:00 p.m. ET on Monday 9 December 2024    

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Below please find summaries of new articles that will be published in the next issue of Annals of Internal Medicine. The summaries are not intended to substitute for the full articles as a source of information. This information is under strict embargo and by taking it into possession, media representatives are committing to the terms of the embargo not only on their own behalf, but also on behalf of the organization they represent.         
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1. Considering social and genetic factors in addition to clinical factors improves prediction of heart disease risk

Study suggests opportunity to improve risk prediction calculators for CHD by incorporating social and lifestyle factors

Abstract: https://www.acpjournals.org/doi/10.7326/ANNALS-24-00716

URL goes live when the embargo lifts          

A cohort study evaluated how polygenic risk scores (PRS) and polysocial scores (PSS), which include social determinants of health (SDOH) and lifestyle-psychological factors, correlate to risk of coronary heart disease (CHD) by developing a CHD prediction model incorporating these elements. The results highlight the value of including these factors in clinical risk calculators for CHD. The study is published in Annals of Internal Medicine.

Development of CHD can result from genetic factors, environmental risks and lifestyle-psychological variables; however, these factors are not yet included in clinical risk calculators for CHD.  Researchers from the Mayo Clinic studied data from 388,224 UK biobank participants aged 40 to 70 years recruited between 2006 and 2010 to develop and evaluate a prediction model that incorporated PRS and PSS to improve CHD risk prediction. Participants who were known to have CHD or were taking statins were excluded from the study. The researchers gathered data about their demographic, genetic, SDOH, lifestyle-psychological and other health factors by examining the results of participant questionnaires, physical assessments and biochemical assays. The researchers examined the correlation between various SDOH and lifestyle-psychological factors, including occupation, sleep and physical activity, and risk of CHD, and then developed a PSS for CHD. The researchers also tested whether a PSS changes the effect of a PRS when evaluating risk of CHD. They investigated the performance of a PSS for CHD when added to clinical risk calculators and PRS. They also explored whether those who identified as non-White were at higher risk for CHD than those identified as White.

The researchers found that a PSS for CHD was associated with CHD, and jointly modeling this score with PRS for CHD can improve the performance of clinical risk calculators. The SDOH and lifestyle-psychological factors that had the highest variable of importance in CHD risk prediction were related to physical activity, sleep, education and psychological health. Additionally, factors like snoring, financial difficulties and slow walking pace were associated with an increased risk of CHD. Patients identifying as non-White had a higher PSS for CHD than those who identified as white. The researchers also found that PSS and PRS for CHD had no correlation and their effects on CHD were independent of each other. The findings suggest that the integration of PRS, SDOH, and lifestyle-psychological factors in CHD risk equations can improve risk prediction of CHD and could also inform targeted CHD interventions across diverse populations.

Media contacts: For an embargoed PDF, please contact Angela Collom at acollom@acponline.org. To speak with corresponding author Iftikhar J. Kullo, MD, please email kullo.iftikhar@mayo.edu.

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2. Experts debate management of patient with gastroesophageal reflux symptoms

This ‘Beyond the Guidelines’ feature is based on a discussion held at the General Medicine Grand Rounds conference held on 10 May 2024

Abstract: https://www.acpjournals.org/doi/10.7326/ANNALS-24-02808

URL goes live when the embargo lifts          

In a new Annals “Beyond the Guidelines” feature, two physicians, a primary care practitioner and a gastroenterologist, discuss the management of a patient with gastroesophageal reflux disease (GERD) symptoms. GERD is a common medical condition presenting with heartburn, regurgitation, cough, hoarseness and/or wheezing. The optimal management of GERD depends on the frequency and severity of conditions and does not always require diagnostic studies before treatment is initiated. In 2021, the American College of Gastroenterology published updated recommendations for diagnosis and management of GERD which include histamine-2 receptor antagonist (H2RA) or proton-pump inhibitor (PPI) therapy.

The discussants reviewed the case of a 68-year-old adult female patient who reported a burning sensation in the chest and throat at night over the past few weeks. Her most recent physical exam shows normal vital signs, body mass index of 19.3 kg/m2 and soft, nontender abdomen without evidence of mass or organomegaly. The patient’s weight has been stable and does not have any other associated gastrointestinal symptoms or cough. She has a family history of gastrointestinal cancer and had a normal upper endoscopy 12 years ago for evaluation of nonspecific gastrointestinal symptoms.

The first discussant, Timothy S. Anderson, MD, MAS, is an Assistant Professor in the Division of General Internal Medicine at the University of Pittsburgh, and a Physician Health Services Investigator at the VA Pittsburgh Healthcare System, Pittsburgh, Pennsylvania. He noted that in patients with standard GERD who do not have alarm symptoms or chest pains, diagnostic testing is not needed, and an 8-week course of empirical anti-reflux therapy should be initiated. He mentioned that systematic reviews indicate the PPIs deliver more benefits in relieving symptoms and maintaining symptom relief than H2RAs and noted that lifestyle management is an important factor of GERD management. Because the patient does not have any alarm symptoms, Dr. Anderson recommends forgoing diagnostic testing and beginning an 8-week PPI treatment along with lifestyle modifications like reducing alcohol intake, avoiding late night snacks and elevating the head of her bed. If her symptoms have little to no improvement after 8-weeks of consistent PPI treatment and lifestyle changes, he would refer her for an upper endoscopy to better inform her diagnosis and treatment plan. 

The second discussant, Vikram V. Rangan, MD, is an Assistant Professor of Medicine at Harvard Medical School, and a member of the Division of Gastroenterology in the Department of Medicine at Beth Israel Deaconess Medical Center, Boston, Massachusetts. He agrees with Dr. Anderson that there is an immediate upper endoscopy is not needed given the lack of alarm symptoms, however, he notes that throat burning is atypical for GERD and recommends an upper endoscopy to be performed at the time of the patient’s upcoming routine screening colonoscopy. In the meantime, he would initiate an 8-week course of PPI treatment for presumed GERD. If symptoms do not improve, he recommends objective reflux testing, specifically wireless pH testing while PPI therapy is withdrawn, assuming upper endoscopy did not show findings diagnostic of GERD. If testing were suggestive of GERD, he would optimize her PPI dosage and consider adding night-time H2RA and/or alginate therapy after meals if there was an inadequate response. 

All “Beyond the Guidelines” features are based on selected clinical conferences at Beth Israel Deaconess Medical Center (BIDMC) and include multimedia components published in the Annals of Internal Medicine.  

Media contacts: For an embargoed PDF, please contact Angela Collom at acollom@acponline.org. To speak with one of the discussants, please contact Kendra McKinnon at Kmckinn1@bidmc.harvard.edu. 

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Also new in this issue:

Management of Hyperglycemia in Hospitalized Patients

Roma Gianchandani, MD; Margaret Wei, MD; and Andrew Demidowich, MD

In the Clinic

Abstract: https://www.acpjournals.org/doi/10.7326/ANNALS-24-02754