Journal of clinical lipidology最新文献

{"title":"The Family Heart Foundation™ Flag, Identify, Network, Deliver—Familial Hypercholesterolemia (FIND-FH™) Program and Collaborative Learning Network (CL","authors":"Diane MacDougall MS,&nbsp;George Blike MD","doi":"10.1016/j.jacl.2024.04.019","DOIUrl":"10.1016/j.jacl.2024.04.019","url":null,"abstract":"<div><h3>Study Funding</h3><p>Funded in part by AMGEN.</p></div><div><h3>Background/Synopsis</h3><p>The Family Heart Foundation (FHF) developed a machine learning model (MLM), FIND-FH, to flag undiagnosed individuals at high risk for familial hypercholesterolemia (FH). The model utilizes structured electronic health record (EHR) data. Past implementation of FIND-FH in a large health system identified 2167 high risk patients appropriate for outreach; 153 (7%) were clinically assessed, 46 (30%) diagnosed with FH. FHF was not involved in developing the approach to patient outreach or patient facing materials in this initial deployment.</p></div><div><h3>Objective/Purpose</h3><p>To characterize interim progress and performance metrics regarding screening, outreach, and diagnosis of patients identified by FIND-FH at 5 health systems participating in FHF led Collaborative Learning Network (CLN).</p></div><div><h3>Methods</h3><p>The FHF CLN team works with CLN members using implementation and quality science tools including expert interviews, patient journey mapping, current state process mapping and rapid cycle tests of change. Patient facing materials are jointly developed by FHF in conjunction with FH patients and CLN members. Performance metrics include: #Identified as High Risk of FH; #Appropriate for Outreach/Assessment; #Completed Assessment; #New Diagnosis Definite/Probable/Possible FH; #Needing Other CV Risk Reduction Intervention(s).</p></div><div><h3>Results</h3><p>Currently ∼1.85M EHRs have been screened by FIND-FH, identifying 3,720 at high FH risk. To date, chart reviews completed on 1278 found 628/1278 (49%) unlikely to have FH. The remaining 650/1278 (51%) were deemed appropriate for outreach/assessment. Of 91/650 (14%) patients assessed thus far, 71/91 (78%) were diagnosed as definite/probable/possible FH. Multiple patients not diagnosed with FH, had conditions requiring intervention to lower cardiovascular risk. Patient facing letters and resources were found to be acceptable to individuals diagnosed with FH.</p></div><div><h3>Conclusions</h3><p>Deployment of FIND-FH through a CLN provides proof-of-concept of the ability of an implementation science framework to improve the diagnosis and care for patients with FH. Preliminary performance metrics are promising, yet difficult to directly compare to prior efforts. Health systems used targeted chart review to avoid outreach and assessment of patients “not likely to have FH.” Patient facing materials developed in conjunction with FH patients and made available to all CLN members prevented duplication of efforts at individual health systems. Insights gained from the CLN are informing the development of more efficient, effective, scalable and sustainable care delivery systems for “FIND”ing individuals living with FH.</p></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"18 4","pages":"Pages e496-e497"},"PeriodicalIF":3.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141850118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of a Clinical Diagnostic Score for Familial Chylomicronemia Syndrome (FCS)","authors":"Cynthia Campos MPH,&nbsp;Zahid Ahmad MD,&nbsp;Ambika Ashraf MD,&nbsp;Andrew Baldassarra BA,&nbsp;Alan Brown MD,&nbsp;Alan Chait MD,&nbsp;Steven Freedman MD,&nbsp;Brenda Kohn MD,&nbsp;Michael Miller MD,&nbsp;Nivedita Patni MD,&nbsp;Daniel Soffer MD,&nbsp;Sarah Gibbs MPH,&nbsp;Irina Yermilov MD,&nbsp;Eunice Chang PhD,&nbsp;Michael Broder MD,&nbsp;Robert Hegele MD","doi":"10.1016/j.jacl.2024.04.062","DOIUrl":"10.1016/j.jacl.2024.04.062","url":null,"abstract":"<div><h3>Study Funding</h3><p>This study was sponsored by Ionis Pharmaceuticals.</p></div><div><h3>Background/Synopsis</h3><p>Familial chylomicronemia syndrome (FCS) is an ultrarare, inherited disorder caused by impaired lipolysis leading to pathological accumulation of chylomicrons with severe hypertriglyceridemia (HTG) and systemic manifestations, the most serious of which is acute pancreatitis. FCS is challenging to manage, with lifelong implications for patients and their care providers. Genetic testing is the standard to confirm diagnosis but is not always feasible. Clinical FCS can be defined as both classical (autosomal recessive monogenic) and functional (signs/symptoms and biochemical traits of classical FCS without the classical variants or indeterminate genetic results). In 2017, European clinicians (Moulin et al.) developed a “FCS score” to differentiate between FCS and multifactorial chylomicronemia syndrome (MCS), a more common condition with some overlapping features. However, the applicability of this scoring system to North American FCS patients is unclear.</p></div><div><h3>Objective/Purpose</h3><p>Develop a clinical diagnostic score for North American practice patterns based on signs/symptoms and biochemical traits of FCS, regardless of genetic testing results.</p></div><div><h3>Methods</h3><p>The panel (9 United States and 1 Canadian physician with experience treating patients with FCS; 1 adult patient with FCS) followed the RAND/UCLA modified Delphi process by reviewing evidence on the diagnosis of FCS and developing 248 clinical scenarios of patients with varying characteristics such as age, triglyceride (TG) levels, and clinical history. Before and after a virtual meeting, panelists rated whether patients described in scenarios were likely to have classical or functional FCS or neither. Median post-meeting ratings were used to conduct linear regression analyses to develop a Clinical FCS Score. We assessed the score's face validity by totaling the Clinical FCS Score for each scenario and are calculating its sensitivity and specificity in a registry of patients.</p></div><div><h3>Results</h3><p>The final FCS score included age, HTG onset, body mass index, history of abdominal pain/pancreatitis, presence of secondary factors contributing to HTG, TG levels, ratio of TG/total cholesterol, and apolipoprotein B level (Figure). Experts agreed that scores ≥60 could be considered “Clinical FCS.”</p></div><div><h3>Conclusions</h3><p>We developed the first North American Clinical FCS Score that used a combination of signs/symptoms and biochemical traits. This score may aid clinicians in diagnosing patients with FCS who might otherwise be undiagnosed or misdiagnosed<strong>.</strong></p></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"18 4","pages":"Page e536"},"PeriodicalIF":3.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141842481","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Development of the Family Heart Foundation™ Flag, Identify, Network, Deliver—Familial Hypercholesterolemia (FIND-FH™) Implementation Toolkit","authors":"Diane MacDougall MS,&nbsp;George Blike MD","doi":"10.1016/j.jacl.2024.04.018","DOIUrl":"10.1016/j.jacl.2024.04.018","url":null,"abstract":"<div><h3>Study Funding</h3><p>Funded in part by AMGEN.</p></div><div><h3>Background/Synopsis</h3><p>Implementation scientists note that best practices often fail to generalize to other settings because of differences in culture, expertise, and infrastructure. Over 18 months, five healthcare systems and a team of patients with FH participated in a Family Heart Foundation (FHF) led collaborative learning network (CLN) with the aim to improve Familial Hypercholesterolemia (FH) diagnosis and care.</p></div><div><h3>Objective/Purpose</h3><p>To share best practices identified by the FIND-FH CLN to help primary and specialty care clinics improve diagnosis and care of patients with FH. To achieve this objective, we developed a flexible implementation toolkit for clinics to customize to meet their specific needs.</p></div><div><h3>Methods</h3><p>A novel implementation science approach is being used to design a FIND-FH Implementation Toolkit to arm care teams with effective quality improvement strategies. This framework organizes common problems/barriers and best practices identified via literature review, subject matter experts, patients with FH and field experiences at five participating CLN sites. This content is organized into a Problem(s)—General Solution(s)—Specific Solution Option(s) matrix using a multi-step process. CLN participants provide feedback and refinements to the matrix, which is curated by the FHF's implementation science team. A nominal group (expert consensus) technique is being used to assure the Problem—General Solution pairs are complete and a subsequent multi-voting process used to rate the importance of each problem-solution pair. Items with variation in ratings are discussed further and the voting repeated to arrive at consensus. The Specific Solution Option(s) in the toolkit describe: a) Option Details; b) Resource Needs; and c) Advantages/Tradeoffs.</p></div><div><h3>Results</h3><p>The methodology described has been completed for the “FLAG” and “IDENTIFY” steps of the FIND-FH process. 17 common Problems that undermine diagnosis of FH patients by PCPs and specialists, were identified. Up to four General Solutions were defined for each Problem with up to 6 Specific Solution Options for each General Solution. The expert consensus process allowed elimination of problems deemed low importance/impact. (See Supplemental Table 1)</p></div><div><h3>Conclusions</h3><p>Development of an implementation toolkit that provides multiple options to address common problems undermining FH care proved feasible. Next, we will complete the “NETWORK” and “DELIVER” steps of the FIND-FH process and validate the first version of this.</p></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"18 4","pages":"Pages e495-e496"},"PeriodicalIF":3.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141853044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Outcomes And Mortality in Heart Failure And Chronic Kidney Disease Patients Admitted With Non-Variceal Upper Gastrointestinal Bleeding","authors":"Mohamad Hijazi MD,&nbsp;Mhd Kutaiba Albuni MD,&nbsp;Bassel Bitar MD,&nbsp;Godbless Ajenaghughrure MD,&nbsp;Amin Eshghabadi MD,&nbsp;Kamal Shemisa MD,&nbsp;Fayaz Khan MD,&nbsp;M Kenan Rahima MD","doi":"10.1016/j.jacl.2024.04.050","DOIUrl":"10.1016/j.jacl.2024.04.050","url":null,"abstract":"<div><h3>Background/Synopsis</h3><p>Chronic kidney disease (CKD) is a major risk factor for cardiovascular disease. Non-variceal upper gastrointestinal bleeding (NVUGIB) can be associated with various medical conditions, including heart failure (HF) and CKD. CKD and HF has been shown to further increase cardiovascular risks.</p></div><div><h3>Objective/Purpose</h3><p>Nevertheless, there is limited scientific evidence of clinical outcomes of NVUGIB in patients with CKD &amp; HF. Hence, we sought to investigate this population.</p></div><div><h3>Methods</h3><p>We queried National Inpatient Sample between 2017-2020 for adult patients who were hospitalized with NVUGIB and had CKD &amp; HF. The primary outcome was inpatient mortality. The secondary outcomes were cardiogenic shock, cardiac arrest, acute kidney injury (AKI), intubation, length of stay (LOS) and total hospital charge. Multivariable logistic regression analysis was used to estimate clinical outcomes. P-value &lt; 0.05 was significant.</p></div><div><h3>Results</h3><p>There were 3,349,779 hospitalizations with NVUGIB and 459,980 (13.7%) had CKD &amp; HF. HF &amp; CKD and non-HF &amp; CKD cohorts were with mean age of 74 vs. 66 yrs; males 46.9% vs 53.1%; Caucasians 63.5% vs 66.6%; HTN 8% vs 39%; dyslipidemia 53.3% vs 37.2%; PE 3.9% vs 4.9%; DM 56% vs 30.4%; AF 24.4% vs 23.5%; obesity 19.5% vs 13.3%; AF 50.2% vs 21.1%; history of stroke 2.0% both, COPD 33.5% vs 18.4%; alcohol use 3% vs 13.8%, respectively. HF &amp; CKD cohort had significantly higher mortality and worse clinical outcomes (Table 1).</p></div><div><h3>Conclusions</h3><p>HF &amp; CKD cohort demonstrated significantly higher mortality, worse clinical outcomes and resource utilization. Patients were older, obese, female, fewer Caucasians, with more frequent dyslipidemia, DM, AF and COPD. HF &amp; CKD is associated with greater risk for cardiovascular events, renal failure, GIB, and ICU care. HF &amp; CKD is an important predictor of adverse outcomes in NVUGIB population. Further research is necessary to describe long-term outcomes.</p></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"18 4","pages":"Page e520"},"PeriodicalIF":3.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141841264","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Detailed Family History of Premature Atherosclerotic Cardiovascular Disease to Guide Lipoprotein(a) Testing: The Multi-Ethnic Study of Atherosclerosis","authors":"Harpreet Bhatia MD,&nbsp;Zeina Dardari PhD,&nbsp;Anurag Mehta MD,&nbsp;Khurram Nasir MD,&nbsp;Ron Blankstein MD,&nbsp;Ijeoma Isiadinso MD,&nbsp;Arshed Quyyumi MD,&nbsp;Viola Vaccarino MD,&nbsp;Muin Khoury MD,&nbsp;Jonathan Fialkow MD,&nbsp;Fatima Coronado MD,&nbsp;Matthew Budoff MD,&nbsp;Roger Blumenthal MD,&nbsp;Seamus Whelton MD,&nbsp;Martin Mortensen MD,&nbsp;Laurence Sperling MD,&nbsp;Kunihiro Matsushita MD,&nbsp;Michael Blaha MD,&nbsp;Omar Dzaye MD,&nbsp;Alexander Razavi MD","doi":"10.1016/j.jacl.2024.04.006","DOIUrl":"10.1016/j.jacl.2024.04.006","url":null,"abstract":"<div><h3>Background/Synopsis</h3><p>One in five individuals have elevated lipoprotein(a) [Lp(a)], an inherited risk factor for atherosclerotic cardiovascular disease (ASCVD). However, there is no clear consensus involving the appropriate testing criteria for Lp(a), specifically related to the role of a detailed family history of premature ASCVD for guidance.</p></div><div><h3>Objective/Purpose</h3><p>To assess the independent association between a detailed family history of premature ASCVD and Lp(a).</p></div><div><h3>Methods</h3><p>We studied 4,244 participants from the Multi-Ethnic Study of Atherosclerosis who had measures of Lp(a) (Visit 1) and completed detailed family history questionnaires (Visit 2). Family history of premature ASCVD (&lt;55 years old in men, &lt;65 years old in women) was defined as any myocardial infarction or stroke in a first-degree relative (mother, father, sibling). A combined family history of premature ASCVD score (0, 1, &gt;2 first-degree relatives) was constructed. Modified Poisson regression modeling calculated prevalence ratios (PR) for Lp(a) &gt;50 mg/dL according to family history of premature ASCVD after adjusting for age, sex, race/ethnicity, health insurance status, estimated glomerular filtration rate, and lipid-lowering medications.</p></div><div><h3>Results</h3><p>The mean age of participants was 61.7 years old, 52% were women, 28% were Black, and the median Lp(a) was 18 mg/dL (Q1: 8, Q3: 40). One in five individuals (21%) reported a family history of premature ASCVD, but the proportion of individuals who reported two or more first-degree relatives affected by premature ASCVD was two-fold higher among those with Lp(a) &gt;50 versus &lt;50 (4% versus 2%, p=0.003). There was a stepwise increment of Lp(a) and greater prevalence of Lp(a) &gt;50 as the number of reported family members with premature ASCVD increased (Figure). In multivariable analyses considering individuals without a family history of premature ASCVD as reference, there was no significantly higher prevalence of Lp(a) &gt;50 for individuals reporting one family member with premature ASCVD (PR=1.05, 95% CI: 0.90-1.22), though persons who had two or more family members affected by premature ASCVD had a 38% higher prevalence of Lp(a) &gt;50 (PR=1.38, 95% CI: 1.03-1.84).</p></div><div><h3>Conclusions</h3><p>Consideration of an ordinal family history of premature ASCVD score may help to better identify those most likely to have elevated Lp(a) compared to current binary family history questionnaires. Detailed documentation involving family history of premature ASCVD may facilitate targeted use of Lp(a)-specific risk assessment in clinical practice.</p></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"18 4","pages":"Pages e486-e487"},"PeriodicalIF":3.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141842965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ASCVD Risk Reduction in Patients with Immune-Mediated Inflammatory Disease: A Retrospective Quality Assessment Study","authors":"Nasser Monzer MD,&nbsp;Emma MacAllister CRNP,&nbsp;Archna Bajaj MD,&nbsp;Daniel Soffer MD,&nbsp;Douglas Jacoby MD,&nbsp;Srinivas Denduluri PhD,&nbsp;Deepak Vedamurthy MD","doi":"10.1016/j.jacl.2024.04.039","DOIUrl":"10.1016/j.jacl.2024.04.039","url":null,"abstract":"<div><h3>Background/Synopsis</h3><p>Patients with inflammatory immune-mediated disease (IMID) face a heightened risk of atherosclerotic cardiovascular disease (ASCVD). Current guidelines (2018, Grundy et al.) suggest considering a moderate-intensity statin for primary prevention if the 10-year ASCVD risk exceeds 5% in the presence of risk enhancers like IMID (Class IIb recommendation). However, many patients with IMID are undertreated with lipid-lowering therapies (LLT) as traditional ASCVD risk calculators often overlook this enhanced ASCVD risk. The 2022 ACC Expert Consensus decision pathway recommends a target LDL-C of at least 100 mg/dL and preferably less than 70 mg/dL for higher-risk patients for primary prevention. An LDL-C of less than 55 mg/dL is optimal for secondary ASCVD prevention.</p></div><div><h3>Objective/Purpose</h3><p>Identify the proportion of patients with IMID at our institution who meet criteria to start LLT (defined as ASCVD risk greater than 5% in the presence of risk enhancers or history of clinical ASCVD), proportion of such patients who are prescribed LLT, and the proportion of patients who meet goal LDL-C for primary and secondary prevention of ASCVD. Additionally, we sought to identify what proportion of those patients underwent coronary artery calcium scoring (CACS) and/or measurement of carotid intima-media thickness (CIMT) to guide decision-making in ASCVD risk management.</p></div><div><h3>Methods</h3><p>This is a retrospective quality assessment study using data from the Penn Medicine electronic medical records. Patients between 40 and 75 years of age, attending Rheumatology and Dermatology clinics during the calendar year 2022, with the following diagnoses were included: psoriasis, rheumatoid arthritis, systemic lupus erythematosus, gout, vasculitis, systemic sclerosis, antiphospholipid syndrome, mixed connective tissue disease, myositis. Patients with missing covariates to calculate the ASCVD risk score and study outcomes were excluded.</p></div><div><h3>Results</h3><p>1,907 patients were identified, 29% of which had clinical ASCVD. 69% (1,321) were eligible for LLT. 53% (702) of eligible patients were prescribed LLT, while 47% were not. Among patients who met criteria for LLT, 58% had their most recent LDL-C under 100 mg/dL, while 33% had their most recent LDL-C less than 70 mg/dL. 16% of patients with clinical ASCVD had their most recent LDL-C level less than 55 mg/dL. CACS or CIMT was performed on 10% of our cohort.</p></div><div><h3>Conclusions</h3><p>This study supports our hypothesis that ASCVD risk management in patients with IMID is suboptimal. With advances in subclinical atherosclerosis imaging and newer non-statin therapies, there is potential to improve cardiovascular outcomes in patients with IMID. Further studies are needed to bridge the management gaps in this patient population.</p></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"18 4","pages":"Pages e510-e511"},"PeriodicalIF":3.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141844737","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Familial Hypercholesterolemia Cascade: On the Road to Universal Screening","authors":"Matthew Proute MBBS,&nbsp;Nosagie Ohonba MBBS,&nbsp;Jeffery Feldman MD,&nbsp;Robert Fishberg MD,&nbsp;Tiffany Haynes MD","doi":"10.1016/j.jacl.2024.04.071","DOIUrl":"10.1016/j.jacl.2024.04.071","url":null,"abstract":"<div><h3>Background/Synopsis</h3><p>The Atlantic Medical Group Lipid Workgroup at Atlantic Health System is composed of both adult and pediatric cardiologists, internists, endocrinologists and nephrologists. The goal of the workgroup is to address the need for optimal cardiometabolic diagnosis and treatment. Because familial hypercholesterolemia (FH) is dominantly inherited, cascade screening of family members can be highly effective.</p></div><div><h3>Objective/Purpose</h3><p>To highlight the benefits of collaboration of adult and pediatric specialties for the diagnosis and treatment of FH.</p></div><div><h3>Methods</h3><p>38-year-old female with a strong family history of early CAD, very high cholesterol levels and xanthelasmas presented to us to establish care. Her two children were diagnosed genetically with FH at age 3 and 6 with cholesterol levels of 269 mg/dL and &gt; 400 mg/dL, respectively. She was initiated on treatment with a statin. Her twin sister was also evaluated and found to have high cholesterol levels and xanthelasmas. This sister's children were also suspected of having FH and were referred to a pediatric cardiologist for diagnosis and treatment.</p></div><div><h3>Results</h3><p>The children of the index patient were found to be heterozygous for deletion (exon17-18) LDLR gene, pathologic for FH.</p></div><div><h3>Conclusions</h3><p>The collaborative efforts of adult and pediatric specialists make the Atlantic Medical Group Lipid workgroup unique. Through this program, cascade and reverse cascade screening is utilized to identify and diagnose individuals at risk for familial hypercholesterolemia. Identification of an index patient with FH with effective screening of relatives combines the benefits of universal and cascade screening and has the potential of detecting all living cases of FH. Basseling et al found that although capable of identifying asymptomatic individuals with hypercholesterolemia, the cost effectiveness of universal screening has not yet been determined and cascade screening has proven to be more cost effective than any other screening strategy currently available thus far.</p></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"18 4","pages":"Pages e542-e543"},"PeriodicalIF":3.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141846136","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cascade screening for familial hypercholesterolemia from pediatric index cases diagnosed through universal screening","authors":"","doi":"10.1016/j.jacl.2024.04.127","DOIUrl":"10.1016/j.jacl.2024.04.127","url":null,"abstract":"<div><p>Heterozygous familial hypercholesterolemia (HeFH) is an autosomal dominant disorder causing elevated low density lipoprotein cholesterol (LDL-C) and premature atherosclerotic cardiovascular disease. Universal cholesterol screening in childhood leads to children serving as the index case for their family, but efficacy of cascade screening and genetic counseling in this population is not well understood. The institutional pediatric lipid clinic database was queried from 2011 to 2022 for subjects &lt;18 years who met clinical HeFH diagnostic criteria (<em>N</em> = 256). Median peak LDL-C was 198 mg/dL (interquartile range 179–238 mg/dL) and 69.5 % of subjects were the index case. The number of new HeFH cases identified per index case was 3.55 ± 1.87. Genetic counseling was offered to 38.7 % of subjects and genetic testing was completed by 10.9 %, 53.6 % of whom had a pathogenic or likely pathogenic genetic variant for HeFH. Our findings highlight the effectiveness of cascade screening from pediatric index cases identified through universal screening. However, genetic counseling and genetic testing may be underutilized in this population.</p></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"18 4","pages":"Pages e620-e624"},"PeriodicalIF":3.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140763636","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"High carrier frequency for abetalipoproteinemia and evidence of a founder variant in a French-Canadian population","authors":"","doi":"10.1016/j.jacl.2024.04.132","DOIUrl":"10.1016/j.jacl.2024.04.132","url":null,"abstract":"<div><p><span>Abetalipoproteinemia (ABL) is a rare recessive genetic disease caused by bi-allelic pathogenic variants in the microsomal triglyceride transfer protein (</span><em>MTTP</em>) gene. This disease is characterized by a deficiency in the secretion of apolipoprotein B-containing lipoproteins. Patients with ABL present with neurological, hematological, and gastrointestinal symptoms due to fat malabsorption and a deficiency in liposoluble vitamins. In this report, we present a total of four ABL cases, including three new cases, all originating from the same French-Canadian founder population in Saguenay-Lac-Saint-Jean, Québec, Canada. These individuals are homozygous for the same pathogenic variant in the <em>MTTP</em> gene (c.419dup, p.Asn140Lysfs*2). We found that this variant is more common than anticipated in this population, with an estimated carrier frequency of 1:203. Early diagnosis is essential to initiate treatment known to prevent complications associated with ABL. Population carrier screening or newborn screening for ABL should be considered in this French-Canadian founder population.</p></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"18 4","pages":"Pages e625-e630"},"PeriodicalIF":3.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140933943","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comparative Assessment of hsCRP and Apolipoprotein B as ASCVD Risk Biomarkers","authors":"Saheed Amusat BMLS (Hons)","doi":"10.1016/j.jacl.2024.04.023","DOIUrl":"10.1016/j.jacl.2024.04.023","url":null,"abstract":"<div><h3>Background/Synopsis</h3><p>According to the American Heart Association, the accumulation of plaque in the walls of arteries is identified as the primary cause of atherosclerotic cardiovascular disease (ASCVD). Currently, ASCVD-related conditions remain the leading cause of morbidity and mortality globally. Apolipoprotein B has been identified as a more precise cardiovascular risk marker than LDL-C, while hsCRP has shown potential as a cardiovascular disease indicator. This study aims to investigate the diagnostic performance and routine screening cut-off of hsCRP for early atherosclerosis vascular diseases (ASCVD) risk in adult patients, comparing it with Apo B.</p></div><div><h3>Objective/Purpose</h3><p>To compare the diagnostic performance of high-sensitivity C-reactive protein (hsCRP) with apolipoprotein B in assessing ASCVD risk.</p></div><div><h3>Methods</h3><p>A sample of 494 individuals from the NHANES 2015-2016 laboratory dataset, with a mean age greater than 17 years, was used for this study. ASCVD risk was measured by non-HDL-C, categorized into low and high risk based on the Mayo Clinic reference range. Predictors included Apo B, and hs-CRP. Binomial logistic regression and ROC curve analyses were conducted using the generalised linear models and pROC packages in RStudio IDE. Hypotheses were validated at p≤0.05, and diagnostic performance metrics such as ROC AUC, sensitivity, and specificity were measured on a scale of 0-1.</p></div><div><h3>Results</h3><p>The findings revealed that for every 1g/L increase in apo B concentration, the odds of high ASCVD risk were approximately 3.8 × 1011 times higher. Additionally, the model indicated that the odds of high ASCVD risk were 1.03 times higher for every 1mg/L increase in hsCRP concentration. However, this indicate that hsCRP level was not associated with odds of ASCVD risk. The ROC AUC for apo B and hsCRP were approximately 0.9739 and 0.6165, respectively, with cut-off values (sensitivity, specificity) of approximately 0.9g/L (0.927, 0.897) and 2.4 mg/L (0.596, 0.601), respectively. Thus, levels above these thresholds for both apo B and hsCRP are associated with high ASCVD risk.</p></div><div><h3>Conclusions</h3><p>The study demonstrates that apo B exhibits high discriminatory and diagnostic accuracy, making it a suitable ASCVD risk biomarker compared to hsCRP. While hsCRP shows moderate diagnostic accuracy, it is not sufficient as a standalone ASCVD risk diagnostic marker. Therefore, apo B could serve as a replacement for LDL-C, while hsCRP could possibly serve as an add-on test in ASCVD risk assessment.</p></div>","PeriodicalId":15392,"journal":{"name":"Journal of clinical lipidology","volume":"18 4","pages":"Page e499"},"PeriodicalIF":3.6,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141952462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}