Current Opinion in Endocrinology & Diabetes and Obesity最新文献

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Predictors of cardiovascular risk in familial hypercholesterolemia. 家族性高胆固醇血症心血管风险的预测因素。
IF 2.6 3区 医学
Current Opinion in Endocrinology & Diabetes and Obesity Pub Date : 2024-10-01 Epub Date: 2024-05-08 DOI: 10.1097/MED.0000000000000864
Manuel Jesús Romero-Jiménez, María Elena Mansilla-Rodríguez
{"title":"Predictors of cardiovascular risk in familial hypercholesterolemia.","authors":"Manuel Jesús Romero-Jiménez, María Elena Mansilla-Rodríguez","doi":"10.1097/MED.0000000000000864","DOIUrl":"10.1097/MED.0000000000000864","url":null,"abstract":"<p><strong>Purpose of review: </strong>Familial Hypercholesterolemia is associated with an increased risk of cardiovascular disease. The current international guidelines of the main scientific societies consider that all people with familial hypercholesterolemia have a high or very high cardiovascular risk. However, the occurrence of atherosclerotic cardiovascular disease is very heterogeneous in this population. Stratifying risk within people with familial hypercholesterolemia is essential to identify individuals who require intensive cholesterol-lowering therapies.</p><p><strong>Recent findings: </strong>In the last year, several studies have been published focusing on the contribution of diabetes to familial hypercholesterolemia, the role of stroke, as a manifestation of atherosclerotic disease, and the external validation of the SAFEHEART risk equation in the English population diagnosed with Familial Hypercholesterolemia.</p><p><strong>Summary: </strong>It is necessary the development of a tool that allows us to identify, in a simple, reproducible, and universal way, patients who may have a high risk of suffering a cardiovascular event and who are susceptible to more intensive treatments to reduce cholesterol levels.</p>","PeriodicalId":10964,"journal":{"name":"Current Opinion in Endocrinology & Diabetes and Obesity","volume":" ","pages":"191-196"},"PeriodicalIF":2.6,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140876127","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}
引用次数: 0
Beyond T-Trials, T4DM and TRAVERSE: the next large testosterone randomized controlled trial. 超越 T-Trials、T4DM 和 TRAVERSE:下一个大型睾酮随机对照试验。
IF 3.2 3区 医学
Current Opinion in Endocrinology & Diabetes and Obesity Pub Date : 2024-09-19 DOI: 10.1097/med.0000000000000886
Bu B Yeap,Cammie Tran,Catherine M Douglass,John J McNeil
{"title":"Beyond T-Trials, T4DM and TRAVERSE: the next large testosterone randomized controlled trial.","authors":"Bu B Yeap,Cammie Tran,Catherine M Douglass,John J McNeil","doi":"10.1097/med.0000000000000886","DOIUrl":"https://doi.org/10.1097/med.0000000000000886","url":null,"abstract":"PURPOSE OF REVIEWLower testosterone concentrations have been associated with poorer health outcomes in ageing men, but proving causality and demonstrating potential for therapeutic benefit requires randomized clinical trials (RCTs). This review discusses recent observational findings and results of major testosterone RCTs, to explore the need for another, larger trial.RECENT FINDINGSEvidence of Leydig cell impairment emerges in men above the age of 70 years. Lower testosterone is associated with diabetes risk, and also risk of incident dementia. An individual participant data meta-analysis found that below thresholds of testosterone of 7.4 nmol/L and 5.3 nmol/l respectively, risks of all-cause mortality and cardiovascular deaths in men increased. Testosterone for the Prevention of Type 2 Diabetes Mellitus (T4DM), a multicentre RCT, showed that testosterone treatment prevented or reverted type 2 diabetes in men at high risk. Testosterone Replacement Therapy for Assessment of Long-term Vascular Events and Efficacy Response in Hypogonadal Men (TRAVERSE), a cardiovascular safety trial, demonstrated cardiovascular and prostate safety of testosterone treatment in men with or at risk of cardiovascular disease. T4DM confirmed findings from the Testosterone Trials (T-Trials) that testosterone improved sexual function, and bone microarchitecture and density. However, in TRAVERSE, testosterone-treated men had a higher risk of clinical bone fractures, but not major osteoporotic fractures.SUMMARYMen with disorders of the hypothalamic-pituitary-testicular (HPT) axis causing androgen deficiency warrant consideration for testosterone therapy. In men with an intact HPT axis, testosterone treatment is a pharmacological intervention which requires justification from high quality RCT data. Currently, there is insufficient evidence to justify wider use of testosterone for prevention of cardiometabolic disease. However, there is scope for another large testosterone RCT to investigate whether testosterone treatment might, in older men, extend disability-free survival.","PeriodicalId":10964,"journal":{"name":"Current Opinion in Endocrinology & Diabetes and Obesity","volume":"90 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-09-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142248067","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}
引用次数: 0
Hypoparathyroidism and assisted reproductive technology: considerations while undergoing ovarian hyperstimulation. 甲状旁腺功能减退症与辅助生殖技术:接受卵巢过度刺激时的注意事项。
IF 3.2 3区 医学
Current Opinion in Endocrinology & Diabetes and Obesity Pub Date : 2024-09-18 DOI: 10.1097/med.0000000000000887
Christopher K Arkfeld,Michael Mannstadt,Shruthi Mahalingaiah
{"title":"Hypoparathyroidism and assisted reproductive technology: considerations while undergoing ovarian hyperstimulation.","authors":"Christopher K Arkfeld,Michael Mannstadt,Shruthi Mahalingaiah","doi":"10.1097/med.0000000000000887","DOIUrl":"https://doi.org/10.1097/med.0000000000000887","url":null,"abstract":"PURPOSE OF REVIEWHypoparathyroidism (hypoPTH) is a rare disease that requires diligent adherence to treatment regimens to prevent hypocalcemia but also treatment-induced hypercalcemia and hypercalciuria. The menstrual cycle, pregnancy, and lactation can all impact calcium homeostasis but there is little known regarding the impact of ovarian stimulation. Furthermore, the limited reports suggest no clear association between menstrual phase and calcium balance among those with hypoPTH. With increasing patient utilization of assisted reproductive technology (ART), there is a need for better understanding the care required for patients with hypoparathyroidism pursuing fertility technology.RECENT FINDINGSThere is currently no literature available on patients with hypoparathyroidism and the impact of controlled ovarian stimulation on calcium homeostasis. We present information regarding physiologic changes in pregnancy that impact calcium homeostasis and the first case presentation of a patient with hypoparathyroidism pursuing ART.SUMMARYThis article provides the first insights and guidance when providing fertility care for patients with hypoparathyroidism.","PeriodicalId":10964,"journal":{"name":"Current Opinion in Endocrinology & Diabetes and Obesity","volume":"14 1","pages":""},"PeriodicalIF":3.2,"publicationDate":"2024-09-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142248066","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}
引用次数: 0
Cardiometabolic risk factors in women: what's sauce for the goose is not sauce for the gander. 女性的心脏代谢风险因素:"鹅 "有 "鹅 "的好处,"人 "没有 "人 "的好处。
IF 2.6 3区 医学
Current Opinion in Endocrinology & Diabetes and Obesity Pub Date : 2024-08-28 DOI: 10.1097/MED.0000000000000882
Wann Jia Loh, Gerald F Watts
{"title":"Cardiometabolic risk factors in women: what's sauce for the goose is not sauce for the gander.","authors":"Wann Jia Loh, Gerald F Watts","doi":"10.1097/MED.0000000000000882","DOIUrl":"https://doi.org/10.1097/MED.0000000000000882","url":null,"abstract":"<p><strong>Purpose of review: </strong>The aim of this review was to discuss cardiometabolic risk factors that affect women.</p><p><strong>Recent findings: </strong>Recent calls to action to address cardiometabolic risk factors specific to women relate to increasing evidence of sex-specific differences in patient-related, drug-related, and socio-demographic factors leading to sub-optimal care of women.</p><p><strong>Summary: </strong>Certain aspects of common modifiable cardiovascular risk factors (e.g. smoking, hypertension, dyslipidaemia and diabetes) affect female individuals more adversely. Additionally, there are risk factors or enhancers that particularly affect cardiometabolic health in women [e.g. premature menopause, polycystic ovarian syndrome (PCOS), familial partial lipodystrophy, socio-cultural factors]. Understanding these risk factors may provide insight on how to improve cardiometabolic outcomes in women.</p>","PeriodicalId":10964,"journal":{"name":"Current Opinion in Endocrinology & Diabetes and Obesity","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142105224","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}
引用次数: 0
The use of anabolic agents in the treatment of osteoporosis: a clinical update. 使用同化制剂治疗骨质疏松症:临床更新。
IF 2.6 3区 医学
Current Opinion in Endocrinology & Diabetes and Obesity Pub Date : 2024-08-01 Epub Date: 2024-05-16 DOI: 10.1097/MED.0000000000000867
Charles A Inderjeeth, Diren C Inderjeeth
{"title":"The use of anabolic agents in the treatment of osteoporosis: a clinical update.","authors":"Charles A Inderjeeth, Diren C Inderjeeth","doi":"10.1097/MED.0000000000000867","DOIUrl":"10.1097/MED.0000000000000867","url":null,"abstract":"<p><strong>Purpose of review: </strong>Anabolic therapies have revolutionized the management of patients with osteoporosis, especially those at very high fracture risk. The current review offers valuable insights into the latest evidence and guidelines on the use of anabolic agents, focusing on their comparative efficacy, safety profiles, and optimal implementation in clinical practice.</p><p><strong>Recent findings: </strong>Romosozumab, abaloparatide, and teriparatide have shown superior efficacy when compared to antiresorptive therapies in increasing bone mineral density and reducing fracture risk. Notably, sequential treatment strategies, commencing with an anabolic agent followed by an antiresorptive, has emerged as an effective approach for both rapid and sustained reduction of fracture risk in patients at high risk. Additionally, anabolics have shown potential in improving outcomes for patients who have a suboptimal response to antiresorptives. Careful patient selection and vigilant monitoring are essential to optimize therapeutic benefits while mitigating the potential risks. As we gain more clinical experience with these agents, we will better understand how to use them effectively, as part of long term, sequential treatment strategies. Ongoing research into novel anabolic therapies and innovative treatment sequences holds promise for expanding our toolkit against fragility fractures.</p><p><strong>Summary: </strong>Integrating anabolic agents into personalized treatment plans has the potential to significantly improve outcomes and quality of life for patients with severe osteoporosis, highlighting the importance of this therapeutic class in the management of this chronic condition.</p>","PeriodicalId":10964,"journal":{"name":"Current Opinion in Endocrinology & Diabetes and Obesity","volume":" ","pages":"157-163"},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140944522","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}
引用次数: 0
Update on fracture risk assessment in osteoporosis. 骨质疏松症骨折风险评估的最新进展。
IF 2.6 3区 医学
Current Opinion in Endocrinology & Diabetes and Obesity Pub Date : 2024-08-01 Epub Date: 2024-05-29 DOI: 10.1097/MED.0000000000000871
Eugene McCloskey, Andre T H Tan, Marian Schini
{"title":"Update on fracture risk assessment in osteoporosis.","authors":"Eugene McCloskey, Andre T H Tan, Marian Schini","doi":"10.1097/MED.0000000000000871","DOIUrl":"10.1097/MED.0000000000000871","url":null,"abstract":"<p><strong>Purpose of review: </strong>The assessment of fracture risk is playing an ever-increasing role in osteoporosis clinical management and informing international guidelines for osteoporosis. FRAX, a fracture risk calculator that provides individualized 10-year probabilities of hip and major osteoporotic fracture, has been widely used since 2008. In this review, we recap the development and limitations of intervention thresholds and the role of absolute fracture risk.</p><p><strong>Recent findings: </strong>There is an increasing awareness of disparities and inequities in the setting of intervention thresholds in osteoporosis. The limitations of the simple use of prior fracture or the DXA-derived BMD T -score threshold are increasingly being discussed; one solution is to use fracture risk or probabilities in the setting of such thresholds. This approach also permits more objective assessment of high and very high fracture risk to enable physicians to make choices not just about the need to treat but what agents to use in individual patients.</p><p><strong>Summary: </strong>Like all clinical tools, FRAX has limitations that need to be considered, but the use of fracture risk in deciding who to treat, when to treat and what agent to use is a mechanism to target treatment equitably to those at an increased risk of fracture.</p>","PeriodicalId":10964,"journal":{"name":"Current Opinion in Endocrinology & Diabetes and Obesity","volume":" ","pages":"141-148"},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141160888","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}
引用次数: 0
Hypoparathyroidism update. 甲状旁腺功能减退症的最新进展
IF 2.6 3区 医学
Current Opinion in Endocrinology & Diabetes and Obesity Pub Date : 2024-08-01 Epub Date: 2024-05-16 DOI: 10.1097/MED.0000000000000868
Cherie Chiang
{"title":"Hypoparathyroidism update.","authors":"Cherie Chiang","doi":"10.1097/MED.0000000000000868","DOIUrl":"10.1097/MED.0000000000000868","url":null,"abstract":"<p><strong>Purpose of review: </strong>Since the release of the 2022 Second International Workshop Evaluation and Management of Hypoparathyroidism Summary Statement and Guidelines, updates and advances are now available in the cause, complications, and treatment of adult chronic hypoparathyroidism (hypoPTH). This review aims to highlight these new findings and implications to patient care.</p><p><strong>Recent findings: </strong>Postsurgical hypoparathyroidism remains the most common cause, immune-related hypoparathyroidism from checkpoint inhibitors is an emerging autoimmune cause. In a large retrospective cohort study of thyroidectomies, incident fracture was lower, particularly in the vertebra, in the hypoPTH cohort, compared with postthyroidectomy control group. Hypercalciuria increases risk for renal calculi in hypoPTH independent of disease duration and treatment dose. Quality of life is impaired in hypoPTH patients on conventional therapy, improvement was noted post-PTH replacement. TranCon PTH phase 3 RCT reported eucalcemia with reduced renal calcium excretion, normalization of bone turn-over markers, stable BMD and improved quality of life.</p><p><strong>Summary: </strong>HypoPTH is a chronic disease associated with significant morbidity and poor Quality of Life. Awareness of treatment targets and follow-up investigations can alleviate patient anxiety regarding over-treatment and under-treatment. Progress in long-acting PTH replacement strategies might provide accessible, feasible alternatives to conventional therapy in brittle hypoPTH patients.</p>","PeriodicalId":10964,"journal":{"name":"Current Opinion in Endocrinology & Diabetes and Obesity","volume":" ","pages":"164-169"},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141064553","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}
引用次数: 0
Insight into the potential of bone turnover biomarkers: integration in the management of osteoporosis and chronic kidney disease-associated osteoporosis. 洞察骨转换生物标志物的潜力:整合骨质疏松症和慢性肾病相关骨质疏松症的管理。
IF 2.6 3区 医学
Current Opinion in Endocrinology & Diabetes and Obesity Pub Date : 2024-08-01 Epub Date: 2024-05-27 DOI: 10.1097/MED.0000000000000869
Pauline Brouwers, Antoine Bouquegneau, Etienne Cavalier
{"title":"Insight into the potential of bone turnover biomarkers: integration in the management of osteoporosis and chronic kidney disease-associated osteoporosis.","authors":"Pauline Brouwers, Antoine Bouquegneau, Etienne Cavalier","doi":"10.1097/MED.0000000000000869","DOIUrl":"10.1097/MED.0000000000000869","url":null,"abstract":"<p><strong>Purpose of review: </strong>Disturbances in mineral and bone metabolism occurring in osteoporosis and chronic kidney disease-associated osteoporosis place patients at high risk of fracture making these conditions a major public health concern. Due to the limited use of bone histomorphometry in clinical practice, the gold standard for assessing bone turnover, extensive efforts have been made to identify bone turnover markers (BTMs) as noninvasive surrogates. Since the identification of certain commonly used markers several decades ago, considerable experience has been acquired regarding their clinical utility in such bone disorders.</p><p><strong>Recent findings: </strong>Mounting evidence suggested that BTMs represent a simple, low-risk, rapid and convenient way to obtain data on the skeletal health and that they may be useful in guiding therapeutic choices and monitoring the response to treatment.</p><p><strong>Summary: </strong>BTMs could provide clinicians with useful information, independent from, and often complementary to bone mineral density (BMD) measurements. They have proven valuable for monitoring the effectiveness of osteoporosis therapy, as well as promising for discriminating low and high turnover states. Improved performance is observed when BTMs are combined, which may be useful for selecting treatments for chronic kidney disease-bone mineral disorders (CKD-MBD).</p>","PeriodicalId":10964,"journal":{"name":"Current Opinion in Endocrinology & Diabetes and Obesity","volume":" ","pages":"149-156"},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141158139","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}
引用次数: 0
Recent advances in fibroblast growth factor 23-related hypophosphatemic disorders. 成纤维细胞生长因子 23 相关低磷血症的最新进展。
IF 2.6 3区 医学
Current Opinion in Endocrinology & Diabetes and Obesity Pub Date : 2024-08-01 Epub Date: 2024-04-30 DOI: 10.1097/MED.0000000000000866
Yuichi Takashi, Daiji Kawanami, Seiji Fukumoto
{"title":"Recent advances in fibroblast growth factor 23-related hypophosphatemic disorders.","authors":"Yuichi Takashi, Daiji Kawanami, Seiji Fukumoto","doi":"10.1097/MED.0000000000000866","DOIUrl":"10.1097/MED.0000000000000866","url":null,"abstract":"<p><strong>Purpose of review: </strong>Fibroblast growth factor 23 (FGF23) is a hormone to reduce blood phosphate concentration. Excessive actions of FGF23 induce FGF23-related hypophosphatemic disorders, such as X-linked hypophosphatemic rickets (XLH) and tumor-induced osteomalacia (TIO). We will summarize recent advances in the diagnosis and treatment of FGF23-related hypophosphatemic disorders.</p><p><strong>Recent findings: </strong>The measurement of blood FGF23 is useful to make a diagnosis of FGF23-related hypophosphatemic disorders. It was reported that many patients with FGF23-related hypophosphatemic disorders, especially TIO, were misdiagnosed, therefore, it is necessary to enhance the awareness of these diseases. A novel method to inhibit excessive actions of FGF23 by a human monoclonal antibody for FGF23, burosumab, has been approved in several countries. In more long-term observation than clinical trials, burosumab has also been shown to improve biochemical abnormalities and symptoms of rickets/osteomalacia. Following these advances, several registries and consensus recommendations on FGF23-related hypophosphatemic disorders, especially XLH, have been established in each country or region.</p><p><strong>Summary: </strong>Further long-term effects of burosumab and the precise mechanism of FGF23 overproduction in patients with FGF23-related hypophosphatemic disorders need to be clarified in the future studies.</p>","PeriodicalId":10964,"journal":{"name":"Current Opinion in Endocrinology & Diabetes and Obesity","volume":" ","pages":"170-175"},"PeriodicalIF":2.6,"publicationDate":"2024-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140853015","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}
引用次数: 0
Coronary artery event-free or resilient familial hypercholesterolemia: what's in a name? 冠状动脉无事件或复原性家族性高胆固醇血症:名字里有什么?
IF 2.6 3区 医学
Current Opinion in Endocrinology & Diabetes and Obesity Pub Date : 2024-07-05 DOI: 10.1097/MED.0000000000000874
Seyed Saeed Tamehri Zadeh, Dick C Chan, Pedro Mata, Gerald F Watts
{"title":"Coronary artery event-free or resilient familial hypercholesterolemia: what's in a name?","authors":"Seyed Saeed Tamehri Zadeh, Dick C Chan, Pedro Mata, Gerald F Watts","doi":"10.1097/MED.0000000000000874","DOIUrl":"https://doi.org/10.1097/MED.0000000000000874","url":null,"abstract":"<p><strong>Purpose of review: </strong>Familial hypercholesterolemia (FH) is an autosomal semi-dominant condition, characterized by excessive circulating low-density lipoprotein cholesterol (LDL-C) from birth that substantially accelerates the onset and progression of atherosclerotic cardiovascular disease (ASCVD), classically coronary artery disease (CAD). Elevated plasma LDL-C integrated over time is unequivocally the major determinant of ASCVD in heterozygous FH (HeFH); however, the wide variation in incidence and progression of ASCVD suggests a role for a wide spectrum of risk modifiers. We reviewed recent evidence describing the features of an ASCVD-free entity referred to as resilient FH among patients with HeFH.</p><p><strong>Recent findings: </strong>Compared with nonresilient FH patients, resilient patients are more likely to be female, and have a lower prevalence of ASCVD comorbidities, higher levels of HDL-C and larger HDL particles, as well as a lower level of lipoprotein(a). A lower SAFEHEART risk score is also an independent predictor of resilient FH. Gene expression studies also demonstrate that resilient FH patients are associated with a less atherogenic gene expression profile in relation to HDL metabolism and immune responses, as reflected by higher expression of ABCA1 and ABCG1, and lower expression of STAT2 and STAT3, respectively.</p><p><strong>Summary: </strong>A group of HeFH patients, referred as resilient FH, can survive to advance ages without experiencing any ASCVD events. Several key contributors to the event-fee CAD in HeFH patients have been identified. This could not only improve risk stratification and management for FH but also be of major importance for the general population in primary and secondary prevention. However, resilient FH remains an under-investigated area and requires further research.</p>","PeriodicalId":10964,"journal":{"name":"Current Opinion in Endocrinology & Diabetes and Obesity","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2024-07-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141533936","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}
引用次数: 0
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