Awareness Of Familial Hypercholesterolemia Research Articles

Unexpected gaps in knowledge of familial hypercholesterolaemia among Dutch general practitioners.

Familial hypercholesterolaemia (FH) warrants early diagnosis to prevent premature atherosclerotic cardiovascular disease (CVD). However, underdiagnosis and undertreatment of FH persist. This study aimed to assess the knowledge and practice of FH care among general practitioners (GPs) in the Netherlands. An internationally standardised, online questionnaire was sent to Dutch GPs between February 2021 and July 2022. The survey assessed knowledge and awareness of FH, encompassing general familiarity, awareness of management guidelines, inheritance, prevalence, CVD risk, and clinical practice related to FH. Comparative analysis was performed using data on primary care physicians from Western Australia, the Asia-Pacific region and the United Kingdom. Of the 221 participating GPs, 62.4% rated their familiarity with FH as above average (score > 4 on a1-7 scale), with 91.4% considering themselves familiar with FH treatment and referral guidelines. Correct identification of the FH definition, typical lipid profile, inheritance pattern, prevalence and CVD risk was reported by 83.7%, 87.8%, 55.7%, 19.5%, and 13.6% of the respondents, respectively. Of the participants, 58.4% answered fewer than half of the 8 knowledge questions correctly. Dutch GPs reported greater FH familiarity and guideline awareness compared with their international counterparts but exhibited similar low performance on FH knowledge questions. Despite the Netherlands' relatively high FH detection rate, substantial knowledge gaps regarding FH persist among Dutch GPs, mirroring global trends. Enhanced FH education and awareness in primary care are imperative to improve FH detection and ensure adequate treatment. Targeting the global suboptimal understanding of FH might require international efforts.

Familial hypercholesterolemia in China requires greater efforts

Familial hypercholesterolemia in China requires greater efforts

Awareness of familial hypercholesterolaemia in Australian primary care: A qualitative descriptive study.

A lack of public and health professional awareness about familial hypercholesterolaemia (FH) leads to an estimated 90,000 Australians remaining undiagnosed. The aim of this study was to establish the level of knowledge and awareness of FH in Australian general practices. A qualitative descriptive methodology was used to explore baseline knowledge and perceptions of practice staff about diagnosing and managing FH. Overall, 63 interviews were conducted with general practice staff at15 practices taking part in a National Health and Medical Research Council partnership grant study (GNT1142883). Data were analysed thematically and coded into themes- knowledge/awareness/recall, management, useof guidelines/referrals, and contacting family members. Most general practitioners treated the high cholesterol component as their primary focus. Guidelines and referrals were rarely used. This research reflected a lack of knowledge, awareness and use of guidelines similar to that shown in other published studies. Improved primary care infrastructure, knowledge and awareness of FH need to be addressed.

An Implementation Science Framework to Develop a Clinical Decision Support Tool for Familial Hypercholesterolemia.

Electronic health record (EHR)-based clinical decision support (CDS) can address the low awareness and undertreatment of familial hypercholesterolemia (FH), a disorder associated with a markedly increased risk of coronary heart disease. We aimed to incorporate provider perspectives into the development and implementation of a CDS tool for FH. An implementation science framework and a user-centered design process were used to create a CDS tool for FH. Primary care physicians and specialist physicians participated in qualitative interviews, usability testing and an implementation survey. The CDS was configured in two formats—a best practice alert (BPA) and an in-basket message and subsequently deployed in the EHR in silent mode. The key themes that emerged from the analysis of interview transcripts included understanding and awareness of FH, clinical workflow, physician preferences and value of CDS tools, perspectives on patient needs and values and dissemination and implementation. Recommendations related to usability included preferred CDS format and placement, content, timing and frequency, and level of alert urgency/prioritization. In response to the survey, 84.6% of physicians agreed that the CDS would improve early FH diagnosis and 92.3% agreed that it would help them identify and manage FH patients. Physician feedback led to iterative CDS refinement. In summary, we developed a CDS tool for FH using an implementation science framework and physician feedback. Initial deployment revealed a significant burden of FH and the potential for the CDS tool to have a large impact.

P649Validation of clinical diagnostic criteria of familial hypercholesterolemia in Japan: evidence from a comprehensive genetic analysis

Abstract Background Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Japanese clinical diagnostic criteria of FH include LDL cholesterol level ≥180 mg/dl, Achilles tendon thickness (ATT) ≥9.0 mm, and family history of FH or premature coronary disease. Despite FH being a genetic disorder, genetic testing is rarely used, few data exist regarding the validation of those criteria, especially, by studies using comprehensive genetic analyses. Methods This study included 680 subjects (344 men, mean LDL cholesterol = 175 mg/dl) who underwent the full assessments for FH, including LDL cholesterol measurement, Achilles tendon X-ray, investigations for family history, and comprehensive genetic analyses on FH-associated genes (LDL receptor, PCSK9, APOB, and LDLRAP1) in our University Hospital since 2006 to 2018. The area under curve (AUCs) of receiver-operating characteristic (ROC) curve analyses predicting FH-mutation positive were compared among those determined by each component. Results ROC analyses revealed the optimal cutoff LDL cholesterol value for predicting the presence of FH-mutation was 181 mg/dl, and that of ATT was ≥7.0 mm. AUCs of each component (ATT, LDL cholesterol, and family history) were 0.827, 0.889, and 0.906, respectively, and the combination of all components increased it to 0.975. When adopting ATT ≥7.0 mm as one of the clinical diagnostic criteria, 13 individuals (2%) were newly classified as true-FH, whereas, 27 (4%) individuals were newly misclassified as FH. Conclusion The current Japanese clinical diagnostic criteria of FH were pretty well validated in our independent cohort. However, the threshold of ATT could be lowered to 7.0 mm to raise the sensitivity of its criteria.

Awareness of Familial Hypercholesterolemia Among Healthcare Providers Involved in the Management of Acute Coronary Syndrome in Victoria, Australia

BackgroundFamilial hypercholesterolemia (FH) is a common underdiagnosed autosomal dominant lipid disorder carrying a significant risk of premature coronary artery disease. The aim of this study was to evaluate the awareness and knowledge of heterozygous FH of healthcare providers in coronary care units (CCUs). MethodsMedical staff working in CCUs in 4 sizable metropolitan health networks in Melbourne, Australia, were requested to complete a structured anonymised questionnaire with regard to FH. The results were tabulated and analysed with the Statistical Package for the Social Sciences version 23 (IBM, New York, NY). ResultsA total of 121 participants (67% response rate) completed the survey. Some 76% claimed to be at least modestly familiar with FH, and more than half of them adequately described FH; however, only 16% and 43%, respectively, were aware of the prevalence of FH and existence of lipid guidelines. In regard to epidemiological knowledge and update in the management of FH in CCUs, knowledge was suboptimal. In regard to FH care, General Practitioners were rated by 72% of participants as the first most efficient healthcare provider in the management of FH, and cardiologists were rated by 54% of participants as the second most efficient healthcare provider in the management of FH. Some 36% of respondents advocated a form of alert system in laboratory reports to facilitate the diagnosis of FH. ConclusionsThis survey identified substantial gaps in the knowledge and awareness of FH among healthcare providers involved in the management of acute coronary syndrome. Focused education and clinical training are warranted to raise awareness of FH among healthcare providers working in CCUs.

VALIDATION OF CLINICAL DIAGNOSTIC CRITERIA OF FAMILIAL HYPERCHOLESTEROLEMIA IN JAPAN: EVIDENCE FROM A COMPREHENSIVE GENETIC ANALYSIS

Although awareness of familial hypercholesterolemia (FH) is increasing, this common, potentially fatal, treatable condition remains underdiagnosed. Japanese clinical diagnostic criteria of FH include LDL cholesterol level ≥ 180 mg/dl, Achilles tendon thickness (ATT) ≥ 9.0 mm, and family history

Knowledge and Awareness of Familial Hypercholesterolaemia among Registered Medical Practitioners in Tamil Nadu: Are They Suboptimal?

Familial Hypercholesterolaemia (FH) is the most common monogenic disorder causing premature Coronary Artery Disease (CAD). However, the majority of people with FH are undiagnosed and under treated. To determine awareness, knowledge and practices of registered medical practitioners regarding FH in India. Physicians from a southern state of India (Tamil Nadu) who see the general cases were requested to complete a structured online survey questionnaire based on the outcomes on screening, diagnostic and service aspects of FH. A total of 133 physicians were surveyed, 27.9% perceived themselves to have above average familiarity with FH and 71.4% correctly described FH. 41.4% of physicians were unaware and unsure whether they had FH patients under their care. The awareness of specific aspects of FH were as follows: heritability 35.3%, prevalence 31.6%, typical lipid profile 34.6%, CVD relating to FH13.5%, genetic testing 33.1%, cascade screening 41.4%, preventive, management and referral services for FH 12.8%, 49.6% of them thought that the age for screening young people for FH should be 13 to 18 years. 84.2% selected GP's as the most effective health care provider for the early detection and care of FH as being useful. 69.2% selected interpretive commenting on lipid profile to highlight patients at risk of FH. 91.7% and 19.5% of physicians identified statins as monotherapy and statin with ezetimibe as combination therapy for FH, respectively. The study identified substantial deficit in the awareness and knowledge of FH among primary care physicians in Tamil Nadu. Extensive and continuous medical education programs are required to close the gap in coronary prevention.

Significant gaps in awareness of familial hypercholesterolemia among physicians in selected Asia-Pacific countries: a pilot study.

Familial hypercholesterolemia (FH) is a dominantly inherited disorder characterized by high plasma cholesterol levels and a very high risk of early heart disease. The prevalence of FH is estimated to be at least 1:500, with at least 3.6 million individuals in the Asia-Pacific region. To assess awareness, knowledge, and perception of FH among practicing physicians in Japan, South Korea, and Taiwan. Physicians from 3 economically developed Asian countries were requested to anonymously complete a structured Internet-based survey regarding FH. This survey sought responses on the clinical description, inheritance, prevalence, cardiovascular disease risk, practices, and opinions on screening. Of 230 physicians surveyed, 47% were aware of the heritability, 27% of the prevalence, and 13% of the risk of cardiovascular disease relating to FH. The majority (70%) perceived themselves to have an above-moderate familiarity with FH. Primary care physicians (59%) and lipid specialists (41%) were perceived as the best providers for caring for FH, including cascade screening services, with a lesser role perceived for cardiologists, endocrinologists, and no significant role for nursing staff. Only 35% of physicians were aware of specialist clinical services for lipid disorders in their geographic area. Extensive education and training programs are required to complement the implementation of region-specific models of care for FH in Asia. Further enhancement of existing lipid services and facilities are also warranted to optimise service models.

Familial hypercholesterolemia: ethical, practical and psychological problems from the perspective of patients

The main aim of the study was to explore the extent to which familial hypercholesterolemia (FH) influences the life of the patients affected. The study employed a qualitative analysis of semi-structured interviews with 23 outpatients who were being treated following a diagnosis of heterozygous FH at a tertiary hospital in Göteborg, Sweden. Some interviewees reported concerns related to their medication and feelings of guilt when not complying with treatment recommendations. However, none of the respondents expressed sustained emotional distress or would have preferred to be ignorant of their diagnosis. Apart from being more observant about food intake, their awareness of FH did not appear to have had a substantial impact on their way of life. In fact, those who did not suffer from any other diseases generally regarded themselves as healthy. Discussing the genetic constitution with family members with whom they had close contact was natural, but informing distant family members was not.