Materiały źródłowe

• #1 Familial hypercholesterolemia–epidemiology, diagnosis, and screening – PubMed

  https://pubmed.ncbi.nlm.nih.gov/25612857/

  Familial hypercholesterolemia is among the commonest inherited metabolic disorders and is characterized by severely elevated LDL cholesterol levels. The prevalence of the heterozygous state has been estimated at 1 in 200 to 1 in 500 and of the homozygous state from 1 in 160,000 to 1 in 1,000,000. Three formal diagnostic criteria have been proposed to diagnose FH in practice-MedPed, Simon Broome, and Dutch Lipid Clinic Network. […] The role of genetic testing and cascade screening among families is discussed in this review.

• #2 Epidemiology of familial hypercholesterolaemia: Community and clinical – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30270061/

  Familial hypercholesterolaemia (FH) is a genetic disorder affecting the metabolism of low-density lipoprotein (LDL) particles, leading to high LDL-cholesterol levels maintained over time and higher risk of cardiovascular disease (CVD) early in life. Contemporary studies have challenged prior estimations of FH prevalence and suggest this condition to be more frequent than previously considered, with an overall prevalence rate of 1:200-300 individuals in the general population (1:160,000-300,000 for homozygous FH). […] However, prevalence of FH varies around the world. In part this is due to an artefact of approaches of detection and methods used to diagnose FH (e.g. lack of gold standard for diagnosis of FH, different criteria applied, availability of genetic testing). But also due to intrinsic characteristic of different populations, e.g. higher presence of founder effects or rates of consanguinity. Additionally, results from many regions are lacking and it is estimated that only a small percentage of subjects with FH would have been diagnosed overall. FH entails a significantly higher risk of CVD, reported to be higher than that estimated by conventional risk assessment tools for the general population. This risk is mainly driven by coronary heart disease.

• #3 Epidemiology of familial hypercholesterolaemia: Community and clinical – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30270061/

  Familial hypercholesterolaemia (FH) is a genetic disorder affecting the metabolism of low-density lipoprotein (LDL) particles, leading to high LDL-cholesterol levels maintained over time and higher risk of cardiovascular disease (CVD) early in life. Contemporary studies have challenged prior estimations of FH prevalence and suggest this condition to be more frequent than previously considered, with an overall prevalence rate of 1:200-300 individuals in the general population (1:160,000-300,000 for homozygous FH). […] However, prevalence of FH varies around the world. In part this is due to an artefact of approaches of detection and methods used to diagnose FH (e.g. lack of gold standard for diagnosis of FH, different criteria applied, availability of genetic testing). But also due to intrinsic characteristic of different populations, e.g. higher presence of founder effects or rates of consanguinity. Additionally, results from many regions are lacking and it is estimated that only a small percentage of subjects with FH would have been diagnosed overall. FH entails a significantly higher risk of CVD, reported to be higher than that estimated by conventional risk assessment tools for the general population. This risk is mainly driven by coronary heart disease.

• #4 How Common is Familial Hypercholesterolemia? | Blogs | CDC

  https://blogs.cdc.gov/genomics/2021/01/25/how-common-is-fh/

  Familial Hypercholesterolemia (FH) is a genetic condition that leads to high blood levels of low-density lipoprotein cholesterol, also known as LDL-C or bad cholesterol. […] FH is vastly underdiagnosed, with a majority of diagnoses made only after an individuals first cardiac event. […] Knowing the prevalence of FH can help stakeholders, such as health systems and health departments, plan for expected cases and promote coverage for evidence-based treatments for those with FH. […] Studies have estimated that the prevalence of heterozygous FH is 1 in 250 in the general population, both in the United States and globally. […] A recent meta-analysis by Hu and colleagues found that the global prevalence of heterozygous FH in the general population is closer to 1 in 311. […] The study estimated FH prevalence among individuals with atherosclerotic cardiovascular disease (ASCVD).

• #5

  https://link.springer.com/article/10.1007/s11883-014-0482-5

  Familial hypercholesterolemia is among the commonest inherited metabolic disorders and is characterized by severely elevated LDL cholesterol levels. […] The prevalence of the heterozygous state has been estimated at 1 in 200 to 1 in 500 and of the homozygous state from 1 in 160,000 to 1 in 1,000, 000. […] Three formal diagnostic criteria have been proposed to diagnose FH in practice-MedPed, Simon Broome, and Dutch Lipid Clinic Network. […] The role of genetic testing and cascade screening among families is discussed in this review. […] In a community-based sample of 69,016 participants, the authors found that the prevalence of FH was 1 in 137 (much higher than commonly reported), and less than 50 % of sufferers were on lipid-lowering therapy. […] Authors provide recent estimate of homozygous FH from the Netherlands (1 in 300,000). Of 104, 682 individuals who underwent genetic testing, 49 had homozygous FH-20:20 were true homozygotes, 25 compound heterozygotes, and 4 homozygous for Apo B.

• #6 Orphanet: Homozygous familial hypercholesterolemia

  https://www.orpha.net/en/disease/detail/391665

  The current prevalence estimate of homozygous familial hypercholesterolemia (FH) is approximately 1/315,000 (range 1/100,000-1,000,000) individuals, with a higher prevalence in founder populations (e.g. in the Middle East, Quebec and South Africa). […] Diagnosis is made based on clinical features, the degree of LDL cholesterol elevation, family history, plus DNA sequencing for a definitive diagnosis. […] Genetic counseling should be offered to at-risk couples: 25% of their children will have a normal lipid profile, 50% will have heterozygous FH which will require monitoring and sometimes pharmacotherapy starting at ages 8-10 years, and 25% will have homozygous FH requiring immediate attention. […] Life expectancy without treatment is reduced by three to five decades. With apheresis, patients now survive into their fifth and sixth decades of life, but still can develop clinical end points of severe premature atherosclerotic cardiovascular disease and aortic disease.

• #7

  https://link.springer.com/article/10.1007/s11883-014-0482-5

  Familial hypercholesterolemia is among the commonest inherited metabolic disorders and is characterized by severely elevated LDL cholesterol levels. […] The prevalence of the heterozygous state has been estimated at 1 in 200 to 1 in 500 and of the homozygous state from 1 in 160,000 to 1 in 1,000, 000. […] Three formal diagnostic criteria have been proposed to diagnose FH in practice-MedPed, Simon Broome, and Dutch Lipid Clinic Network. […] The role of genetic testing and cascade screening among families is discussed in this review. […] In a community-based sample of 69,016 participants, the authors found that the prevalence of FH was 1 in 137 (much higher than commonly reported), and less than 50 % of sufferers were on lipid-lowering therapy. […] Authors provide recent estimate of homozygous FH from the Netherlands (1 in 300,000). Of 104, 682 individuals who underwent genetic testing, 49 had homozygous FH-20:20 were true homozygotes, 25 compound heterozygotes, and 4 homozygous for Apo B.

• #8 How Common is Familial Hypercholesterolemia? | Blogs | CDC

  https://blogs.cdc.gov/genomics/2021/01/25/how-common-is-fh/

  Familial Hypercholesterolemia (FH) is a genetic condition that leads to high blood levels of low-density lipoprotein cholesterol, also known as LDL-C or bad cholesterol. […] FH is vastly underdiagnosed, with a majority of diagnoses made only after an individuals first cardiac event. […] Knowing the prevalence of FH can help stakeholders, such as health systems and health departments, plan for expected cases and promote coverage for evidence-based treatments for those with FH. […] Studies have estimated that the prevalence of heterozygous FH is 1 in 250 in the general population, both in the United States and globally. […] A recent meta-analysis by Hu and colleagues found that the global prevalence of heterozygous FH in the general population is closer to 1 in 311. […] The study estimated FH prevalence among individuals with atherosclerotic cardiovascular disease (ASCVD).

• #9 How Common is Familial Hypercholesterolemia? | Blogs | CDC

  https://blogs.cdc.gov/genomics/2021/01/25/how-common-is-fh/

  A diagnosis of FH can inform how a persons care is managed, which can result in better health outcomes. […] A diagnosis of FH can trigger more aggressive or different drug regimens, such as high intensity statins and PCSK9 inhibitors. […] Hu and colleagues estimated that globally only about 1% of the approximately 25 million individuals with FH are diagnosed. […] Reflecting the public health importance of increasing identification of FH in the population, CDC designated cascade screening of relatives of those diagnosed with FH as a tier 1 genomic application. […] Studies have shown that cascade genetic screening for FH is cost effective. […] Whichever approach to early identification of those with FH is taken, with over 1 million people in the United States and 25 million globally with FH and many of them undiagnosed, the public health burden of FH is increasingly clear.

• #10 Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region

  https://www.jstage.jst.go.jp/article/jat/28/5/28_56762/_html/-char/ja

  With half of the worlds population of individuals who are living with FH residents in the Asia Pacific, the time has come to implement systematic and system-wide improvements in the management of this debilitating and life-threatening condition. […] A Call to Action on FH for Asia Pacific: There is an urgent need to improve the diagnosis and management of FH across the Asia Pacific region which can be achieved by engaging healthcare professionals both specialists and generalists in educational programmes which will equip them to play their role in delivering optimal FH management.

• #11 Epidemiology of familial hypercholesterolaemia: Community and clinical – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30270061/

  Familial hypercholesterolaemia (FH) is a genetic disorder affecting the metabolism of low-density lipoprotein (LDL) particles, leading to high LDL-cholesterol levels maintained over time and higher risk of cardiovascular disease (CVD) early in life. Contemporary studies have challenged prior estimations of FH prevalence and suggest this condition to be more frequent than previously considered, with an overall prevalence rate of 1:200-300 individuals in the general population (1:160,000-300,000 for homozygous FH). […] However, prevalence of FH varies around the world. In part this is due to an artefact of approaches of detection and methods used to diagnose FH (e.g. lack of gold standard for diagnosis of FH, different criteria applied, availability of genetic testing). But also due to intrinsic characteristic of different populations, e.g. higher presence of founder effects or rates of consanguinity. Additionally, results from many regions are lacking and it is estimated that only a small percentage of subjects with FH would have been diagnosed overall. FH entails a significantly higher risk of CVD, reported to be higher than that estimated by conventional risk assessment tools for the general population. This risk is mainly driven by coronary heart disease.

• #12 Familial Hypercholesterolemia: The Lipids or the Genes? | Nutrition & Metabolism | Full Text

  https://nutritionandmetabolism.biomedcentral.com/articles/10.1186/1743-7075-8-23

  Familial Hypercholesterolemia (FH) is a common cause of premature cardiovascular disease and is often undiagnosed in young people. […] The prevalence of the severe phenotype has been reported as 1 in a million in the general population, compared to the much more common mild form with a prevalence of 1 in 500. […] The prevalence has been reported to be ten times higher in certain populations with a presumed founder effect, such as the Lebanese, the French Canadians, and the South Afrikaners. […] Failure to diagnose and treat FH leads to increased morbidity and mortality from premature cardiovascular disease. […] Currently, FH can be diagnosed either clinically or genetically. […] The use of genetic terminologies to describe phenotypic presentations of the disease creates confusion in the literature.

• #13 Familial hypercholesterolemia – Wikipedia

  https://en.wikipedia.org/wiki/Familial_hypercholesterolemia

  Cholesterol screening and genetic testing among family members of people with known FH is cost-effective. […] The global prevalence of FH is approximately 10 million people. In most populations studied, heterozygous FH occurs in about 1:250 people, but not all develop symptoms. Homozygous FH occurs in about 1:1,000,000. […] LDLR mutations are more common in certain populations, presumably because of a genetic phenomenon known as the founder effect; they were founded by a small group of individuals, one or several of whom was a carrier of the mutation.

• #14 The Shifting Epidemiology of Hypercholesterolemia | MedPage Today

  https://www.medpagetoday.com/medical-journeys/hypercholesterolemia/110599

  The epidemiology of hypercholesterolemia has been shifting in recent years. […] Familial hypercholesterolemia, one of the most common genetic diseases, affects 1 in 250 individuals as a heterozygous condition and 1 in 300,000 in its more severe homozygous form. Certain populations, such as those with French Canadian, Lebanese, and Afrikaner ancestry, can have a prevalence as high as 1 in 100. […] Familial hypercholesterolemia patients have a higher prevalence of chronic kidney disease, but results are inconsistent about the prevalence of comorbid hypertension and whether diabetes is more common in these patients or not, a systematic review concluded.

• #15 Familial Hypercholesterolemia and Its Current Diagnostics and Treatment Possibilities: A Literature Analysis

  https://www.mdpi.com/1648-9144/58/11/1665

  FH is relatively common in comparison to other genetic disorders, and affects an estimated 20 million people in the world. However, 90% of those patients are underdiagnosed. Prevalence varies according to geographical location and the diagnostic criteria used. Moreover, there is an absence of centralized registries and no agreement on unified diagnostic criteria globally, which makes the evaluation and comparison of FH epidemiology in different countries even more difficult. However, in a recent meta-analysis, the prevalence of FH in Asia was 0.19% (4 studies), in Europe—0.32% (19 studies), and 0.32% in North America (9 studies). In Russia, using the Dutch Lipid Clinic Network criteria, the prevalence of patients with definite or probable heterozygous FH combined was 0.58%. Based on systematic reviews and meta-analyses, the overall prevalence of FH ranges from about 1: 200 to 250 in the heterozygous FH group, and from 1: 100.000 to 160.000 in the homozygous FH group.

• #16 Familial Hypercholesterolemia and Its Current Diagnostics and Treatment Possibilities: A Literature Analysis

  https://www.mdpi.com/1648-9144/58/11/1665

  FH is relatively common in comparison to other genetic disorders, and affects an estimated 20 million people in the world. However, 90% of those patients are underdiagnosed. Prevalence varies according to geographical location and the diagnostic criteria used. Moreover, there is an absence of centralized registries and no agreement on unified diagnostic criteria globally, which makes the evaluation and comparison of FH epidemiology in different countries even more difficult. However, in a recent meta-analysis, the prevalence of FH in Asia was 0.19% (4 studies), in Europe—0.32% (19 studies), and 0.32% in North America (9 studies). In Russia, using the Dutch Lipid Clinic Network criteria, the prevalence of patients with definite or probable heterozygous FH combined was 0.58%. Based on systematic reviews and meta-analyses, the overall prevalence of FH ranges from about 1: 200 to 250 in the heterozygous FH group, and from 1: 100.000 to 160.000 in the homozygous FH group.

• #17 Familial hypercholesterolemia in Southeast and East Asia | Thoracic Key

  https://thoracickey.com/familial-hypercholesterolemia-in-southeast-and-east-asia/

  The performances of different diagnostic criteria (Simon Broome, US MEDPED, and JFHMC) as compared to DLCN were assessed in 755 patients of Malay, Chinese, and Indian descent. […] In a recent meta-analysis, the prevalence of FH in Asia was 1:526 (4 studies, including 2 studies from Japan, 1 study from Korea, 1 study from China). […] Variability in the reported prevalence of FH may be because a variety of diagnostic criteria are used within Asian countries. […] The lack of consensus regarding diagnostic criteria makes it difficult to compare different countries or even healthcare centers within the same country. […] Additionally, in a recent meta-analysis, compared to the general population, the prevalence of FH in Asia was 29-fold higher among those with premature CHD. […] These findings highlight the importance of considering FH in Asian individuals who present with premature CHD. […] These findings highlight the need for increasing awareness of FH in this region.

• #18 Prevalence and factors associated with possible cases of familial hypercholesterolemia in Brazilian adults: a cross-sectional study | Scientific Reports

  https://www.nature.com/articles/s41598-023-47692-7

  This study aimed to estimate the prevalence of possible cases of FH and analyze associated factors in the adult Brazilian population. […] The prevalence of possible cases of FH was 0.96%, higher in women, between 45 and 59 years, white race/skin color and others, less education, people with diabetes, hypertension and total cholesterol310 mg/dL. […] FH affects 1:104 Brazilian adults, these findings contribute to understanding the burden of disease in Brazil. […] The prevalence in the world population varies between 1/2002503 and 1/5001, corresponding to 1434 million cases. […] In Brazil, data from the Longitudinal Study of Adult Health (ELSA-Brazil) estimated that the prevalence of FH was 1 in 263. […] The World Health Organization (WHO) emphasizes that FH is a public health problem and meets the criteria for identifying population-based diseases for early diagnosis and treatment.

• #19 Familial hypercholesterolaemia in UK primary care: a Clinical Practice Research Datalink study of an under-recognised condition | British Journal of General Practice

  https://bjgp.org/content/74/740/e174

  Studies utilising genotyping methods report the prevalence of familial hypercholesterolaemia to be as high as one in 137 of the adult population. […] The estimated familial hypercholesterolaemia prevalence for the UK was 16.4 per 10 000 (95% confidence interval [CI] = 16.0 to 16.9). […] The estimated prevalence of familial hypercholesterolaemia was one in 608 of the population, less than expected from other studies, which may indicate that familial hypercholesterolaemia is under-recognised in UK primary care. […] This study describes the epidemiology, treatment, and lipid profiles of a population with familial hypercholesterolaemia and also estimated the prevalence of familial hypercholesterolaemia in the UK as 16.4 per 10 000 adult population, the equivalent of one patient per 608 population. This figure, based on a formal recorded diagnosis of familial hypercholesterolaemia using the Read code classification, is likely an underestimation, highlighting the need to better diagnose and identify patients in primary care in the UK. […] This suggests that between 50% and 75% of patients with familial hypercholesterolaemia are undiagnosed, or at least not currently coded within the electronic health records of primary care systems.

• #20 Assessing the genetic burden of familial hypercholesterolemia in a large middle eastern biobank | Journal of Translational Medicine | Full Text

  https://translational-medicine.biomedcentral.com/articles/10.1186/s12967-022-03697-w

  A recent census of FH cases in the Arabian Gulf (Kuwait, Oman, Qatar, Saudi Arabia, and the United Arab Emirates) showed 130,693 heterozygous carriers and 87 HoFH cases. […] Notably, the EAS Familial Hypercholesterolemia Studies Collaboration (FHSC) reported 57 FH genetic variants in 17 Middle Eastern and North African countries, while none were identified in Qatar. […] Thus, the identity and prevalence of FH variants in the Qatari population have not been well established. […] We sought to classify the FH status of all QBB participants using the Dutch Lipid Criteria Network (DLCN) criteria (see Methods). We identified eight (0.1%) definite, 41 (0.7%) probable and 334 (5.4%) possible FH individuals; the remaining 5,757 individuals were classified as unlikely FH. Thus, we estimated a prevalence of 0.8% (1:125) for definite or probable FH within the QBB cohort.

• #21 Past, Present, and Future of Familial Hypercholesterolemia Management | Methodist DeBakey Cardiovascular J

  https://journal.houstonmethodist.org/articles/10.14797/mdcvj.887

  Familial hypercholesterolemia (FH) is a monogenic form of severe hypercholesterolemia that, if left untreated, is associated with early onset of atherosclerosis. FH is usually diagnosed by clinical scores that consider hypercholesterolemia, family history of early ASCVD and hypercholesterolemia, and cutaneous stigmata. Family cascade screening is important to identify asymptomatic hypercholesterolemic individuals. FH is highly prevalent, with estimated frequency of approximately 1 affected individual in every ~300 people from the general population. In 2020, two large meta-analyses comprising millions of individuals suggested worldwide estimates of FH prevalence in the general population and in subjects with ASCVD. Both meta-analyses estimated a pooled FH prevalence of 0.32% (corresponding to 1:313 in the study by Beheshti et al. and 1:311 in the study by Hu et al.). The prevalence of FH was 1:31 in those with ischemic heart disease (10-fold higher than the general population), 1:15 in those with premature ischemic heart disease (20-fold higher than the general population), and 1:14 in those with severe hypercholesterolemia. Despite the large number of studies and subjects in these contemporary meta-analyses, data from most other countries are not available, and thus FH prevalence is still unknown in several regions of the world.

• #22 Past, Present, and Future of Familial Hypercholesterolemia Management | Methodist DeBakey Cardiovascular J

  https://journal.houstonmethodist.org/articles/10.14797/mdcvj.887

  Familial hypercholesterolemia (FH) is a monogenic form of severe hypercholesterolemia that, if left untreated, is associated with early onset of atherosclerosis. FH is usually diagnosed by clinical scores that consider hypercholesterolemia, family history of early ASCVD and hypercholesterolemia, and cutaneous stigmata. Family cascade screening is important to identify asymptomatic hypercholesterolemic individuals. FH is highly prevalent, with estimated frequency of approximately 1 affected individual in every ~300 people from the general population. In 2020, two large meta-analyses comprising millions of individuals suggested worldwide estimates of FH prevalence in the general population and in subjects with ASCVD. Both meta-analyses estimated a pooled FH prevalence of 0.32% (corresponding to 1:313 in the study by Beheshti et al. and 1:311 in the study by Hu et al.). The prevalence of FH was 1:31 in those with ischemic heart disease (10-fold higher than the general population), 1:15 in those with premature ischemic heart disease (20-fold higher than the general population), and 1:14 in those with severe hypercholesterolemia. Despite the large number of studies and subjects in these contemporary meta-analyses, data from most other countries are not available, and thus FH prevalence is still unknown in several regions of the world.

• #23 Past, Present, and Future of Familial Hypercholesterolemia Management | Methodist DeBakey Cardiovascular J

  https://journal.houstonmethodist.org/articles/10.14797/mdcvj.887

  Familial hypercholesterolemia (FH) is a monogenic form of severe hypercholesterolemia that, if left untreated, is associated with early onset of atherosclerosis. FH is usually diagnosed by clinical scores that consider hypercholesterolemia, family history of early ASCVD and hypercholesterolemia, and cutaneous stigmata. Family cascade screening is important to identify asymptomatic hypercholesterolemic individuals. FH is highly prevalent, with estimated frequency of approximately 1 affected individual in every ~300 people from the general population. In 2020, two large meta-analyses comprising millions of individuals suggested worldwide estimates of FH prevalence in the general population and in subjects with ASCVD. Both meta-analyses estimated a pooled FH prevalence of 0.32% (corresponding to 1:313 in the study by Beheshti et al. and 1:311 in the study by Hu et al.). The prevalence of FH was 1:31 in those with ischemic heart disease (10-fold higher than the general population), 1:15 in those with premature ischemic heart disease (20-fold higher than the general population), and 1:14 in those with severe hypercholesterolemia. Despite the large number of studies and subjects in these contemporary meta-analyses, data from most other countries are not available, and thus FH prevalence is still unknown in several regions of the world.

• #24 Familial hypercholesterolemia in Southeast and East Asia | Thoracic Key

  https://thoracickey.com/familial-hypercholesterolemia-in-southeast-and-east-asia/

  The performances of different diagnostic criteria (Simon Broome, US MEDPED, and JFHMC) as compared to DLCN were assessed in 755 patients of Malay, Chinese, and Indian descent. […] In a recent meta-analysis, the prevalence of FH in Asia was 1:526 (4 studies, including 2 studies from Japan, 1 study from Korea, 1 study from China). […] Variability in the reported prevalence of FH may be because a variety of diagnostic criteria are used within Asian countries. […] The lack of consensus regarding diagnostic criteria makes it difficult to compare different countries or even healthcare centers within the same country. […] Additionally, in a recent meta-analysis, compared to the general population, the prevalence of FH in Asia was 29-fold higher among those with premature CHD. […] These findings highlight the importance of considering FH in Asian individuals who present with premature CHD. […] These findings highlight the need for increasing awareness of FH in this region.

• #25 How Common is Familial Hypercholesterolemia? | Blogs | CDC

  https://blogs.cdc.gov/genomics/2021/01/25/how-common-is-fh/

  A diagnosis of FH can inform how a persons care is managed, which can result in better health outcomes. […] A diagnosis of FH can trigger more aggressive or different drug regimens, such as high intensity statins and PCSK9 inhibitors. […] Hu and colleagues estimated that globally only about 1% of the approximately 25 million individuals with FH are diagnosed. […] Reflecting the public health importance of increasing identification of FH in the population, CDC designated cascade screening of relatives of those diagnosed with FH as a tier 1 genomic application. […] Studies have shown that cascade genetic screening for FH is cost effective. […] Whichever approach to early identification of those with FH is taken, with over 1 million people in the United States and 25 million globally with FH and many of them undiagnosed, the public health burden of FH is increasingly clear.

• #26 Epidemiology of familial hypercholesterolaemia: Community and clinical – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30270061/

  Familial hypercholesterolaemia (FH) is a genetic disorder affecting the metabolism of low-density lipoprotein (LDL) particles, leading to high LDL-cholesterol levels maintained over time and higher risk of cardiovascular disease (CVD) early in life. Contemporary studies have challenged prior estimations of FH prevalence and suggest this condition to be more frequent than previously considered, with an overall prevalence rate of 1:200-300 individuals in the general population (1:160,000-300,000 for homozygous FH). […] However, prevalence of FH varies around the world. In part this is due to an artefact of approaches of detection and methods used to diagnose FH (e.g. lack of gold standard for diagnosis of FH, different criteria applied, availability of genetic testing). But also due to intrinsic characteristic of different populations, e.g. higher presence of founder effects or rates of consanguinity. Additionally, results from many regions are lacking and it is estimated that only a small percentage of subjects with FH would have been diagnosed overall. FH entails a significantly higher risk of CVD, reported to be higher than that estimated by conventional risk assessment tools for the general population. This risk is mainly driven by coronary heart disease.

• #27 Familial Hypercholesterolemia: Cardiovascular Risk Stratification and Clinical Management

  https://www.acc.org/Latest-in-Cardiology/Articles/2020/06/01/13/54/Familial-Hypercholesterolemia

  Familial hypercholesterolemia (FH) is the most common monogenic disorder, affecting an estimated 1:250 people worldwide. […] Although the prevalence of FH in the general population is substantial, only about 15% to 20% of affected patients receive a formal diagnosis. […] Universal screening at 9-11 years of age for elevated LDL-C is recommended by multiple organizations. […] The FH Foundation recommends genetic testing in patients with definitive or probable FH along with cascade screening of first degree relatives. […] FH is an underdiagnosed yet treatable disorder. Recognizing FH is of utmost importance due to the high risk of premature CAD and major adverse cardiovascular events. […] After diagnosis of an index case, there is a mandate to perform cascade lipid and/or genetic screening of all first-degree relatives.

• #28 Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region

  https://www.jstage.jst.go.jp/article/jat/28/5/28_56762/_html/-char/ja

  In 2019, investigators from the Ten Countries Study invited key opinion leaders from 12 countries or regions to participate in a series of online questionnaires regarding various aspects of FH care. Key findings included the following: Diagnosis rates were estimated to vary from 0.1% in China to 4% in Australia, compared with 10%20% in the United Kingdom. […] The authors concluded that a combination of approaches was required to address current deficits in FH care across the Asia Pacific: government policy relating to FH with associated public funding; improvement of the efficiency of healthcare systems in the diagnosis and management of FH; empowering patients and communities to recognize the importance of managing cholesterol among families with a history of premature coronary disease.

• #29

  https://www.archivesofmedicalscience.com/Prevalence-of-familial-hypercholesterolemia-a-meta-analysis-of-six-large-observational,61973,0,2.html

  Prevalence of familial hypercholesterolemia: a meta-analysis of six large, observational, population-based studies in Poland […] Familial hypercholesterolemia (FH) is a severely underdiagnosed and undertreated genetic disorder. Little is known about regional variation in the prevalence of FH, and information for Central and Eastern Europe (CEE) is scarce. This paper assesses the prevalence of FH and related cardiovascular disease (CVD) risk factors in Poland. […] A total of 37,889 persons aged 20-79 years were included in the analysis. The distribution of DLCN scores was skewed, and there were only 7 cases of definite FH. Prevalence of potential FH was 404/100,000 people (95% CI = 277-531/100,000). Familial hypercholesterolemia was more prevalent in women than in men, and the prevalence was the highest in the age group 45-54 years in men and 55-64 years in women. […] We believe that our study might facilitate the planning of a strategy to manage the disease at a population level, i.e. to develop a national strategy for the detection, diagnosis, and treatment of FH.

• #30 Familial hypercholesterolemia–epidemiology, diagnosis, and screening – PubMed

  https://pubmed.ncbi.nlm.nih.gov/25612857/

  Familial hypercholesterolemia is among the commonest inherited metabolic disorders and is characterized by severely elevated LDL cholesterol levels. The prevalence of the heterozygous state has been estimated at 1 in 200 to 1 in 500 and of the homozygous state from 1 in 160,000 to 1 in 1,000,000. Three formal diagnostic criteria have been proposed to diagnose FH in practice-MedPed, Simon Broome, and Dutch Lipid Clinic Network. […] The role of genetic testing and cascade screening among families is discussed in this review.

• #31 Familial hypercholesterolemia in Southeast and East Asia | Thoracic Key

  https://thoracickey.com/familial-hypercholesterolemia-in-southeast-and-east-asia/

  The performances of different diagnostic criteria (Simon Broome, US MEDPED, and JFHMC) as compared to DLCN were assessed in 755 patients of Malay, Chinese, and Indian descent. […] In a recent meta-analysis, the prevalence of FH in Asia was 1:526 (4 studies, including 2 studies from Japan, 1 study from Korea, 1 study from China). […] Variability in the reported prevalence of FH may be because a variety of diagnostic criteria are used within Asian countries. […] The lack of consensus regarding diagnostic criteria makes it difficult to compare different countries or even healthcare centers within the same country. […] Additionally, in a recent meta-analysis, compared to the general population, the prevalence of FH in Asia was 29-fold higher among those with premature CHD. […] These findings highlight the importance of considering FH in Asian individuals who present with premature CHD. […] These findings highlight the need for increasing awareness of FH in this region.

• #32 Familial Hypercholesterolemia: The Lipids or the Genes? | Nutrition & Metabolism | Full Text

  https://nutritionandmetabolism.biomedcentral.com/articles/10.1186/1743-7075-8-23

  Early diagnosis of FH is crucial because the disease can be treated with lipid lowering therapy and lifestyle changes early on to prevent complications. […] The majority of people with FH have a mild phenotype, are undiagnosed and untreated, and ultimately develop premature cardiovascular disease. […] A DNA diagnosis for FH is the only definite diagnosis for the disease. […] Cascade genetic screening for FH is cost-effective and should be adopted by national healthcare programs.

• #33 NHS England — London » Familial Hypercholesterolemia (FH)

  https://www.england.nhs.uk/london/london-clinical-networks/our-networks/cardiac/familial-hypercholesterolaemia/

  Cascade testing is a cost-effective method of finding additional FH patients, and is fully endorsed by NICE FH guidelines. […] Data from the 29 BHF funded nurses have shown there have been more than 20,000 genetic tests, which has resulted in the identification of more than 4150 mutation positive index cases. […] All FH patients require statin lowering therapy, which results in a highly significant reduction in CHD rates and improved life expectancy for FH patients. […] In 2008 the NICE guideline CG71 was published documenting the care pathway and management of adults and children with FH. […] These children will be primarily found through cascade testing by tracing the relatives of the 15,000 or so known index cases with FH currently being treated in lipid clinics throughout the UK.

• #34 Familial hypercholesterolemia – Wikipedia

  https://en.wikipedia.org/wiki/Familial_hypercholesterolemia

  Cholesterol screening and genetic testing among family members of people with known FH is cost-effective. […] The global prevalence of FH is approximately 10 million people. In most populations studied, heterozygous FH occurs in about 1:250 people, but not all develop symptoms. Homozygous FH occurs in about 1:1,000,000. […] LDLR mutations are more common in certain populations, presumably because of a genetic phenomenon known as the founder effect; they were founded by a small group of individuals, one or several of whom was a carrier of the mutation.

• #35 How Common is Familial Hypercholesterolemia? | Blogs | CDC

  https://blogs.cdc.gov/genomics/2021/01/25/how-common-is-fh/

  The high prevalence of FH among people with CAD provides evidence supporting systematically screening those with CAD for FH, followed by cascade screening of family members of those diagnosed with FH. […] A more population-based approach relies on screening lipid levels. […] A recent study showed improvements in LDL-C levels for children with FH treated with lipid-lowering treatments. […] Recommendations for cholesterol screening in children differ: while the National Heart, Lung, and Blood Institute (NHLBI) guidelines recommend universal cholesterol screening for children at ages 9-11 and 18-21, the United States Preventive Services Task Force found insufficient evidence to recommend for or against cholesterol screening in children. […] In addition to elevated LDL-C levels, family health history of early heart disease is another important indicator for FH, but family health history is underutilized in clinical care.

• #36 Familial Hypercholesterolemia: Cardiovascular Risk Stratification and Clinical Management

  https://www.acc.org/Latest-in-Cardiology/Articles/2020/06/01/13/54/Familial-Hypercholesterolemia

  Familial hypercholesterolemia (FH) is the most common monogenic disorder, affecting an estimated 1:250 people worldwide. […] Although the prevalence of FH in the general population is substantial, only about 15% to 20% of affected patients receive a formal diagnosis. […] Universal screening at 9-11 years of age for elevated LDL-C is recommended by multiple organizations. […] The FH Foundation recommends genetic testing in patients with definitive or probable FH along with cascade screening of first degree relatives. […] FH is an underdiagnosed yet treatable disorder. Recognizing FH is of utmost importance due to the high risk of premature CAD and major adverse cardiovascular events. […] After diagnosis of an index case, there is a mandate to perform cascade lipid and/or genetic screening of all first-degree relatives.

• #37 Finding missed cases of familial hypercholesterolemia in health systems using machine learning | npj Digital Medicine

  https://www.nature.com/articles/s41746-019-0101-5

  Familial hypercholesterolemia (FH) is an underdiagnosed dominant genetic condition affecting approximately 0.4% of the population and has up to a 20-fold increased risk of coronary artery disease if untreated. […] Despite the morbidity and mortality associated with FH and the clear benefits of timely management, it is estimated that less than 10% of persons with FH in the US have been diagnosed, with the identification of index FH cases (probands) as a major bottleneck. […] Therefore, there is a strong need to develop better approaches to screen for FH. […] Our random forest classifier demonstrated good positive predictive value and sensitivity upon application to an unseen internal test dataset (ppv 0.88, sensitivity 0.75) and an external Geisinger EHR dataset (ppv 0.85, sensitivity 0.67) including those with genetically confirmed FH.

• #38 Finding missed cases of familial hypercholesterolemia in health systems using machine learning | npj Digital Medicine

  https://www.nature.com/articles/s41746-019-0101-5

  The ultimate utility of any screening test must be considered in the context of its cost-effectiveness. […] Compared to universal genetic testing or clinical criteria-based screening of all comers, the use of EHR-based detection of FH through machine-learning can massively improve the ability of a health system to find patients at risk of FH.

• #39 How Common is Familial Hypercholesterolemia? | Blogs | CDC

  https://blogs.cdc.gov/genomics/2021/01/25/how-common-is-fh/

  A diagnosis of FH can inform how a persons care is managed, which can result in better health outcomes. […] A diagnosis of FH can trigger more aggressive or different drug regimens, such as high intensity statins and PCSK9 inhibitors. […] Hu and colleagues estimated that globally only about 1% of the approximately 25 million individuals with FH are diagnosed. […] Reflecting the public health importance of increasing identification of FH in the population, CDC designated cascade screening of relatives of those diagnosed with FH as a tier 1 genomic application. […] Studies have shown that cascade genetic screening for FH is cost effective. […] Whichever approach to early identification of those with FH is taken, with over 1 million people in the United States and 25 million globally with FH and many of them undiagnosed, the public health burden of FH is increasingly clear.

• #40 Familial Hypercholesterolemia: The Lipids or the Genes? | Nutrition & Metabolism | Full Text

  https://nutritionandmetabolism.biomedcentral.com/articles/10.1186/1743-7075-8-23

  Early diagnosis of FH is crucial because the disease can be treated with lipid lowering therapy and lifestyle changes early on to prevent complications. […] The majority of people with FH have a mild phenotype, are undiagnosed and untreated, and ultimately develop premature cardiovascular disease. […] A DNA diagnosis for FH is the only definite diagnosis for the disease. […] Cascade genetic screening for FH is cost-effective and should be adopted by national healthcare programs.

• #41 Reducing the Global Public Health Burden of Familial Hypercholesterolemia: More Work Ahead | Blogs | CDC

  https://blogs.cdc.gov/genomics/2020/01/21/reducing-the-global/

  Separate guidelines should be created for severe and homozygous FH, defined as either the presence of LDL cholesterol levels 400 mg/dL or greater or a pathogenic gene variant in any of the FH-related genes on two different alleles. […] A family-based care plan should be developed with opportunities for patient involvement and shared decision-making. […] FH registries can allow researchers and public health professionals to quantify current practices, identify gaps between guidelines and health care delivery, publish outcome metrics, identify areas for future resource deployment, disseminate and define best practices, and facilitate FH awareness and screening. […] Additional research is crucial to understand the genetic and environmental factors in inherited lipid disorders, the natural history of such disorders, the development of atherosclerosis, interventions to halt disease progression and the safety and efficacy of new and existing lipid-lowering drugs.

• #42 Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region

  https://www.jstage.jst.go.jp/article/jat/advpub/0/advpub_56762/_article/-char/en

  Familial hypercholesterolemia (FH) is a common genetic disease that is estimated to affect at least 15 million people in the Asia Pacific region. A literature review was undertaken to provide an overview of the epidemiology, diagnosis, and management of FH across the region. […] Currently, epidemiological data relating to FH are lacking across the Asia Pacific. Of the 15 countries and regions considered, locally conducted studies to determine FH prevalence were only identified for Australia, China, India, and Japan. […] Estimates of current FH diagnosis rates suggest that most affected individuals remain undiagnosed and untreated. […] FH registries are gaining momentum across the region, with registries now established in almost half of the countries and regions evaluated. This review concludes with a Call to Action on FH for Asia Pacific to engage healthcare professionals, improve public awareness, and form national FH alliances, comprising all relevant healthcare professional organizations, as a platform to expedite national quality improvement programs in the management of FH.

• #43 Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC) – ASCVD & Lipidology Knowledge Hub

  https://ascvd-lipidology.knowledgehub.wiley.com/global-perspective-of-familial-hypercholesterolaemia-a-cross-sectional-study-from-the-eas-familial-hypercholesterolaemia-studies-collaboration-fhsc/

  The European Atherosclerosis Society Familial Hypercholesterolaemia Studies Collaboration (FHSC) global registry provides a platform for the global surveillance of familial hypercholesterolaemia through harmonisation and pooling of multinational data. […] Familial hypercholesterolaemia is diagnosed late. […] Earlier detection and greater use of combination therapies are required to reduce the global burden of familial hypercholesterolaemia.

• #44 NHS England — London » Familial Hypercholesterolemia (FH)

  https://www.england.nhs.uk/london/london-clinical-networks/our-networks/cardiac/familial-hypercholesterolaemia/

  Familial Hypercholesterolemia (FH) is a genetic disease which results in the reduced clearance of atherogenic LDL-cholesterol (bad cholesterol) in the blood, and an increased risk of early heart disease. […] FH in the UK population is believed to be approximately 1 in 250, meaning about 220,000 people in the UK have FH, of whom less than 8% are currently identified. […] The 2019 NHS Long Term Plan has set the ambitious target of finding 25% of the predicted FH patients in England in the next 5 years. […] A typical GP practice with 10,000 patients might have up to 40 patients with FH who have a significantly increased risk of premature heart disease and many of these have not been identified, or if identified are not being offered high intensity statin therapy. […] The 2017 NICE FH guideline has recommended case finding in primary care using electronic records as an acceptable and highly cost-effective method for individual practices to identify patients who so far did not have the benefit of treatment.

• #45 NHS England — London » Familial Hypercholesterolemia (FH)

  https://www.england.nhs.uk/london/london-clinical-networks/our-networks/cardiac/familial-hypercholesterolaemia/

  Cascade testing is a cost-effective method of finding additional FH patients, and is fully endorsed by NICE FH guidelines. […] Data from the 29 BHF funded nurses have shown there have been more than 20,000 genetic tests, which has resulted in the identification of more than 4150 mutation positive index cases. […] All FH patients require statin lowering therapy, which results in a highly significant reduction in CHD rates and improved life expectancy for FH patients. […] In 2008 the NICE guideline CG71 was published documenting the care pathway and management of adults and children with FH. […] These children will be primarily found through cascade testing by tracing the relatives of the 15,000 or so known index cases with FH currently being treated in lipid clinics throughout the UK.

• #46 Familial Hypercholesterolemia | What We Do | World Heart Federation

  https://world-heart-federation.org/what-we-do/cholesterol/familial-hypercholesterolemia/

  Familial hypercholesterolemia (FH) is a genetic condition that causes high cholesterol. It affects approximately 34 million people worldwide. Familial hypercholesterolemia is an inherited, metabolic disorder found in all races and ethnicities. FH remains underdiagnosed and undertreated worldwide due to low levels of awareness, both among the general public and among healthcare professionals. Only 10% of those affected know about their condition and are adequately treated. FH is inherited. Typically, parents with one pathogenic mutation have a 50% chance of passing down the condition to each child. Therefore, it is essential to screen first- and second-degree relatives of an individual diagnosed with FH, to detect other family members who may have inherited the disorder. FH is severely underdiagnosed. Today, only 10% of individuals born with FH have been diagnosed worldwide. This is a direct consequence of low levels of awareness and education among the public and the medical community. Early diagnosis and lifelong treatment of FH reduces the risk of premature cardiovascular disease and heart attacks. In 1998, the World Health Organization (WHO) officially recognized familial hypercholesterolemia as a global public health issue and published a set of 11 recommendations to address its burden. In January 2020, representatives from the global FH community published a Global Call to Action and highlighted a new set of recommendations, in 9 areas of priority, to reduce the clinical and public health burden of familial hypercholesterolemia: Raise awareness of FH, Advocate for FH, Screen, test, and diagnose for individuals with FH, Manage and treat FH patients, Guarantee care for severe and homozygous FH patients, Develop family-based care plans for people living with FH, Establish FH registries, Conduct research and implement FH programmes, Understand the value and costs of FH interventions.

• #47 Familial Hypercholesterolemia | What We Do | World Heart Federation

  https://world-heart-federation.org/what-we-do/cholesterol/familial-hypercholesterolemia/

  Familial hypercholesterolemia (FH) is a genetic condition that causes high cholesterol. It affects approximately 34 million people worldwide. Familial hypercholesterolemia is an inherited, metabolic disorder found in all races and ethnicities. FH remains underdiagnosed and undertreated worldwide due to low levels of awareness, both among the general public and among healthcare professionals. Only 10% of those affected know about their condition and are adequately treated. FH is inherited. Typically, parents with one pathogenic mutation have a 50% chance of passing down the condition to each child. Therefore, it is essential to screen first- and second-degree relatives of an individual diagnosed with FH, to detect other family members who may have inherited the disorder. FH is severely underdiagnosed. Today, only 10% of individuals born with FH have been diagnosed worldwide. This is a direct consequence of low levels of awareness and education among the public and the medical community. Early diagnosis and lifelong treatment of FH reduces the risk of premature cardiovascular disease and heart attacks. In 1998, the World Health Organization (WHO) officially recognized familial hypercholesterolemia as a global public health issue and published a set of 11 recommendations to address its burden. In January 2020, representatives from the global FH community published a Global Call to Action and highlighted a new set of recommendations, in 9 areas of priority, to reduce the clinical and public health burden of familial hypercholesterolemia: Raise awareness of FH, Advocate for FH, Screen, test, and diagnose for individuals with FH, Manage and treat FH patients, Guarantee care for severe and homozygous FH patients, Develop family-based care plans for people living with FH, Establish FH registries, Conduct research and implement FH programmes, Understand the value and costs of FH interventions.

• #48 Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region

  https://www.jstage.jst.go.jp/article/jat/advpub/0/advpub_56762/_article/-char/en

  Familial hypercholesterolemia (FH) is a common genetic disease that is estimated to affect at least 15 million people in the Asia Pacific region. A literature review was undertaken to provide an overview of the epidemiology, diagnosis, and management of FH across the region. […] Currently, epidemiological data relating to FH are lacking across the Asia Pacific. Of the 15 countries and regions considered, locally conducted studies to determine FH prevalence were only identified for Australia, China, India, and Japan. […] Estimates of current FH diagnosis rates suggest that most affected individuals remain undiagnosed and untreated. […] FH registries are gaining momentum across the region, with registries now established in almost half of the countries and regions evaluated. This review concludes with a Call to Action on FH for Asia Pacific to engage healthcare professionals, improve public awareness, and form national FH alliances, comprising all relevant healthcare professional organizations, as a platform to expedite national quality improvement programs in the management of FH.

• #49 Familial hypercholesterolemia in Southeast and East Asia | Thoracic Key

  https://thoracickey.com/familial-hypercholesterolemia-in-southeast-and-east-asia/

  Even though at least a quarter of the worlds FH population lives in Southeast and East Asia, there are substantial gaps in knowledge regarding the epidemiology of FH due to low awareness, the absence of national screening programs, and limited availability of genetic testing. […] We discuss the most recent and relevant information available related to diagnostic criteria, prevalence, awareness, clinical characteristics, genetic epidemiology, and treatment in the FH population of Southeast and East Asia. […] Increasing awareness and improving the diagnosis and management of FH will reduce the burden of premature CHD in these regions of the world. […] There are 3.69.0 million people with FH in Southeast and East Asia (assuming a prevalence of 1:200 to 1:500), but there are several gaps in our knowledge regarding FH in this part of the world.

• #50 Update of the Brazilian Guideline for Familial Hypercholesterolemia – 2021 – ABC Cardiol

  https://abccardiol.org/en/article/update-of-the-brazilian-guideline-for-familial-hypercholesterolemia-2021/

  Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary artery disease (CAD), especially myocardial infarction, related to lifetime exposure to high concentrations of low-density lipoprotein cholesterol (LDL-C). It is a severe form of genetic dyslipidemia in which approximately 85% of men and 50% of women may experience a coronary event before 65 years of age if not properly treated. […] FH is considered a public health problem because of the high prevalence (approximately 1:200-300 in the general population) and the association with early CAD. Reduced life expectancy was also observed in several families. In addition, nearly 200,000 people die each year worldwide from early heart attacks due to the disease, which could be prevented with appropriate treatments. If not treated, men and women with heterozygous FH will develop CAD before the ages of 55 and 60 years, respectively. Homozygotes, in turn, commonly develop CAD very early in life and, if not treated, may die before the age of 20. However, once the diagnosis is made and the treatment is initiated, the natural history of atherosclerotic disease can be changed.

• #51 Update of the Brazilian Guideline for Familial Hypercholesterolemia – 2021 – ABC Cardiol

  https://abccardiol.org/en/article/update-of-the-brazilian-guideline-for-familial-hypercholesterolemia-2021/

  Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary artery disease (CAD), especially myocardial infarction, related to lifetime exposure to high concentrations of low-density lipoprotein cholesterol (LDL-C). It is a severe form of genetic dyslipidemia in which approximately 85% of men and 50% of women may experience a coronary event before 65 years of age if not properly treated. […] FH is considered a public health problem because of the high prevalence (approximately 1:200-300 in the general population) and the association with early CAD. Reduced life expectancy was also observed in several families. In addition, nearly 200,000 people die each year worldwide from early heart attacks due to the disease, which could be prevented with appropriate treatments. If not treated, men and women with heterozygous FH will develop CAD before the ages of 55 and 60 years, respectively. Homozygotes, in turn, commonly develop CAD very early in life and, if not treated, may die before the age of 20. However, once the diagnosis is made and the treatment is initiated, the natural history of atherosclerotic disease can be changed.

• #52 What is Familial Hypercholesterolemia – Color Health

  https://www.color.com/learn/what-is-familial-hypercholesterolemia

  About 1 in 50 people with high cholesterol are born with Familial Hypercholesterolemia (FH), a hereditary disorder which can impact you and your family. […] FH is a hereditary disorder that causes very high cholesterol levels from an early age. […] Having FH means you’re exposed to high cholesterol from an early age, which makes you 22 times more likely to develop coronary heart disease than are those with normal cholesterol and no FH. […] FH is passed down through families. […] More than 90% of people with FH don’t know they have the disorder. […] We recommend that you investigate your family history to learn if anyone has FH or has had genetic testing for FH. […] If you have FH, there’s a 50% chance that your children, siblings, and parents also have it.

• #53 Update of the Brazilian Guideline for Familial Hypercholesterolemia – 2021 – ABC Cardiol

  https://abccardiol.org/en/article/update-of-the-brazilian-guideline-for-familial-hypercholesterolemia-2021/

  Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary artery disease (CAD), especially myocardial infarction, related to lifetime exposure to high concentrations of low-density lipoprotein cholesterol (LDL-C). It is a severe form of genetic dyslipidemia in which approximately 85% of men and 50% of women may experience a coronary event before 65 years of age if not properly treated. […] FH is considered a public health problem because of the high prevalence (approximately 1:200-300 in the general population) and the association with early CAD. Reduced life expectancy was also observed in several families. In addition, nearly 200,000 people die each year worldwide from early heart attacks due to the disease, which could be prevented with appropriate treatments. If not treated, men and women with heterozygous FH will develop CAD before the ages of 55 and 60 years, respectively. Homozygotes, in turn, commonly develop CAD very early in life and, if not treated, may die before the age of 20. However, once the diagnosis is made and the treatment is initiated, the natural history of atherosclerotic disease can be changed.

• #54 Update of the Brazilian Guideline for Familial Hypercholesterolemia – 2021 – ABC Cardiol

  https://abccardiol.org/en/article/update-of-the-brazilian-guideline-for-familial-hypercholesterolemia-2021/

  Familial hypercholesterolemia (FH) is a common genetic cause of premature coronary artery disease (CAD), especially myocardial infarction, related to lifetime exposure to high concentrations of low-density lipoprotein cholesterol (LDL-C). It is a severe form of genetic dyslipidemia in which approximately 85% of men and 50% of women may experience a coronary event before 65 years of age if not properly treated. […] FH is considered a public health problem because of the high prevalence (approximately 1:200-300 in the general population) and the association with early CAD. Reduced life expectancy was also observed in several families. In addition, nearly 200,000 people die each year worldwide from early heart attacks due to the disease, which could be prevented with appropriate treatments. If not treated, men and women with heterozygous FH will develop CAD before the ages of 55 and 60 years, respectively. Homozygotes, in turn, commonly develop CAD very early in life and, if not treated, may die before the age of 20. However, once the diagnosis is made and the treatment is initiated, the natural history of atherosclerotic disease can be changed.

• #55 Epidemiology and Management of Hyperlipidemia

  https://www.ajmc.com/view/epidemiology-and-management-of-hyperlipidemia-article

  There are 2 types of FH: homozygous (HoFH) and heterozygous FH (HeFH). In the United States, HeFH is more common, affecting approximately 1 in 500 people, and is associated with LDL-C levels of 200 to 450 mg/dL. Patients with HeFH often develop coronary artery disease before the age of 60 years. HoFH is rarer, affecting roughly 1 in 300,000 to 1,000,000 people, but is associated with much higher LDL-C levels compared with HeFH (450 to 1000 mg/dL). If left untreated, patients with HoFH may die before the age of 20 years. […] High-intensity statin therapy is recommended in patients with FH by the ACC/AHA as well as by the Canadian Cardiovascular Society (CCS) and the European Atherosclerosis Society (EAS). Moderate-intensity therapy is recommended in patients who cannot tolerate high-intensity treatment. All guidelines for the treatment of FH recommend initiating treatment as soon as possible. In addition to statins, ezetimibe and PCSK9 inhibitors are recommended in patients who have an insufficient response to statins.

• #56 Prevalence and factors associated with possible cases of familial hypercholesterolemia in Brazilian adults: a cross-sectional study | Scientific Reports

  https://www.nature.com/articles/s41598-023-47692-7

  Despite all the negative repercussions of FH, the disease is globally underdiagnosed and undertreated, amplifying the burden of cardiovascular disease (CVD) in low- and middle-income countries. […] In Brazil, there is little information on the population diagnosis of FH. […] This study advances by identifying, through laboratory tests of the Brazilian National Health Survey (PNS), possible cases of FH in adults. […] The early identification of individuals with FH is relevant as it can enable early treatment with statins, capable of reducing cardiovascular events in these individuals by up to 76%. […] The frequency of FH in adults in Brazil was 1 case in 104 individuals, affecting more women, those aged 45-59 years, less educated, with TC310 mg/dL, hypertension and diabetes. […] Diagnosis of possible cases of FH can help reduce the impact on cardiovascular morbidity and mortality in Brazilians by enabling early treatment, and are in line with WHO efforts to identify FH in low- and middle-income countries for CVD prevention.

• #57 Orphanet: Homozygous familial hypercholesterolemia

  https://www.orpha.net/en/disease/detail/391665

  The current prevalence estimate of homozygous familial hypercholesterolemia (FH) is approximately 1/315,000 (range 1/100,000-1,000,000) individuals, with a higher prevalence in founder populations (e.g. in the Middle East, Quebec and South Africa). […] Diagnosis is made based on clinical features, the degree of LDL cholesterol elevation, family history, plus DNA sequencing for a definitive diagnosis. […] Genetic counseling should be offered to at-risk couples: 25% of their children will have a normal lipid profile, 50% will have heterozygous FH which will require monitoring and sometimes pharmacotherapy starting at ages 8-10 years, and 25% will have homozygous FH requiring immediate attention. […] Life expectancy without treatment is reduced by three to five decades. With apheresis, patients now survive into their fifth and sixth decades of life, but still can develop clinical end points of severe premature atherosclerotic cardiovascular disease and aortic disease.

• #58 Reducing the Global Public Health Burden of Familial Hypercholesterolemia: More Work Ahead | Blogs | CDC

  https://blogs.cdc.gov/genomics/2020/01/21/reducing-the-global/

  Understanding the cost and value of FH care is crucial both for the family and society. […] The recommendations of this international group highlight the importance of integrating FH care in health systems with a lifelong approach to care and for the partnerships among patient organizations, health care providers, researchers, policy makers, and public health programs to reduce the global burden of FH.

• #59 How Common is Familial Hypercholesterolemia? | Blogs | CDC

  https://blogs.cdc.gov/genomics/2021/01/25/how-common-is-fh/

  A diagnosis of FH can inform how a persons care is managed, which can result in better health outcomes. […] A diagnosis of FH can trigger more aggressive or different drug regimens, such as high intensity statins and PCSK9 inhibitors. […] Hu and colleagues estimated that globally only about 1% of the approximately 25 million individuals with FH are diagnosed. […] Reflecting the public health importance of increasing identification of FH in the population, CDC designated cascade screening of relatives of those diagnosed with FH as a tier 1 genomic application. […] Studies have shown that cascade genetic screening for FH is cost effective. […] Whichever approach to early identification of those with FH is taken, with over 1 million people in the United States and 25 million globally with FH and many of them undiagnosed, the public health burden of FH is increasingly clear.

• #60 Finding missed cases of familial hypercholesterolemia in health systems using machine learning | npj Digital Medicine

  https://www.nature.com/articles/s41746-019-0101-5

  The ultimate utility of any screening test must be considered in the context of its cost-effectiveness. […] Compared to universal genetic testing or clinical criteria-based screening of all comers, the use of EHR-based detection of FH through machine-learning can massively improve the ability of a health system to find patients at risk of FH.

• #61 How Common is Familial Hypercholesterolemia? | Blogs | CDC

  https://blogs.cdc.gov/genomics/2021/01/25/how-common-is-fh/

  Familial Hypercholesterolemia (FH) is a genetic condition that leads to high blood levels of low-density lipoprotein cholesterol, also known as LDL-C or bad cholesterol. […] FH is vastly underdiagnosed, with a majority of diagnoses made only after an individuals first cardiac event. […] Knowing the prevalence of FH can help stakeholders, such as health systems and health departments, plan for expected cases and promote coverage for evidence-based treatments for those with FH. […] Studies have estimated that the prevalence of heterozygous FH is 1 in 250 in the general population, both in the United States and globally. […] A recent meta-analysis by Hu and colleagues found that the global prevalence of heterozygous FH in the general population is closer to 1 in 311. […] The study estimated FH prevalence among individuals with atherosclerotic cardiovascular disease (ASCVD).

• #62 Epidemiology of familial hypercholesterolaemia: Community and clinical – PubMed

  https://pubmed.ncbi.nlm.nih.gov/30270061/

  Familial hypercholesterolaemia (FH) is a genetic disorder affecting the metabolism of low-density lipoprotein (LDL) particles, leading to high LDL-cholesterol levels maintained over time and higher risk of cardiovascular disease (CVD) early in life. Contemporary studies have challenged prior estimations of FH prevalence and suggest this condition to be more frequent than previously considered, with an overall prevalence rate of 1:200-300 individuals in the general population (1:160,000-300,000 for homozygous FH). […] However, prevalence of FH varies around the world. In part this is due to an artefact of approaches of detection and methods used to diagnose FH (e.g. lack of gold standard for diagnosis of FH, different criteria applied, availability of genetic testing). But also due to intrinsic characteristic of different populations, e.g. higher presence of founder effects or rates of consanguinity. Additionally, results from many regions are lacking and it is estimated that only a small percentage of subjects with FH would have been diagnosed overall. FH entails a significantly higher risk of CVD, reported to be higher than that estimated by conventional risk assessment tools for the general population. This risk is mainly driven by coronary heart disease.

• #63 Familial Hypercholesterolemia and Its Current Diagnostics and Treatment Possibilities: A Literature Analysis

  https://www.mdpi.com/1648-9144/58/11/1665

  FH is relatively common in comparison to other genetic disorders, and affects an estimated 20 million people in the world. However, 90% of those patients are underdiagnosed. Prevalence varies according to geographical location and the diagnostic criteria used. Moreover, there is an absence of centralized registries and no agreement on unified diagnostic criteria globally, which makes the evaluation and comparison of FH epidemiology in different countries even more difficult. However, in a recent meta-analysis, the prevalence of FH in Asia was 0.19% (4 studies), in Europe—0.32% (19 studies), and 0.32% in North America (9 studies). In Russia, using the Dutch Lipid Clinic Network criteria, the prevalence of patients with definite or probable heterozygous FH combined was 0.58%. Based on systematic reviews and meta-analyses, the overall prevalence of FH ranges from about 1: 200 to 250 in the heterozygous FH group, and from 1: 100.000 to 160.000 in the homozygous FH group.

• #64 Reducing the Global Public Health Burden of Familial Hypercholesterolemia: More Work Ahead | Blogs | CDC

  https://blogs.cdc.gov/genomics/2020/01/21/reducing-the-global/

  Separate guidelines should be created for severe and homozygous FH, defined as either the presence of LDL cholesterol levels 400 mg/dL or greater or a pathogenic gene variant in any of the FH-related genes on two different alleles. […] A family-based care plan should be developed with opportunities for patient involvement and shared decision-making. […] FH registries can allow researchers and public health professionals to quantify current practices, identify gaps between guidelines and health care delivery, publish outcome metrics, identify areas for future resource deployment, disseminate and define best practices, and facilitate FH awareness and screening. […] Additional research is crucial to understand the genetic and environmental factors in inherited lipid disorders, the natural history of such disorders, the development of atherosclerosis, interventions to halt disease progression and the safety and efficacy of new and existing lipid-lowering drugs.

• #65

  https://link.springer.com/article/10.1007/s11886-022-01783-5

  The current review discusses the importance and significance of differentiating monogenic familial hypercholesterolemia (FH) from polygenic hypercholesterolemia for clinical purpose. […] Consistent scientific evidence have demonstrated that, compared to polygenic hypercholesterolemia, monogenic FH patients are at significantly higher risk for premature coronary heart disease (CHD). […] Monogenic FH also has poorer therapeutic response compared to its polygenic counterpart. […] There is also an urgency to develop genotype-based clinical guideline that stratify patients on genotype and not only based on traditionally known cardiovascular risk factors. […] The prevalence is generally around 1:250-500 individuals. […] Several studies have demonstrated that monogenic FH and polygenic hypercholesterolemia can have different lipid and disease presentations as well as responsiveness to lipid-lowering therapy.

• #66

  https://link.springer.com/article/10.1007/s11886-022-01783-5

  Genetic testing should be performed whenever possible. […] Identifying genetic background (monogenic or polygenic) can reinforce early diagnosis, determine drug of choice and intensity, disease prognosis, and optimize disease screening. […] There is an urgent need to develop genotype-based clinical guidelines and to consider genotype in stratifying hypercholesterolemia patients rather than stratifying patients based on the conventional cardiovascular risks alone.

• #67 Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region

  https://www.jstage.jst.go.jp/article/jat/28/5/28_56762/_html/-char/ja

  With half of the worlds population of individuals who are living with FH residents in the Asia Pacific, the time has come to implement systematic and system-wide improvements in the management of this debilitating and life-threatening condition. […] A Call to Action on FH for Asia Pacific: There is an urgent need to improve the diagnosis and management of FH across the Asia Pacific region which can be achieved by engaging healthcare professionals both specialists and generalists in educational programmes which will equip them to play their role in delivering optimal FH management.

• #68 Reducing the Global Public Health Burden of Familial Hypercholesterolemia: More Work Ahead | Blogs | CDC

  https://blogs.cdc.gov/genomics/2020/01/21/reducing-the-global/

  Familial hypercholesterolemia (FH) is an underdiagnosed and undertreated genetic disorder that leads to premature morbidity and mortality due to heart disease. […] If untreated, FH is the most common life-threatening genetic condition and is found around the world in all races and ethnic groups, with a prevalence of about 1:200-250 and even higher in some groups. […] During the past 20 years, many countries have made important progress in the diagnosis, management, and tracking of millions of patients with FH. […] Awareness should be enhanced regarding the importance of FH as a global public health issue. […] Screening for FH should be performed according to country-specific guidelines. […] Treatment for FH to prevent premature heart disease should be patient-centric, available, and affordable.

• #69 Familial Hypercholesterolemia in Asia Pacific: A Review of Epidemiology, Diagnosis, and Management in the Region

  https://www.jstage.jst.go.jp/article/jat/28/5/28_56762/_html/-char/ja

  With half of the worlds population of individuals who are living with FH residents in the Asia Pacific, the time has come to implement systematic and system-wide improvements in the management of this debilitating and life-threatening condition. […] A Call to Action on FH for Asia Pacific: There is an urgent need to improve the diagnosis and management of FH across the Asia Pacific region which can be achieved by engaging healthcare professionals both specialists and generalists in educational programmes which will equip them to play their role in delivering optimal FH management.

• #70 Past, Present, and Future of Familial Hypercholesterolemia Management | Methodist DeBakey Cardiovascular J

  https://journal.houstonmethodist.org/articles/10.14797/mdcvj.887

  The availability of modern potent lipid-lowering therapies, particularly PCSK9 inhibitors, in addition to recognizing the impact of monogenic defects and the heterogeneity of ASCVD risk in FH, have expanded the utility of identifying higher-risk individuals beyond the prognostic dimension, paving the road towards more personalized medicine.

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