Materiały źródłowe

• #1 Familial Hypercholesterolemia Follow-up: Deterrence/Prevention, Complications, Prognosis

  https://emedicine.medscape.com/article/121298-followup

  Prognosis depends heavily on the extent to which LDLc levels can be reduced. […] Patients with homozygous FH have and extremely limited life expectancy without major medical intervention. […] Treatment of other modifiable risk factors such as smoking, hypertension, and diabetes further decreases the risk of CAD. […] Because long-term prospective studies on subjects with FH are not available, precise predictions regarding improved outcomes are difficult.

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

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

  Familial hypercholesterolemia (FH) is a common, inherited disorder of cholesterol metabolism. […] Patients can have a homozygous or a heterozygous genotype, which determines the severity of the disease and the onset age of cardiovascular disease (CVD) manifestations. […] FH often leads to the development of early cardiovascular disease and increases the risk of sudden cardiac death. Therefore, early diagnosis and treatment of this disease is very important. […] It is important to say that the timeous lowering of LDL-C levels can reduce the risk of cardiovascular events and mortality in patients with FH. […] Therefore, it is essential to increase awareness of FH in order to reduce the burden of acute coronary syndrome (ACS). […] In a recent meta-analysis (18 studies) it was found that the risk of cardiovascular events (CVE) and death was significantly increased in patients with FH.

• #3 The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population | Scientific Reports

  https://www.nature.com/articles/s41598-017-17181-9

  Familial hypercholesterolemia (FH) is an autosomal dominant disorder associated with premature cardiovascular disease (CVD). […] Individuals with this form of FH are more likely to develop premature coronary heart disease (CHD) in the second or third decade of their lives. […] Individuals with HoFH have six-to-eight-fold higher levels of LDL-C plasma than normal and develop CHD in the early stages of their lives, often dying before the age of 20. […] This study provides a diagnostic guideline of FH in Iran including clinical criteria, cascade screening by using the next generation sequencing (NGS)-based method followed by Sanger sequencing, in addition to mutation pathogenesis analyses. […] This study has found two mutations occurring in more than one of the patients examined. […] Amongst the 14 child probands clinically diagnosed with HoFH, mutations were found in nine patients (57%).

• #4 Familial Hypercholesterolemia Follow-up: Deterrence/Prevention, Complications, Prognosis

  https://emedicine.medscape.com/article/121298-followup

  Prognosis depends heavily on the extent to which LDLc levels can be reduced. […] Patients with homozygous FH have and extremely limited life expectancy without major medical intervention. […] Treatment of other modifiable risk factors such as smoking, hypertension, and diabetes further decreases the risk of CAD. […] Because long-term prospective studies on subjects with FH are not available, precise predictions regarding improved outcomes are difficult.

• #5 Familial hypercholesterolemia – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/familial-hypercholesterolemia/symptoms-causes/syc-20353755

  Familial hypercholesterolemia affects the way the body processes cholesterol. As a result, people with familial hypercholesterolemia have a higher risk of heart disease and a greater risk of early heart attack. […] People who inherit the condition from both parents usually develop symptoms in childhood. If this rare and more severe variety is left untreated, death often occurs before age 20. […] People who have familial hypercholesterolemia have a higher risk of heart disease and death at a younger age. Heart attacks may occur before age 50 in men and age 60 in women. The rarer and more severe variety of the condition, if undiagnosed or untreated, can cause death before age 20.

• #6

  https://link.springer.com/article/10.1007/s11886-015-0665-x

  Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that clinically leads to increased low density lipoprotein-cholesterol (LDL-C) levels. As a consequence, FH patients are at high risk for cardiovascular disease (CVD). It is pivotal to diagnose FH at an early age, since lipid lowering results in a decreased risk of cardiovascular complications especially if initiated early, but unfortunately FH is largely underdiagnosed. The CVD outcome differs among heterozygous carriers of FH mutations, who, in general, typically suffer from CVD events in their fourth decade of life, while patients suffering from homozygous FH, the much rarer form of FH, might already have experienced serious cardiovascular complications in the second decade of life or even in childhood. In a significant proportion of FH patients LDL-C goals are not met, despite the use of maximal statin doses and additional lipid-lowering therapies. This underlines the need for additional therapies, and inhibition of PCSK9 and CETP is among the most promising new therapeutic options. In the pre-statin era, patients were considered to be at a 100-fold increased risk for coronary heart disease mortality when aged 20-39. Several studies have been published about the CVD risk in FH patients and the risk ratio (RR) associated with FH range from 3 to 16. When using lipid-lowering therapy, compared to non-FH subject, patients with FH were at a 10-fold risk for CAD. In another study by Huijgen et al., patients with a pathogenic LDLR mutation had a shorter event-free survival than their relatives who did not carry that mutation (HR 3.64, 95 % CI=3.24-4.08, P 0.001). In a recent study by Do and co-workers, exome sequencing was performed in nearly 10,000 genomes of patients with myocardial infarction (MI) at a young age, as well as controls. It was found that carriers of non-synonymous mutations in the gene coding for the LDLR were at 4.2-fold higher increased risk for MI. This risk was even higher in carriers of an LDLR null mutation (13-fold difference).

• #7 Familial hypercholesterolemia – Symptoms & causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/familial-hypercholesterolemia/symptoms-causes/syc-20353755

  Familial hypercholesterolemia affects the way the body processes cholesterol. As a result, people with familial hypercholesterolemia have a higher risk of heart disease and a greater risk of early heart attack. […] People who inherit the condition from both parents usually develop symptoms in childhood. If this rare and more severe variety is left untreated, death often occurs before age 20. […] People who have familial hypercholesterolemia have a higher risk of heart disease and death at a younger age. Heart attacks may occur before age 50 in men and age 60 in women. The rarer and more severe variety of the condition, if undiagnosed or untreated, can cause death before age 20.

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

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9692978/

  Familial hypercholesterolemia (FH) is a common, inherited disorder of cholesterol metabolism. […] Patients can have a homozygous or a heterozygous genotype, which determines the severity of the disease and the onset age of cardiovascular disease (CVD) manifestations. […] FH often leads to the development of early cardiovascular disease and increases the risk of sudden cardiac death. Therefore, early diagnosis and treatment of this disease is very important. […] It is important to say that the timeous lowering of LDL-C levels can reduce the risk of cardiovascular events and mortality in patients with FH. […] The study showed that cardiovascular events can be predicted by clinical or genetic diagnostic criteria as they had a similar ability to do it. […] Moreover, another study has shown that FH was associated with increased risk of MACCE, independently of age, sex, smoking, body mass index, hypertension, or diabetes mellitus (HR = 2.30, 95%CI = 1.09 to 4.84, p = 0.028).

• #9 Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia

  https://www.mdpi.com/2073-4425/15/3/297

  Familial hypercholesterolemia (FH) is one of the most common autosomal codominant Mendelian diseases. The major complications of FH include tendon and cutaneous xanthomas and coronary artery disease (CAD) associated with a substantial elevation of serum low-density lipoprotein levels (LDL). […] Genetic counseling and genetic testing for FH is useful for its diagnosis, risk stratification, and motivation for further LDL-lowering treatments. […] The most important and prognosis-defining complication of FH is cardiovascular disease. The factors associated with CAD in patients with FH have long been investigated. Classic risk factors associated with CAD among the non-FH population, including age, male sex, smoking, hypertension, and diabetes, are significantly and independently associated with CAD among FH patients as well.

• #10

  https://link.springer.com/article/10.1007/s11886-015-0665-x

  Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that clinically leads to increased low density lipoprotein-cholesterol (LDL-C) levels. As a consequence, FH patients are at high risk for cardiovascular disease (CVD). It is pivotal to diagnose FH at an early age, since lipid lowering results in a decreased risk of cardiovascular complications especially if initiated early, but unfortunately FH is largely underdiagnosed. The CVD outcome differs among heterozygous carriers of FH mutations, who, in general, typically suffer from CVD events in their fourth decade of life, while patients suffering from homozygous FH, the much rarer form of FH, might already have experienced serious cardiovascular complications in the second decade of life or even in childhood. In a significant proportion of FH patients LDL-C goals are not met, despite the use of maximal statin doses and additional lipid-lowering therapies. This underlines the need for additional therapies, and inhibition of PCSK9 and CETP is among the most promising new therapeutic options. In the pre-statin era, patients were considered to be at a 100-fold increased risk for coronary heart disease mortality when aged 20-39. Several studies have been published about the CVD risk in FH patients and the risk ratio (RR) associated with FH range from 3 to 16. When using lipid-lowering therapy, compared to non-FH subject, patients with FH were at a 10-fold risk for CAD. In another study by Huijgen et al., patients with a pathogenic LDLR mutation had a shorter event-free survival than their relatives who did not carry that mutation (HR 3.64, 95 % CI=3.24-4.08, P 0.001). In a recent study by Do and co-workers, exome sequencing was performed in nearly 10,000 genomes of patients with myocardial infarction (MI) at a young age, as well as controls. It was found that carriers of non-synonymous mutations in the gene coding for the LDLR were at 4.2-fold higher increased risk for MI. This risk was even higher in carriers of an LDLR null mutation (13-fold difference).

• #11 Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia

  https://www.mdpi.com/2073-4425/15/3/297

  Furthermore, the genetic status of FH has been associated with a 3- to 4-fold increased risk for CAD beyond the classical risk factors. […] Accordingly, genetic backgrounds need to be considered during risk assessment in patients with FH. […] Making an early diagnosis and initiating LDL-lowering therapy are key to improving the prognosis of patients with FH. […] Therefore, it is important to screen patients with FH in real-world settings, given that an early diagnosis leads to a better prognosis and that this is one of the most common inherited diseases. […] We found that the intervention group had a significantly greater reduction in LDL cholesterol levels than the waitlist control group without affecting patient satisfaction. Thus, we now have clinical evidence that providing genetic counseling, and genetic testing is useful for controlling LDL cholesterol, the most important surrogate marker of FH. […] Given that we have a variety of treatments for this common Mendelian disease, even for patients with homozygous FH, now is the prime time to implement genetic counseling and genetic testing for FH in daily clinical practice.

• #12

  https://link.springer.com/article/10.1007/s11886-015-0665-x

  Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that clinically leads to increased low density lipoprotein-cholesterol (LDL-C) levels. As a consequence, FH patients are at high risk for cardiovascular disease (CVD). It is pivotal to diagnose FH at an early age, since lipid lowering results in a decreased risk of cardiovascular complications especially if initiated early, but unfortunately FH is largely underdiagnosed. The CVD outcome differs among heterozygous carriers of FH mutations, who, in general, typically suffer from CVD events in their fourth decade of life, while patients suffering from homozygous FH, the much rarer form of FH, might already have experienced serious cardiovascular complications in the second decade of life or even in childhood. In a significant proportion of FH patients LDL-C goals are not met, despite the use of maximal statin doses and additional lipid-lowering therapies. This underlines the need for additional therapies, and inhibition of PCSK9 and CETP is among the most promising new therapeutic options. In the pre-statin era, patients were considered to be at a 100-fold increased risk for coronary heart disease mortality when aged 20-39. Several studies have been published about the CVD risk in FH patients and the risk ratio (RR) associated with FH range from 3 to 16. When using lipid-lowering therapy, compared to non-FH subject, patients with FH were at a 10-fold risk for CAD. In another study by Huijgen et al., patients with a pathogenic LDLR mutation had a shorter event-free survival than their relatives who did not carry that mutation (HR 3.64, 95 % CI=3.24-4.08, P 0.001). In a recent study by Do and co-workers, exome sequencing was performed in nearly 10,000 genomes of patients with myocardial infarction (MI) at a young age, as well as controls. It was found that carriers of non-synonymous mutations in the gene coding for the LDLR were at 4.2-fold higher increased risk for MI. This risk was even higher in carriers of an LDLR null mutation (13-fold difference).

• #13

  https://journals.lww.com/co-lipidology/fulltext/2023/12000/genotype_phenotype_correlation_in_a_large_cohort.9.aspx

  Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease (CVD). […] A negative/negative variant is associated with a significant higher LDL-C level in HoFH patients than a negative/defective variant, which in itself has a higher LDL-C level than a defective/defective variant. […] Significantly more premature CVD is present in close relatives of children with HeFH with negative variants compared to close relatives of HeFH children with defective variants (75% vs 59%; p 0.001). […] Performing genetic testing and identifying the type of underlying genetic variant is of added value in order to distinguish between pediatric patients with higher risks of premature CVD and to identify those that will benefit most from new types of lipid-lowering therapies.

• #14 Familial Hypercholesterolemia-Risk-Score: A New Score Predicting Cardiovascular Events and Cardiovascular Mortality in Familial Hypercholesterolemia – PubMed

  https://pubmed.ncbi.nlm.nih.gov/34433300/

  Objective: Familial hypercholesterolemia (FH) is associated with a high risk of premature atherosclerotic cardiovascular disease (ASCVD). However, this risk is highly heterogeneous and current risk prediction algorithms for FH suffer from limitations. The primary objective of this study was to develop a score predicting incident ASCVD events over 10 years in a large multinational FH cohort. The secondary objective was to investigate the prediction of major adverse cardiovascular events and cardiovascular mortality using this score. […] The FH-Risk-Score incorporates 7 clinical variables: sex, age, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, hypertension, smoking, and lipoprotein (a) (Lp(a)) with a Harrell C-index for 10-year ASCVD event of 0.75, which was superior to the SAFEHEART-RE (Spanish Familial Hypercholesterolemia Cohort; 0.69). Subjects with an elevated FH-Risk-Score had decreases in 10-year ASCVD-free survival, 10-year major adverse cardiovascular event-free survival, and 30-year survival for CV mortality compared with the low-risk group, with hazard ratios of 5.52 (3.94-7.73), 4.64 (2.66-8.11), and 10.73 (2.51-45.79), respectively.

• #15 The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population | Scientific Reports

  https://www.nature.com/articles/s41598-017-17181-9

  Two probands (7 and 12 years) suspected of having FH were included in this study, although their cholesterol levels did not exceed the FH cut-off, but they reported a strong family history of hyperlipidemia and MI. […] The clinical phenotype of Lp(a) hyperlipidemia (Lp(a)-HLP) shows great variability, as does FH, however the diagnosis of Lp(a)-HLP can be determined by the plasma concentration of Lp(a). […] Although more than 1,700 variants have been reported in LDLR, there are still novel variants being found, proving the heterogeneity of FH. […] It is recommended that FH-mutation negative subjects with a clinical diagnosis of FH are examined for 12 common polygenic LDL-C raising variants. […] Further and larger studies are needed to more fully elucidate the frequency of FH causing mutations in Iran and to identify common and unique mutations in subjects of Persian ancestry.

• #16 Familial Hypercholesterolemia-Risk-Score: A New Score Predicting Cardiovascular Events and Cardiovascular Mortality in Familial Hypercholesterolemia – PubMed

  https://pubmed.ncbi.nlm.nih.gov/34433300/

  Objective: Familial hypercholesterolemia (FH) is associated with a high risk of premature atherosclerotic cardiovascular disease (ASCVD). However, this risk is highly heterogeneous and current risk prediction algorithms for FH suffer from limitations. The primary objective of this study was to develop a score predicting incident ASCVD events over 10 years in a large multinational FH cohort. The secondary objective was to investigate the prediction of major adverse cardiovascular events and cardiovascular mortality using this score. […] The FH-Risk-Score incorporates 7 clinical variables: sex, age, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, hypertension, smoking, and lipoprotein (a) (Lp(a)) with a Harrell C-index for 10-year ASCVD event of 0.75, which was superior to the SAFEHEART-RE (Spanish Familial Hypercholesterolemia Cohort; 0.69). Subjects with an elevated FH-Risk-Score had decreases in 10-year ASCVD-free survival, 10-year major adverse cardiovascular event-free survival, and 30-year survival for CV mortality compared with the low-risk group, with hazard ratios of 5.52 (3.94-7.73), 4.64 (2.66-8.11), and 10.73 (2.51-45.79), respectively.

• #17 Familial Hypercholesterolemia-Risk-Score: A New Score Predicting Cardiovascular Events and Cardiovascular Mortality in Familial Hypercholesterolemia – PubMed

  https://pubmed.ncbi.nlm.nih.gov/34433300/

  Objective: Familial hypercholesterolemia (FH) is associated with a high risk of premature atherosclerotic cardiovascular disease (ASCVD). However, this risk is highly heterogeneous and current risk prediction algorithms for FH suffer from limitations. The primary objective of this study was to develop a score predicting incident ASCVD events over 10 years in a large multinational FH cohort. The secondary objective was to investigate the prediction of major adverse cardiovascular events and cardiovascular mortality using this score. […] The FH-Risk-Score incorporates 7 clinical variables: sex, age, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, hypertension, smoking, and lipoprotein (a) (Lp(a)) with a Harrell C-index for 10-year ASCVD event of 0.75, which was superior to the SAFEHEART-RE (Spanish Familial Hypercholesterolemia Cohort; 0.69). Subjects with an elevated FH-Risk-Score had decreases in 10-year ASCVD-free survival, 10-year major adverse cardiovascular event-free survival, and 30-year survival for CV mortality compared with the low-risk group, with hazard ratios of 5.52 (3.94-7.73), 4.64 (2.66-8.11), and 10.73 (2.51-45.79), respectively.

• #18 Familial Hypercholesterolemia-Risk-Score: A New Score Predicting Cardiovascular Events and Cardiovascular Mortality in Familial Hypercholesterolemia – PubMed

  https://pubmed.ncbi.nlm.nih.gov/34433300/

  The FH-Risk-Score is a stronger predictor of future ASCVD than the SAFEHEART-RE and was developed in FH subjects with no prior cardiovascular event. Furthermore, the FH-Risk-Score is the first score to predict CV death and could offer personalized cardiovascular risk assessment and treatment for patients with FH. Future studies are required to validate the FH-Risk-Score in different ethnic groups.

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

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

  The study showed that cardiovascular events can be predicted by clinical or genetic diagnostic criteria as they had a similar ability to do it. […] Moreover, another study has shown that FH was associated with increased risk of MACCE, independently of age, sex, smoking, body mass index, hypertension, or diabetes mellitus (HR = 2.30, 95%CI = 1.09 to 4.84, p = 0.028). […] Besides FH diagnosis, LDL-cholesterol level can also increase the risk of cardiovascular events.

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

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9692978/

  Familial hypercholesterolemia (FH) is a common, inherited disorder of cholesterol metabolism. […] Patients can have a homozygous or a heterozygous genotype, which determines the severity of the disease and the onset age of cardiovascular disease (CVD) manifestations. […] FH often leads to the development of early cardiovascular disease and increases the risk of sudden cardiac death. Therefore, early diagnosis and treatment of this disease is very important. […] It is important to say that the timeous lowering of LDL-C levels can reduce the risk of cardiovascular events and mortality in patients with FH. […] The study showed that cardiovascular events can be predicted by clinical or genetic diagnostic criteria as they had a similar ability to do it. […] Moreover, another study has shown that FH was associated with increased risk of MACCE, independently of age, sex, smoking, body mass index, hypertension, or diabetes mellitus (HR = 2.30, 95%CI = 1.09 to 4.84, p = 0.028).

• #21 Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia

  https://www.mdpi.com/2073-4425/15/3/297

  Furthermore, the genetic status of FH has been associated with a 3- to 4-fold increased risk for CAD beyond the classical risk factors. […] Accordingly, genetic backgrounds need to be considered during risk assessment in patients with FH. […] Making an early diagnosis and initiating LDL-lowering therapy are key to improving the prognosis of patients with FH. […] Therefore, it is important to screen patients with FH in real-world settings, given that an early diagnosis leads to a better prognosis and that this is one of the most common inherited diseases. […] We found that the intervention group had a significantly greater reduction in LDL cholesterol levels than the waitlist control group without affecting patient satisfaction. Thus, we now have clinical evidence that providing genetic counseling, and genetic testing is useful for controlling LDL cholesterol, the most important surrogate marker of FH. […] Given that we have a variety of treatments for this common Mendelian disease, even for patients with homozygous FH, now is the prime time to implement genetic counseling and genetic testing for FH in daily clinical practice.

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

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

  Familial hypercholesterolemia (FH) is a common, inherited disorder of cholesterol metabolism. […] Patients can have a homozygous or a heterozygous genotype, which determines the severity of the disease and the onset age of cardiovascular disease (CVD) manifestations. […] FH often leads to the development of early cardiovascular disease and increases the risk of sudden cardiac death. Therefore, early diagnosis and treatment of this disease is very important. […] It is important to say that the timeous lowering of LDL-C levels can reduce the risk of cardiovascular events and mortality in patients with FH. […] Therefore, it is essential to increase awareness of FH in order to reduce the burden of acute coronary syndrome (ACS). […] In a recent meta-analysis (18 studies) it was found that the risk of cardiovascular events (CVE) and death was significantly increased in patients with FH.

• #23 What is Familial Hypercholesterolemia? | American Heart Association

  https://www.heart.org/en/health-topics/cholesterol/genetic-conditions/familial-hypercholesterolemia-fh

  Familial hypercholesterolemia (FH) is an inherited defect in how the body recycles LDL, or “bad” cholesterol. […] High LDL contributes to plaque buildup, leading to a much higher-than-normal risk of coronary heart disease. If left untreated, people with FH have 20 times the risk of developing heart disease. […] FH remains underdiagnosed and undertreated. But people with FH have an excellent prognosis if the condition is identified early and treated. People with HoFH, or suspected HoFH, should start treatment as soon as possible. If not treated early, HoFH can lead to deadly cardiovascular complications in childhood.

• #24 Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia

  https://www.mdpi.com/2073-4425/15/3/297

  Furthermore, the genetic status of FH has been associated with a 3- to 4-fold increased risk for CAD beyond the classical risk factors. […] Accordingly, genetic backgrounds need to be considered during risk assessment in patients with FH. […] Making an early diagnosis and initiating LDL-lowering therapy are key to improving the prognosis of patients with FH. […] Therefore, it is important to screen patients with FH in real-world settings, given that an early diagnosis leads to a better prognosis and that this is one of the most common inherited diseases. […] We found that the intervention group had a significantly greater reduction in LDL cholesterol levels than the waitlist control group without affecting patient satisfaction. Thus, we now have clinical evidence that providing genetic counseling, and genetic testing is useful for controlling LDL cholesterol, the most important surrogate marker of FH. […] Given that we have a variety of treatments for this common Mendelian disease, even for patients with homozygous FH, now is the prime time to implement genetic counseling and genetic testing for FH in daily clinical practice.

• #25 Case-finding and genetic testing for familial hypercholesterolaemia in primary care | Heart

  https://heart.bmj.com/content/107/24/1956

  Familial hypercholesterolaemia (FH) is a common inherited disorder that remains mostly undetected in the general population. […] A significant proportion of patients identified at risk of FH are likely to have polygenic hypercholesterolaemia. […] Electronic case-finding and genetic testing in primary care could improve identification of FH; and the better targeting of patients for specialist assessment. […] Total cholesterol and low-density lipoprotein-cholesterol levels were higher in those patients with FH-causing variants than those with other genetic test results (p=0.010 and p=0.002). […] In patients with no previous diagnosis of FH, from a general primary care population, 26 of 283 completing genetic testing required specialist referral. […] Total cholesterol and LDL levels, as well as statin prescribing, were higher in those patients identified with newly diagnosed genetically confirmed FH.

• #26 Case-finding and genetic testing for familial hypercholesterolaemia in primary care | Heart

  https://heart.bmj.com/content/107/24/1956

  This study demonstrates that undiagnosed FH cases can be identified from the general population in primary care, using electronic case finding and genetic testing. […] The integration of genetic testing with FH case finding in primary care electronic health records could refine current referral pathways, leading to more appropriate use of specialist services for management of genetically confirmed FH and cascade genetic testing to relatives.

• #27 Two Years after Molecular Diagnosis of Familial Hypercholesterolemia: Majority on Cholesterol-Lowering Treatment but a Minority Reaches Treatment Goal | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0009220

  The risk of premature cardiovascular disease in patients with familial hypercholesterolemia (FH) can be profoundly reduced by cholesterol-lowering therapy, and current guidelines for FH advocate ambitious low-density lipoprotein cholesterol (LDL-C) goals. […] The proportion of patients using cholesterol-lowering medication was significantly increased after FH diagnosis through genetic cascade screening. The attained LDL-C levels were lower than those reported in previous surveys on medication use in FH, which could reflect the effect of more stringent lipid target levels. However, only a minority of the medication users reached the LDL-C target. […] In the current study, we found that mean LDL-C levels of individuals, who were untreated at baseline, decreased by 44% with treatment in the two years after molecular diagnosis. This means that cascade screening by molecular diagnosis not only leads to identification of FH but also supports the decision to treat these new FH patients. The decision whether or not to initiate lipid-lowering treatment was found to be dependent on age, and HDL-C and LDL-C levels. The proportion of individuals on cholesterol-lowering medication increased from 51% to 81% during follow-up. In contrast, one fifth of the identified FH subjects never started cholesterol-lowering medication.

• #28 Two Years after Molecular Diagnosis of Familial Hypercholesterolemia: Majority on Cholesterol-Lowering Treatment but a Minority Reaches Treatment Goal | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0009220

  In general, management of FH patients is not successful when measured against the new guideline targets. In fact, a sizable subset of persons with FH does not get pharmacological treatment at all and the treatment target of LDL-C levels 2.5 mmol/L is achieved only in 22% of the treated patients. This failure to meet LDL-C targets may be partly due to the hesitation of some physicians and patients to use most potent available drug regimens. […] In conclusion, the molecular diagnosis of FH leads to an increased proportion of patients that start or intensify cholesterol-lowering medication, and consequently, to a robust decrease in LDL-C levels. The attained LDL-C levels are lower than those reported in a previous survey which could reflect the effect of more stringent lipid target levels. However, only a minority of the patients was treated with a potent drug regimen to reach set targets.

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

  https://pmc.ncbi.nlm.nih.gov/articles/PMC9692978/

  A recent clinical trial that reviewed ODYSSEY OUTCOMES showed that the PCSK9 inhibitor alirocumab reduced the risk of MACE compared with a placebo, with an HR of 0.85. […] A randomized control study that examined the effects of PCSK-9 inhibitor evolocumab, additional to statin treatment, in high-risk patients with stable atherosclerosis showed that this combination reduced the risk of ischemic stroke by 0.4% with no increase in hemorrhage stroke.

• #30 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

  Our study found that 8% of participants classified as definite or probable FH had self-reported premature CAD, which is significantly higher than the unlikely FH individuals (0.4%) (p<0.01). [...] The findings are comparable with those of Gulf FH registry study (Saudi Arabia, Oman, United Arab Emirates, Kuwait, and Bahrain) of 34,366 patients, which estimated a prevalence of FH (definite or probable) of 1:232 (0.43%) in the region. [...] Studies indicate that 60-80% of those with a clinical diagnosis of definite FH and 30% of possible FH individuals have pathogenic variants in at least one of the three FH-causing genes. However in our cohort, we observed the FH variants in 12% of the definite or probable FH and 0.6% of possible FH. [...] Predicting the cause of clinical FH, whether monogenic or polygenic, can help clinicians to select the most effective and inexpensive lipid-lowering medications, representing the best example of the use of genetic information in precision medicine.

• #31

  https://journals.lww.com/co-lipidology/fulltext/2023/12000/genotype_phenotype_correlation_in_a_large_cohort.9.aspx

  The study substantiates the genotype-phenotype correlation in this large pediatric population. […] More than a quarter of patients with a defective variant did not meet the clinical criteria for FH because their LDL-C level was below 4 mmol/l and the diagnosis of FH would be missed in these children. […] Furthermore, first and second degree relatives of children with HeFH carrying a negative variant showed significant higher presence of premature CVD compared to first and second degree relatives of children with HeFH carrying a defective variant, and significantly lower total absence of premature CVD. […] This study further substantiated the genotype-phenotype correlation regarding LDL-C levels and CVD in relatives in this large pediatric population.

• #32 Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia

  https://www.mdpi.com/2073-4425/15/3/297

  Furthermore, the genetic status of FH has been associated with a 3- to 4-fold increased risk for CAD beyond the classical risk factors. […] Accordingly, genetic backgrounds need to be considered during risk assessment in patients with FH. […] Making an early diagnosis and initiating LDL-lowering therapy are key to improving the prognosis of patients with FH. […] Therefore, it is important to screen patients with FH in real-world settings, given that an early diagnosis leads to a better prognosis and that this is one of the most common inherited diseases. […] We found that the intervention group had a significantly greater reduction in LDL cholesterol levels than the waitlist control group without affecting patient satisfaction. Thus, we now have clinical evidence that providing genetic counseling, and genetic testing is useful for controlling LDL cholesterol, the most important surrogate marker of FH. […] Given that we have a variety of treatments for this common Mendelian disease, even for patients with homozygous FH, now is the prime time to implement genetic counseling and genetic testing for FH in daily clinical practice.

• #33

  https://journals.lww.com/co-lipidology/fulltext/2023/12000/genotype_phenotype_correlation_in_a_large_cohort.9.aspx

  Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels and premature cardiovascular disease (CVD). […] A negative/negative variant is associated with a significant higher LDL-C level in HoFH patients than a negative/defective variant, which in itself has a higher LDL-C level than a defective/defective variant. […] Significantly more premature CVD is present in close relatives of children with HeFH with negative variants compared to close relatives of HeFH children with defective variants (75% vs 59%; p 0.001). […] Performing genetic testing and identifying the type of underlying genetic variant is of added value in order to distinguish between pediatric patients with higher risks of premature CVD and to identify those that will benefit most from new types of lipid-lowering therapies.

• #34

  https://journals.lww.com/co-lipidology/fulltext/2023/12000/genotype_phenotype_correlation_in_a_large_cohort.9.aspx

  The study substantiates the genotype-phenotype correlation in this large pediatric population. […] More than a quarter of patients with a defective variant did not meet the clinical criteria for FH because their LDL-C level was below 4 mmol/l and the diagnosis of FH would be missed in these children. […] Furthermore, first and second degree relatives of children with HeFH carrying a negative variant showed significant higher presence of premature CVD compared to first and second degree relatives of children with HeFH carrying a defective variant, and significantly lower total absence of premature CVD. […] This study further substantiated the genotype-phenotype correlation regarding LDL-C levels and CVD in relatives in this large pediatric population.

• #35

  https://journals.lww.com/co-lipidology/fulltext/2023/12000/genotype_phenotype_correlation_in_a_large_cohort.9.aspx

  The study substantiates the genotype-phenotype correlation in this large pediatric population. […] More than a quarter of patients with a defective variant did not meet the clinical criteria for FH because their LDL-C level was below 4 mmol/l and the diagnosis of FH would be missed in these children. […] Furthermore, first and second degree relatives of children with HeFH carrying a negative variant showed significant higher presence of premature CVD compared to first and second degree relatives of children with HeFH carrying a defective variant, and significantly lower total absence of premature CVD. […] This study further substantiated the genotype-phenotype correlation regarding LDL-C levels and CVD in relatives in this large pediatric population.

• #36 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

  Our study found that 8% of participants classified as definite or probable FH had self-reported premature CAD, which is significantly higher than the unlikely FH individuals (0.4%) (p<0.01). [...] The findings are comparable with those of Gulf FH registry study (Saudi Arabia, Oman, United Arab Emirates, Kuwait, and Bahrain) of 34,366 patients, which estimated a prevalence of FH (definite or probable) of 1:232 (0.43%) in the region. [...] Studies indicate that 60-80% of those with a clinical diagnosis of definite FH and 30% of possible FH individuals have pathogenic variants in at least one of the three FH-causing genes. However in our cohort, we observed the FH variants in 12% of the definite or probable FH and 0.6% of possible FH. [...] Predicting the cause of clinical FH, whether monogenic or polygenic, can help clinicians to select the most effective and inexpensive lipid-lowering medications, representing the best example of the use of genetic information in precision medicine.

• #37 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

  Our results confirm the hypothesis that individuals at risk of hypercholesterolemia are highly expected to carry common LDL-C-raising alleles and might have polygenic inheritance. Further, we demonstrate that the 12-SNP LDL-C SNP score can be used to assess polygenic risk in Arab populations, although these SNPs are derived from Caucasians.

• #38 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

  The genetic architecture underlying Familial Hypercholesterolemia (FH) in Middle Eastern Arabs is yet to be fully described, and approaches to assess this from population-wide biobanks are important for public health planning and personalized medicine. […] We identify eight (0.1%) definite, 41 (0.7%) probable and 334 (5.4%) possible FH individuals, estimating a prevalence of definite or probable FH in the Qatari cohort of ~1:125. […] Our results motivate similar studies in population-level biobanks especially those with globally under-represented ancestries and highlight the importance of genetic screening programs for early detection and management of individuals with high FH risk in health systems. […] 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 (Table 2). Thus, we estimated a prevalence of 0.8% (1:125) for definite or probable FH within the QBB cohort.

• #39 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

  The genetic architecture underlying Familial Hypercholesterolemia (FH) in Middle Eastern Arabs is yet to be fully described, and approaches to assess this from population-wide biobanks are important for public health planning and personalized medicine. […] We identify eight (0.1%) definite, 41 (0.7%) probable and 334 (5.4%) possible FH individuals, estimating a prevalence of definite or probable FH in the Qatari cohort of ~1:125. […] Our results motivate similar studies in population-level biobanks especially those with globally under-represented ancestries and highlight the importance of genetic screening programs for early detection and management of individuals with high FH risk in health systems. […] 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 (Table 2). Thus, we estimated a prevalence of 0.8% (1:125) for definite or probable FH within the QBB cohort.

• #40 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

  Our study found that 8% of participants classified as definite or probable FH had self-reported premature CAD, which is significantly higher than the unlikely FH individuals (0.4%) (p<0.01). [...] The findings are comparable with those of Gulf FH registry study (Saudi Arabia, Oman, United Arab Emirates, Kuwait, and Bahrain) of 34,366 patients, which estimated a prevalence of FH (definite or probable) of 1:232 (0.43%) in the region. [...] Studies indicate that 60-80% of those with a clinical diagnosis of definite FH and 30% of possible FH individuals have pathogenic variants in at least one of the three FH-causing genes. However in our cohort, we observed the FH variants in 12% of the definite or probable FH and 0.6% of possible FH. [...] Predicting the cause of clinical FH, whether monogenic or polygenic, can help clinicians to select the most effective and inexpensive lipid-lowering medications, representing the best example of the use of genetic information in precision medicine.

• #41 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

  Our study found that 8% of participants classified as definite or probable FH had self-reported premature CAD, which is significantly higher than the unlikely FH individuals (0.4%) (p<0.01). [...] The findings are comparable with those of Gulf FH registry study (Saudi Arabia, Oman, United Arab Emirates, Kuwait, and Bahrain) of 34,366 patients, which estimated a prevalence of FH (definite or probable) of 1:232 (0.43%) in the region. [...] Studies indicate that 60-80% of those with a clinical diagnosis of definite FH and 30% of possible FH individuals have pathogenic variants in at least one of the three FH-causing genes. However in our cohort, we observed the FH variants in 12% of the definite or probable FH and 0.6% of possible FH. [...] Predicting the cause of clinical FH, whether monogenic or polygenic, can help clinicians to select the most effective and inexpensive lipid-lowering medications, representing the best example of the use of genetic information in precision medicine.

• #42

  https://link.springer.com/article/10.1007/s11886-015-0665-x

  Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that clinically leads to increased low density lipoprotein-cholesterol (LDL-C) levels. As a consequence, FH patients are at high risk for cardiovascular disease (CVD). It is pivotal to diagnose FH at an early age, since lipid lowering results in a decreased risk of cardiovascular complications especially if initiated early, but unfortunately FH is largely underdiagnosed. The CVD outcome differs among heterozygous carriers of FH mutations, who, in general, typically suffer from CVD events in their fourth decade of life, while patients suffering from homozygous FH, the much rarer form of FH, might already have experienced serious cardiovascular complications in the second decade of life or even in childhood. In a significant proportion of FH patients LDL-C goals are not met, despite the use of maximal statin doses and additional lipid-lowering therapies. This underlines the need for additional therapies, and inhibition of PCSK9 and CETP is among the most promising new therapeutic options. In the pre-statin era, patients were considered to be at a 100-fold increased risk for coronary heart disease mortality when aged 20-39. Several studies have been published about the CVD risk in FH patients and the risk ratio (RR) associated with FH range from 3 to 16. When using lipid-lowering therapy, compared to non-FH subject, patients with FH were at a 10-fold risk for CAD. In another study by Huijgen et al., patients with a pathogenic LDLR mutation had a shorter event-free survival than their relatives who did not carry that mutation (HR 3.64, 95 % CI=3.24-4.08, P 0.001). In a recent study by Do and co-workers, exome sequencing was performed in nearly 10,000 genomes of patients with myocardial infarction (MI) at a young age, as well as controls. It was found that carriers of non-synonymous mutations in the gene coding for the LDLR were at 4.2-fold higher increased risk for MI. This risk was even higher in carriers of an LDLR null mutation (13-fold difference).

• #43

  https://link.springer.com/article/10.1007/s11886-015-0665-x

  Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that clinically leads to increased low density lipoprotein-cholesterol (LDL-C) levels. As a consequence, FH patients are at high risk for cardiovascular disease (CVD). It is pivotal to diagnose FH at an early age, since lipid lowering results in a decreased risk of cardiovascular complications especially if initiated early, but unfortunately FH is largely underdiagnosed. The CVD outcome differs among heterozygous carriers of FH mutations, who, in general, typically suffer from CVD events in their fourth decade of life, while patients suffering from homozygous FH, the much rarer form of FH, might already have experienced serious cardiovascular complications in the second decade of life or even in childhood. In a significant proportion of FH patients LDL-C goals are not met, despite the use of maximal statin doses and additional lipid-lowering therapies. This underlines the need for additional therapies, and inhibition of PCSK9 and CETP is among the most promising new therapeutic options. In the pre-statin era, patients were considered to be at a 100-fold increased risk for coronary heart disease mortality when aged 20-39. Several studies have been published about the CVD risk in FH patients and the risk ratio (RR) associated with FH range from 3 to 16. When using lipid-lowering therapy, compared to non-FH subject, patients with FH were at a 10-fold risk for CAD. In another study by Huijgen et al., patients with a pathogenic LDLR mutation had a shorter event-free survival than their relatives who did not carry that mutation (HR 3.64, 95 % CI=3.24-4.08, P 0.001). In a recent study by Do and co-workers, exome sequencing was performed in nearly 10,000 genomes of patients with myocardial infarction (MI) at a young age, as well as controls. It was found that carriers of non-synonymous mutations in the gene coding for the LDLR were at 4.2-fold higher increased risk for MI. This risk was even higher in carriers of an LDLR null mutation (13-fold difference).

• #44 What is Familial Hypercholesterolemia? | American Heart Association

  https://www.heart.org/en/health-topics/cholesterol/genetic-conditions/familial-hypercholesterolemia-fh

  Familial hypercholesterolemia (FH) is an inherited defect in how the body recycles LDL, or “bad” cholesterol. […] High LDL contributes to plaque buildup, leading to a much higher-than-normal risk of coronary heart disease. If left untreated, people with FH have 20 times the risk of developing heart disease. […] FH remains underdiagnosed and undertreated. But people with FH have an excellent prognosis if the condition is identified early and treated. People with HoFH, or suspected HoFH, should start treatment as soon as possible. If not treated early, HoFH can lead to deadly cardiovascular complications in childhood.

• #45 What is Familial Hypercholesterolemia? | American Heart Association

  https://www.heart.org/en/health-topics/cholesterol/genetic-conditions/familial-hypercholesterolemia-fh

  Familial hypercholesterolemia (FH) is an inherited defect in how the body recycles LDL, or “bad” cholesterol. […] High LDL contributes to plaque buildup, leading to a much higher-than-normal risk of coronary heart disease. If left untreated, people with FH have 20 times the risk of developing heart disease. […] FH remains underdiagnosed and undertreated. But people with FH have an excellent prognosis if the condition is identified early and treated. People with HoFH, or suspected HoFH, should start treatment as soon as possible. If not treated early, HoFH can lead to deadly cardiovascular complications in childhood.

• #46 Two Years after Molecular Diagnosis of Familial Hypercholesterolemia: Majority on Cholesterol-Lowering Treatment but a Minority Reaches Treatment Goal | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0009220

  In general, management of FH patients is not successful when measured against the new guideline targets. In fact, a sizable subset of persons with FH does not get pharmacological treatment at all and the treatment target of LDL-C levels 2.5 mmol/L is achieved only in 22% of the treated patients. This failure to meet LDL-C targets may be partly due to the hesitation of some physicians and patients to use most potent available drug regimens. […] In conclusion, the molecular diagnosis of FH leads to an increased proportion of patients that start or intensify cholesterol-lowering medication, and consequently, to a robust decrease in LDL-C levels. The attained LDL-C levels are lower than those reported in a previous survey which could reflect the effect of more stringent lipid target levels. However, only a minority of the patients was treated with a potent drug regimen to reach set targets.

• #47 What is Familial Hypercholesterolemia? | American Heart Association

  https://www.heart.org/en/health-topics/cholesterol/genetic-conditions/familial-hypercholesterolemia-fh

  Familial hypercholesterolemia (FH) is an inherited defect in how the body recycles LDL, or “bad” cholesterol. […] High LDL contributes to plaque buildup, leading to a much higher-than-normal risk of coronary heart disease. If left untreated, people with FH have 20 times the risk of developing heart disease. […] FH remains underdiagnosed and undertreated. But people with FH have an excellent prognosis if the condition is identified early and treated. People with HoFH, or suspected HoFH, should start treatment as soon as possible. If not treated early, HoFH can lead to deadly cardiovascular complications in childhood.

• #48 Two Years after Molecular Diagnosis of Familial Hypercholesterolemia: Majority on Cholesterol-Lowering Treatment but a Minority Reaches Treatment Goal | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0009220

  In general, management of FH patients is not successful when measured against the new guideline targets. In fact, a sizable subset of persons with FH does not get pharmacological treatment at all and the treatment target of LDL-C levels 2.5 mmol/L is achieved only in 22% of the treated patients. This failure to meet LDL-C targets may be partly due to the hesitation of some physicians and patients to use most potent available drug regimens. […] In conclusion, the molecular diagnosis of FH leads to an increased proportion of patients that start or intensify cholesterol-lowering medication, and consequently, to a robust decrease in LDL-C levels. The attained LDL-C levels are lower than those reported in a previous survey which could reflect the effect of more stringent lipid target levels. However, only a minority of the patients was treated with a potent drug regimen to reach set targets.

• #49 Familial Hypercholesterolemia-Risk-Score: A New Score Predicting Cardiovascular Events and Cardiovascular Mortality in Familial Hypercholesterolemia – PubMed

  https://pubmed.ncbi.nlm.nih.gov/34433300/

  The FH-Risk-Score is a stronger predictor of future ASCVD than the SAFEHEART-RE and was developed in FH subjects with no prior cardiovascular event. Furthermore, the FH-Risk-Score is the first score to predict CV death and could offer personalized cardiovascular risk assessment and treatment for patients with FH. Future studies are required to validate the FH-Risk-Score in different ethnic groups.

• #50 The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population | Scientific Reports

  https://www.nature.com/articles/s41598-017-17181-9

  Two probands (7 and 12 years) suspected of having FH were included in this study, although their cholesterol levels did not exceed the FH cut-off, but they reported a strong family history of hyperlipidemia and MI. […] The clinical phenotype of Lp(a) hyperlipidemia (Lp(a)-HLP) shows great variability, as does FH, however the diagnosis of Lp(a)-HLP can be determined by the plasma concentration of Lp(a). […] Although more than 1,700 variants have been reported in LDLR, there are still novel variants being found, proving the heterogeneity of FH. […] It is recommended that FH-mutation negative subjects with a clinical diagnosis of FH are examined for 12 common polygenic LDL-C raising variants. […] Further and larger studies are needed to more fully elucidate the frequency of FH causing mutations in Iran and to identify common and unique mutations in subjects of Persian ancestry.

• #51 Familial Hypercholesterolemia Follow-up: Deterrence/Prevention, Complications, Prognosis

  https://emedicine.medscape.com/article/121298-followup

  Prognosis depends heavily on the extent to which LDLc levels can be reduced. […] Patients with homozygous FH have and extremely limited life expectancy without major medical intervention. […] Treatment of other modifiable risk factors such as smoking, hypertension, and diabetes further decreases the risk of CAD. […] Because long-term prospective studies on subjects with FH are not available, precise predictions regarding improved outcomes are difficult.

• #52 What is Familial Hypercholesterolemia? | American Heart Association

  https://www.heart.org/en/health-topics/cholesterol/genetic-conditions/familial-hypercholesterolemia-fh

  Familial hypercholesterolemia (FH) is an inherited defect in how the body recycles LDL, or “bad” cholesterol. […] High LDL contributes to plaque buildup, leading to a much higher-than-normal risk of coronary heart disease. If left untreated, people with FH have 20 times the risk of developing heart disease. […] FH remains underdiagnosed and undertreated. But people with FH have an excellent prognosis if the condition is identified early and treated. People with HoFH, or suspected HoFH, should start treatment as soon as possible. If not treated early, HoFH can lead to deadly cardiovascular complications in childhood.

• #53 Genetic Counseling and Genetic Testing for Familial Hypercholesterolemia

  https://www.mdpi.com/2073-4425/15/3/297

  Furthermore, the genetic status of FH has been associated with a 3- to 4-fold increased risk for CAD beyond the classical risk factors. […] Accordingly, genetic backgrounds need to be considered during risk assessment in patients with FH. […] Making an early diagnosis and initiating LDL-lowering therapy are key to improving the prognosis of patients with FH. […] Therefore, it is important to screen patients with FH in real-world settings, given that an early diagnosis leads to a better prognosis and that this is one of the most common inherited diseases. […] We found that the intervention group had a significantly greater reduction in LDL cholesterol levels than the waitlist control group without affecting patient satisfaction. Thus, we now have clinical evidence that providing genetic counseling, and genetic testing is useful for controlling LDL cholesterol, the most important surrogate marker of FH. […] Given that we have a variety of treatments for this common Mendelian disease, even for patients with homozygous FH, now is the prime time to implement genetic counseling and genetic testing for FH in daily clinical practice.

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