Familial Hypercholesterolemia is a genetic disorder that is inherited in an autosomal dominant pattern and involves elevated levels of LDL-C, increases the risk of cardiovascular diseases before the age of 65 years.
It is an inherited disease caused by mutation in the LDLR gene but may also show mutations in the APOB and PCSK9 genes in cholesterol homeostasis.
Epidemiology
Heterozygous FH is the most frequent monogenic, autosomal dominant disease in human population. It occurs one in every population of 300 people, while Homozygous FH occurs one in every 160,000 to 500,000 people. Now, the prevalence is, by 18 times higher in patients with atherosclerosis of cardiovascular system and respectively, the prevalence of new cases of atherosclerosis are almost 21 times more frequent in patients with premature ischemic disease. This disease is more common in Dutch Afrikaners, French Canadians, Ashkenazi Jews, Christian Lebanese and some groups of Tunisians. There is gene dosing effect and individuals who are homozygotic are more affected as compared to the heterozygotic individuals.
Anatomy
Pathophysiology
Genetic Mutations: FH involves a gene that makes the low-density lipoprotein cholesterol receptor protein, also known as the Low-Density Lipoprotein Receptor or LDLR. They can also develop in other genes such as APOB or apolipoprotein B, or PCSK9 or proprotein convertase subtilisin/kexin type 9.
Decreased LDL Receptor Function: In FH, the mutated protein results in or reduced effectiveness of the LDL receptors on the surface of liver cells. This makes the liver less effective in flushing out cholesterol from the blood products especially the low-density cholesterol.
Elevated Plasma LDL Levels: Hence, whereas the clearance efficiency of cholesterol reduces and is transported by the LDL particle, density of LDL is much higher in the plasma.
Atherosclerosis Development: The excess LDL cholesterol can infiltrate the arterial walls, where it undergoes oxidation. This process causes inflammatory response and formation of atherosclerotic plaques that occur in cardiovascular diseases.
Etiology
LDL Receptor Gene Mutations: The excess LDL cholesterol molecules can penetrate the arterial walls where they get oxidized. This leads to inflammation and generation of atherosclerotic plaques that characterize cardiovascular diseases.Â
APOB Gene Mutations: Mutations in the APOB gene can also result in FH. This gene encodes apolipoprotein B, a component of LDL. Altered genes can impact the function of LDL and its interaction with its receptor in a cell. Alterations in the APOB gene may affect the attachment of the LDL to its receptor. Â
PCSK9 Gene Mutations: Variations in the PCSK9 gene also lead to increase of LDL receptors degradation, thus decreasing the efficacy of LDL uptake in the blood even further. Â
Multigenic Factors: Some of the cases of the FH development can be observed if a person has mutations in several genes that regulate lipid levels and their transportation.Â
Genetics
Prognostic Factors
Genetic Mutations: LDLR, APOB or PCSK9 can affect the outcome of the disease and/or the response to a pharmaceutical treatment. Cholesterol Levels: Specifically, total cholesterol and LDL cholesterol levels are fundamental to the baseline measure. Moreover, there are evident relations between higher levels and cardiac risks.
Age at Diagnosis: Pre-emptive diagnosis can mostly be made at an early stage, and this is followed by immediate treatment to prevent adverse results in the future.
Treatment Adherence: Consistent use of lipid-lowering agents such as statins and PCSK9 inhibitors is one of the parameters that influences cholesterol and cardiovascular risk most significantly.
Clinical History
Age Group:
Many individuals may not be diagnosed until later in life, People specifically in their thirties or forties, especially when they experience cardiovascular problems or raised cholesterol levels during tests.
Heterozygous FH: In some cases, the disease may not manifest in symptoms until adulthood. Such aspects like tendon xanthomas or corneal arcus, and patients may develop premature coronary artery disease in their relative early age, of between 30s and 40s.
Homozygous FH: This is even worse and develops earlier and may manifest in childhood. Patients may have complications of atherosclerosis and cardiovascular diseases during teenage or early adult age. Cutaneous manifestation such as xanthomas were more pronounced and developed earlier.
Acute Presentation: Inflammatory processes also may be worsened by certain treatment regimens and may present acutely with cardiovascular events such as a myocardial infarction or angina if the patient has untreated high cholesterol.
Differential Diagnoses
Polygenic HypercholesterolemiaÂ
HypothyroidismÂ
Nephrotic SyndromeÂ
Diabetes MellitusÂ
Laboratory Studies
Imaging Studies
Procedures
Histologic Findings
Staging
Treatment Paradigm
Lifestyle Interventions
Diet: Healthy diet with lowered saturated fats, trans fats, and cholesterol. Exercise: Engaged in regular physical activity to enhance cardiovascular status. Weight Management: Maintaining or obtaining a desirable weight. Smoking Cessation: Quit smoking to avoid the risk of cardiovascular disease. Pharmacotherapy Statins: Statins are usually given to decrease the LDL cholesterol. Ezetimibe: It is often used in conjunction with statins for patients who require additional lowering of LDL. PCSK9 Inhibitors: Patients who are at high risk for future cardiovascular events but have not been adequately lowered on statins with ezetimibe may be prescribed evolocumab or alirocumab. Fibrates: Added if there is elevation in triglycerides Monitoring Lipid Profiles: The determinations of LDL are needed to follow the effectiveness of the treatment. Cardiovascular Risk Assessment: Continuously evaluate for increased cardiovascular risk and need for increased intensity of therapy. Genetic Counselling Testing: Family members may be tested for FH and genetic testing to confirm a diagnosis Family Education: Educating the family about the disease and management strategies
Special Considerations Pediatric Patients: Children and adolescents have different guidelines and may be treated early and monitored earlier Pregnancy: The use of statin in pregnancy is contraindicated; alternative treatments are considered.
Binds bile acids in the intestine, preventing their reabsorption. This leads to increased cholesterol conversion to bile acids and reduced serum cholesterol levels.
Can reduce LDL cholesterol levels but may be less effective than statins. Often used as an adjunct therapy.
Like cholestyramine, it binds to bile acids, leading to increased cholesterol conversion.
Often better tolerated than cholestyramine and may have a more favorable side effect profile.
Use of ANGPTL Inhibitors in treating Familial Hypercholesterolemia
Evinacumab
Evinacumab inhibits ANGPTL3, leading to increased lipoprotein lipase activity, which enhances the clearance of triglycerides and low-density lipoprotein (LDL) cholesterol from the bloodstream.
It is approved for use in adults and children aged 12 and older with homozygous familial hypercholesterolemia (HoFH) or who have had an inadequate response to other lipid-lowering treatments.
Effectiveness of PCSK9 Inhibitors in treating Familial Hypercholesterolemia
Evolocumab
Binds to PCSK9, preventing it from degrading LDL receptors in the liver, thereby increasing LDL receptor recycling and lowering LDL cholesterol levels.
Clinical trials show significant reductions in LDL cholesterol, often exceeding 50% from baseline in patients with FH.
Alirocumab
Like evolocumab, it inhibits PCSK9, leading to increased LDL receptor availability and lower LDL levels.
Demonstrated comparable LDL cholesterol reductions, with significant effects observed in FH patients.
Diagnosis: Clinical screening check (lipid or cholesterol level, family history).
Genetic test to confirm mutations in LDL receptor, PCSK9 or in other genes. Initial Management
Lifestyle modifications (diet, exercise, smoking cessation).
Initiation with statin, which remains the first choice for lowering serum LDL.
Initiation of additional lipid-lowering drugs such as ezetimibe or PCSK9 inhibitors if LDL is not lowered. Monitoring and Follow-Up:
Regular follow-up visits to monitor the lipid levels and upgrade the therapy as appropriate.
Risk assessment for cardiovascular risk factors and possible early-onset atherosclerotic cardiovascular disease (ASCVD). Intensified Management:
Patients with highly elevated cholesterol levels or those who cannot meet goals with standard therapy should be assessed for intensification therapies, such as apheresis.
Periodic surveillance for complications of FH, including cardiovascular disease. Family Screening:
Screening of relatives to diagnose other family members with FH or potentially before the onset of clinical symptoms.
Genetic counselling in affected families. Maintenance Care:
Continued lifestyle support and medication adherence.
It is an evaluation of cardiovascular risk through regular reassessment and modification of the approach towards management.
Altoprev (Extended release):
10 to 60 mg orally every night at bedtime
Mevacor (Immediate release):
Initial dose: 20 mg orally once daily with an evening meal
may divide the daily dose twice a day;
alter dose at 4-week intervals if necessary; maximum daily dose: 80 mg
Dose Adjustments
Dosing Considerations
Danazol, diltiazem, or verapamil coadministration: Do not take over 20 mg of lovastatin daily.
Amiodarone coadministration: Do not take more than 40 mg of lovastatin daily.
Avoid drinking significant amounts of grapefruit juice (more than 1 quart daily).
Management of overdose
Overdosing on the medicine may cause adverse effects such as peripheral neuropathy, diarrhea, higher LFTs, myopathy, rhabdomyolysis, increased K+, and eye lens opacities.
Supportive care is provided.
Dosing Modifications
Renal Impairment
Renal impairment (severe; CrCl>30 mL/min): Doses more than 20 mg/day should be carefully assessed and, if required, administered cautiously.
For >10 years old:
Take an initial dose of 10 mg orally one time daily in evening
Take a maintenance dose of 10 to 40 mg orally one time daily in evening
Daily dose should not be more than 40 mg
Familial Hypercholesterolemia is a genetic disorder that is inherited in an autosomal dominant pattern and involves elevated levels of LDL-C, increases the risk of cardiovascular diseases before the age of 65 years.
It is an inherited disease caused by mutation in the LDLR gene but may also show mutations in the APOB and PCSK9 genes in cholesterol homeostasis.
Heterozygous FH is the most frequent monogenic, autosomal dominant disease in human population. It occurs one in every population of 300 people, while Homozygous FH occurs one in every 160,000 to 500,000 people. Now, the prevalence is, by 18 times higher in patients with atherosclerosis of cardiovascular system and respectively, the prevalence of new cases of atherosclerosis are almost 21 times more frequent in patients with premature ischemic disease. This disease is more common in Dutch Afrikaners, French Canadians, Ashkenazi Jews, Christian Lebanese and some groups of Tunisians. There is gene dosing effect and individuals who are homozygotic are more affected as compared to the heterozygotic individuals.
Genetic Mutations: FH involves a gene that makes the low-density lipoprotein cholesterol receptor protein, also known as the Low-Density Lipoprotein Receptor or LDLR. They can also develop in other genes such as APOB or apolipoprotein B, or PCSK9 or proprotein convertase subtilisin/kexin type 9.
Decreased LDL Receptor Function: In FH, the mutated protein results in or reduced effectiveness of the LDL receptors on the surface of liver cells. This makes the liver less effective in flushing out cholesterol from the blood products especially the low-density cholesterol.
Elevated Plasma LDL Levels: Hence, whereas the clearance efficiency of cholesterol reduces and is transported by the LDL particle, density of LDL is much higher in the plasma.
Atherosclerosis Development: The excess LDL cholesterol can infiltrate the arterial walls, where it undergoes oxidation. This process causes inflammatory response and formation of atherosclerotic plaques that occur in cardiovascular diseases.
LDL Receptor Gene Mutations: The excess LDL cholesterol molecules can penetrate the arterial walls where they get oxidized. This leads to inflammation and generation of atherosclerotic plaques that characterize cardiovascular diseases.Â
APOB Gene Mutations: Mutations in the APOB gene can also result in FH. This gene encodes apolipoprotein B, a component of LDL. Altered genes can impact the function of LDL and its interaction with its receptor in a cell. Alterations in the APOB gene may affect the attachment of the LDL to its receptor. Â
PCSK9 Gene Mutations: Variations in the PCSK9 gene also lead to increase of LDL receptors degradation, thus decreasing the efficacy of LDL uptake in the blood even further. Â
Multigenic Factors: Some of the cases of the FH development can be observed if a person has mutations in several genes that regulate lipid levels and their transportation.Â
Genetic Mutations: LDLR, APOB or PCSK9 can affect the outcome of the disease and/or the response to a pharmaceutical treatment. Cholesterol Levels: Specifically, total cholesterol and LDL cholesterol levels are fundamental to the baseline measure. Moreover, there are evident relations between higher levels and cardiac risks.
Age at Diagnosis: Pre-emptive diagnosis can mostly be made at an early stage, and this is followed by immediate treatment to prevent adverse results in the future.
Treatment Adherence: Consistent use of lipid-lowering agents such as statins and PCSK9 inhibitors is one of the parameters that influences cholesterol and cardiovascular risk most significantly.
Age Group:
Many individuals may not be diagnosed until later in life, People specifically in their thirties or forties, especially when they experience cardiovascular problems or raised cholesterol levels during tests.
Heterozygous FH: In some cases, the disease may not manifest in symptoms until adulthood. Such aspects like tendon xanthomas or corneal arcus, and patients may develop premature coronary artery disease in their relative early age, of between 30s and 40s.
Homozygous FH: This is even worse and develops earlier and may manifest in childhood. Patients may have complications of atherosclerosis and cardiovascular diseases during teenage or early adult age. Cutaneous manifestation such as xanthomas were more pronounced and developed earlier.
Acute Presentation: Inflammatory processes also may be worsened by certain treatment regimens and may present acutely with cardiovascular events such as a myocardial infarction or angina if the patient has untreated high cholesterol.
Polygenic HypercholesterolemiaÂ
HypothyroidismÂ
Nephrotic SyndromeÂ
Diabetes MellitusÂ
Lifestyle Interventions
Diet: Healthy diet with lowered saturated fats, trans fats, and cholesterol. Exercise: Engaged in regular physical activity to enhance cardiovascular status. Weight Management: Maintaining or obtaining a desirable weight. Smoking Cessation: Quit smoking to avoid the risk of cardiovascular disease. Pharmacotherapy Statins: Statins are usually given to decrease the LDL cholesterol. Ezetimibe: It is often used in conjunction with statins for patients who require additional lowering of LDL. PCSK9 Inhibitors: Patients who are at high risk for future cardiovascular events but have not been adequately lowered on statins with ezetimibe may be prescribed evolocumab or alirocumab. Fibrates: Added if there is elevation in triglycerides Monitoring Lipid Profiles: The determinations of LDL are needed to follow the effectiveness of the treatment. Cardiovascular Risk Assessment: Continuously evaluate for increased cardiovascular risk and need for increased intensity of therapy. Genetic Counselling Testing: Family members may be tested for FH and genetic testing to confirm a diagnosis Family Education: Educating the family about the disease and management strategies
Special Considerations Pediatric Patients: Children and adolescents have different guidelines and may be treated early and monitored earlier Pregnancy: The use of statin in pregnancy is contraindicated; alternative treatments are considered.
Endocrinology, Metabolism
Dietary Changes:
Healthy Heart Diet: Fruits, vegetables, carbohydrate sources, lean foods like, meats, and fats like those found in fish, nuts are encouraged.
Limit Saturated and Trans Fats: Limit red meat any type of processed food.
Increase Fiber: Fiber like oats, beans, and fruits has been shown to reduce cholesterol concentration.
Weight Management: Cholesterol Management: It is imperative to maintain correct weight as this has ability to maintain cholesterol levels.
Regular Screening and Medication: Look for follow up of lipid profile.
Medication Adherence: Ensure access to prescribed statins or other lipid-lowering medications, as needed.
Binds bile acids in the intestine, preventing their reabsorption. This leads to increased cholesterol conversion to bile acids and reduced serum cholesterol levels.
Can reduce LDL cholesterol levels but may be less effective than statins. Often used as an adjunct therapy.
Like cholestyramine, it binds to bile acids, leading to increased cholesterol conversion.
Often better tolerated than cholestyramine and may have a more favorable side effect profile.
Endocrinology, Metabolism
Evinacumab
Evinacumab inhibits ANGPTL3, leading to increased lipoprotein lipase activity, which enhances the clearance of triglycerides and low-density lipoprotein (LDL) cholesterol from the bloodstream.
It is approved for use in adults and children aged 12 and older with homozygous familial hypercholesterolemia (HoFH) or who have had an inadequate response to other lipid-lowering treatments.
Endocrinology, Metabolism
Evolocumab
Binds to PCSK9, preventing it from degrading LDL receptors in the liver, thereby increasing LDL receptor recycling and lowering LDL cholesterol levels.
Clinical trials show significant reductions in LDL cholesterol, often exceeding 50% from baseline in patients with FH.
Alirocumab
Like evolocumab, it inhibits PCSK9, leading to increased LDL receptor availability and lower LDL levels.
Demonstrated comparable LDL cholesterol reductions, with significant effects observed in FH patients.
Endocrinology, Metabolism
Phases of management
Diagnosis: Clinical screening check (lipid or cholesterol level, family history).
Genetic test to confirm mutations in LDL receptor, PCSK9 or in other genes. Initial Management
Lifestyle modifications (diet, exercise, smoking cessation).
Initiation with statin, which remains the first choice for lowering serum LDL.
Initiation of additional lipid-lowering drugs such as ezetimibe or PCSK9 inhibitors if LDL is not lowered. Monitoring and Follow-Up:
Regular follow-up visits to monitor the lipid levels and upgrade the therapy as appropriate.
Risk assessment for cardiovascular risk factors and possible early-onset atherosclerotic cardiovascular disease (ASCVD). Intensified Management:
Patients with highly elevated cholesterol levels or those who cannot meet goals with standard therapy should be assessed for intensification therapies, such as apheresis.
Periodic surveillance for complications of FH, including cardiovascular disease. Family Screening:
Screening of relatives to diagnose other family members with FH or potentially before the onset of clinical symptoms.
Genetic counselling in affected families. Maintenance Care:
Continued lifestyle support and medication adherence.
It is an evaluation of cardiovascular risk through regular reassessment and modification of the approach towards management.
Familial Hypercholesterolemia is a genetic disorder that is inherited in an autosomal dominant pattern and involves elevated levels of LDL-C, increases the risk of cardiovascular diseases before the age of 65 years.
It is an inherited disease caused by mutation in the LDLR gene but may also show mutations in the APOB and PCSK9 genes in cholesterol homeostasis.
Heterozygous FH is the most frequent monogenic, autosomal dominant disease in human population. It occurs one in every population of 300 people, while Homozygous FH occurs one in every 160,000 to 500,000 people. Now, the prevalence is, by 18 times higher in patients with atherosclerosis of cardiovascular system and respectively, the prevalence of new cases of atherosclerosis are almost 21 times more frequent in patients with premature ischemic disease. This disease is more common in Dutch Afrikaners, French Canadians, Ashkenazi Jews, Christian Lebanese and some groups of Tunisians. There is gene dosing effect and individuals who are homozygotic are more affected as compared to the heterozygotic individuals.
Genetic Mutations: FH involves a gene that makes the low-density lipoprotein cholesterol receptor protein, also known as the Low-Density Lipoprotein Receptor or LDLR. They can also develop in other genes such as APOB or apolipoprotein B, or PCSK9 or proprotein convertase subtilisin/kexin type 9.
Decreased LDL Receptor Function: In FH, the mutated protein results in or reduced effectiveness of the LDL receptors on the surface of liver cells. This makes the liver less effective in flushing out cholesterol from the blood products especially the low-density cholesterol.
Elevated Plasma LDL Levels: Hence, whereas the clearance efficiency of cholesterol reduces and is transported by the LDL particle, density of LDL is much higher in the plasma.
Atherosclerosis Development: The excess LDL cholesterol can infiltrate the arterial walls, where it undergoes oxidation. This process causes inflammatory response and formation of atherosclerotic plaques that occur in cardiovascular diseases.
LDL Receptor Gene Mutations: The excess LDL cholesterol molecules can penetrate the arterial walls where they get oxidized. This leads to inflammation and generation of atherosclerotic plaques that characterize cardiovascular diseases.Â
APOB Gene Mutations: Mutations in the APOB gene can also result in FH. This gene encodes apolipoprotein B, a component of LDL. Altered genes can impact the function of LDL and its interaction with its receptor in a cell. Alterations in the APOB gene may affect the attachment of the LDL to its receptor. Â
PCSK9 Gene Mutations: Variations in the PCSK9 gene also lead to increase of LDL receptors degradation, thus decreasing the efficacy of LDL uptake in the blood even further. Â
Multigenic Factors: Some of the cases of the FH development can be observed if a person has mutations in several genes that regulate lipid levels and their transportation.Â
Genetic Mutations: LDLR, APOB or PCSK9 can affect the outcome of the disease and/or the response to a pharmaceutical treatment. Cholesterol Levels: Specifically, total cholesterol and LDL cholesterol levels are fundamental to the baseline measure. Moreover, there are evident relations between higher levels and cardiac risks.
Age at Diagnosis: Pre-emptive diagnosis can mostly be made at an early stage, and this is followed by immediate treatment to prevent adverse results in the future.
Treatment Adherence: Consistent use of lipid-lowering agents such as statins and PCSK9 inhibitors is one of the parameters that influences cholesterol and cardiovascular risk most significantly.
Age Group:
Many individuals may not be diagnosed until later in life, People specifically in their thirties or forties, especially when they experience cardiovascular problems or raised cholesterol levels during tests.
Heterozygous FH: In some cases, the disease may not manifest in symptoms until adulthood. Such aspects like tendon xanthomas or corneal arcus, and patients may develop premature coronary artery disease in their relative early age, of between 30s and 40s.
Homozygous FH: This is even worse and develops earlier and may manifest in childhood. Patients may have complications of atherosclerosis and cardiovascular diseases during teenage or early adult age. Cutaneous manifestation such as xanthomas were more pronounced and developed earlier.
Acute Presentation: Inflammatory processes also may be worsened by certain treatment regimens and may present acutely with cardiovascular events such as a myocardial infarction or angina if the patient has untreated high cholesterol.
Polygenic HypercholesterolemiaÂ
HypothyroidismÂ
Nephrotic SyndromeÂ
Diabetes MellitusÂ
Lifestyle Interventions
Diet: Healthy diet with lowered saturated fats, trans fats, and cholesterol. Exercise: Engaged in regular physical activity to enhance cardiovascular status. Weight Management: Maintaining or obtaining a desirable weight. Smoking Cessation: Quit smoking to avoid the risk of cardiovascular disease. Pharmacotherapy Statins: Statins are usually given to decrease the LDL cholesterol. Ezetimibe: It is often used in conjunction with statins for patients who require additional lowering of LDL. PCSK9 Inhibitors: Patients who are at high risk for future cardiovascular events but have not been adequately lowered on statins with ezetimibe may be prescribed evolocumab or alirocumab. Fibrates: Added if there is elevation in triglycerides Monitoring Lipid Profiles: The determinations of LDL are needed to follow the effectiveness of the treatment. Cardiovascular Risk Assessment: Continuously evaluate for increased cardiovascular risk and need for increased intensity of therapy. Genetic Counselling Testing: Family members may be tested for FH and genetic testing to confirm a diagnosis Family Education: Educating the family about the disease and management strategies
Special Considerations Pediatric Patients: Children and adolescents have different guidelines and may be treated early and monitored earlier Pregnancy: The use of statin in pregnancy is contraindicated; alternative treatments are considered.
Endocrinology, Metabolism
Dietary Changes:
Healthy Heart Diet: Fruits, vegetables, carbohydrate sources, lean foods like, meats, and fats like those found in fish, nuts are encouraged.
Limit Saturated and Trans Fats: Limit red meat any type of processed food.
Increase Fiber: Fiber like oats, beans, and fruits has been shown to reduce cholesterol concentration.
Weight Management: Cholesterol Management: It is imperative to maintain correct weight as this has ability to maintain cholesterol levels.
Regular Screening and Medication: Look for follow up of lipid profile.
Medication Adherence: Ensure access to prescribed statins or other lipid-lowering medications, as needed.
Binds bile acids in the intestine, preventing their reabsorption. This leads to increased cholesterol conversion to bile acids and reduced serum cholesterol levels.
Can reduce LDL cholesterol levels but may be less effective than statins. Often used as an adjunct therapy.
Like cholestyramine, it binds to bile acids, leading to increased cholesterol conversion.
Often better tolerated than cholestyramine and may have a more favorable side effect profile.
Endocrinology, Metabolism
Evinacumab
Evinacumab inhibits ANGPTL3, leading to increased lipoprotein lipase activity, which enhances the clearance of triglycerides and low-density lipoprotein (LDL) cholesterol from the bloodstream.
It is approved for use in adults and children aged 12 and older with homozygous familial hypercholesterolemia (HoFH) or who have had an inadequate response to other lipid-lowering treatments.
Endocrinology, Metabolism
Evolocumab
Binds to PCSK9, preventing it from degrading LDL receptors in the liver, thereby increasing LDL receptor recycling and lowering LDL cholesterol levels.
Clinical trials show significant reductions in LDL cholesterol, often exceeding 50% from baseline in patients with FH.
Alirocumab
Like evolocumab, it inhibits PCSK9, leading to increased LDL receptor availability and lower LDL levels.
Demonstrated comparable LDL cholesterol reductions, with significant effects observed in FH patients.
Endocrinology, Metabolism
Phases of management
Diagnosis: Clinical screening check (lipid or cholesterol level, family history).
Genetic test to confirm mutations in LDL receptor, PCSK9 or in other genes. Initial Management
Lifestyle modifications (diet, exercise, smoking cessation).
Initiation with statin, which remains the first choice for lowering serum LDL.
Initiation of additional lipid-lowering drugs such as ezetimibe or PCSK9 inhibitors if LDL is not lowered. Monitoring and Follow-Up:
Regular follow-up visits to monitor the lipid levels and upgrade the therapy as appropriate.
Risk assessment for cardiovascular risk factors and possible early-onset atherosclerotic cardiovascular disease (ASCVD). Intensified Management:
Patients with highly elevated cholesterol levels or those who cannot meet goals with standard therapy should be assessed for intensification therapies, such as apheresis.
Periodic surveillance for complications of FH, including cardiovascular disease. Family Screening:
Screening of relatives to diagnose other family members with FH or potentially before the onset of clinical symptoms.
Genetic counselling in affected families. Maintenance Care:
Continued lifestyle support and medication adherence.
It is an evaluation of cardiovascular risk through regular reassessment and modification of the approach towards management.
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