Materiały źródłowe

• #1 Current Treatment of Familial Hypercholesterolaemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6159444/

  Familial hypercholesterolaemia is an autosomal-dominant disorder associated with mutations in the LDL receptor gene resulting in markedly elevated plasma low-density lipoprotein cholesterol levels. […] Early diagnosis and treatment of FH is paramount to reduce the risk of premature atherosclerotic cardiovascular disease and death. The goal of treatment is to reduce LDL-C by 50 % from baseline levels with lifestyle modification, pharmacologic lipid-lowering therapy, LDL apheresis and in rare cases, liver transplantation. […] Pharmacologic treatment ranges from statin medications to newer agents such as lomitapide, mipomersin and PCSK9 inhibitors. […] Combination therapy is frequently required to achieve goal lipoprotein level reductions and prevent complications. […] The goal of treatment is to reduce LDL-C by 50 % from baseline levels.

• #1 Familial Hypercholesterolemia – Treatment | CardioSmart – American College of Cardiology

  http://www.cardiosmart.org/topics/familial-hypercholesterolemia/treatment

  Early and stepped-up treatment for familial hypercholesterolemia (FH) is needed to lower LDL cholesterol and, in turn, lower the chance of a heart attack, stroke or early cardiovascular death. […] Without treatment, LDL cholesterol levels and risks to the heart and brain will be very high. So treatment for FH is lifelong. A first step is to cut LDL cholesterol by at least half. Overall, the main goal is to get your LDL below 100 mg/dL if you have FH and no other risk factors. If you have other risk factors, then the goal will be to get LDL to under 70 mg/dL. […] People with homozygous familial hypercholesterolemia (HoFH) will need even more intense therapy. […] A healthy diet, regular exercise, weight loss and not smoking are known to lower cholesterol and carry a host of other health benefits. While these changes are essential for good health, lifestyle changes alone often aren’t enough with FH and need to be coupled with medications and other therapies.

• #1 Familial hypercholesterolemia > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/familial-hypercholesterolemia

  Treatments include medications and apheresis […] The good news is that most FHs can be treated and managed well with cholesterol-lowering medications and regular screening checkups. […] At Yale Medicine, our physicians work with patients diagnosed with FH closely to ensure they have the most personalized medication and treatment program possible. […] For adults with FH, a treatment plan usually includes one of several types of cholesterol-lowering medication and lifestyle changes that include a healthy diet and exercise. Children diagnosed with FH can be safely prescribed statins from age 10 and up. […] The most common kinds of treatments for adults (and children 10 and over) include the following: Statins. This class of drugs reduces LDL cholesterol levels. Statins (in combination with diet and exercise) are usually prescribed as the first treatment option.

• #1 Familial hypercholesterolemia – Diagnosis & treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/familial-hypercholesterolemia/diagnosis-treatment/drc-20353757

  Familial hypercholesterolemia treatment focuses on reducing the extremely high levels of LDL (bad) cholesterol. This helps lower the risk of heart attack and death. […] Most people with familial hypercholesteremia will need to take more than one medication to control their LDL cholesterol levels. Options include: […] Statins. These drugs block a substance the liver needs to make cholesterol. Examples include atorvastatin (Lipitor), fluvastatin (Lescol XL), lovastatin (Altoprev), pitavastatin (Livalo), pravastatin, rosuvastatin (Crestor) and simvastatin (Zocor). […] Ezetimibe (Zetia). This drug limits the absorption of cholesterol contained in the food you eat. If statins don’t reduce cholesterol enough, doctors often suggest adding ezetimibe. […] PCSK9 inhibitors. These newer drugs alirocumab (Praluent) and evolocumab (Repatha) help the liver absorb more LDL cholesterol, which lowers the amount of cholesterol circulating in the blood. They’re injected under the skin every few weeks and are very expensive. […] In severe cases, people with familial hypercholesterolemia may also need to periodically undergo a procedure that filters the excess cholesterol from their blood. Some may need liver transplants.

• #1 Recommendations | Familial hypercholesterolaemia: identification and management | Guidance | NICE

  https://www.nice.org.uk/guidance/cg71/chapter/recommendations

  When offering lipid-modifying drug therapy to adults with FH, healthcare professionals should inform the person that this treatment should be lifelong. […] Offer a high-intensity statin with the lowest acquisition cost as the initial treatment for all adults with FH and aim for at least a 50% reduction in LDLC concentration from the baseline measurement. […] The dose of statin should be increased to the maximum licensed or tolerated dose to achieve a recommended reduction in LDLC concentration of greater than 50% from baseline (that is, LDLC concentration before treatment). […] Ezetimibe monotherapy is recommended as an option for treating primary heterozygous-familial hypercholesterolaemia in adults in whom initial statin therapy is contraindicated. […] Ezetimibe monotherapy is recommended as an option for treating primary heterozygous-familial hypercholesterolaemia in adults who cannot tolerate statin therapy.

• #1 Current Treatment of Familial Hypercholesterolaemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6159444/

  Lifestyle modification, lipid-lowering therapy, LDL apheresis and in rare cases, liver transplant are the cornerstones of LDL-C lowering in patients with FH. […] Statins are first line pharmacologic therapy agents in the treatment of FH; they reduce cardiovascular mortality even in receptor-negative patients. […] Current guidelines recommend maximal statin therapy to reduce LDL-C levels by at least 50 % from baseline. […] Despite aggressive statin therapy, in the majority of patients with FH, even the highest doses of the most potent statins do not yield more than a 50 % LDL-C reduction. In these patients a combination of lipid-modifying agents enhances efficacy. […] Ezetimibe is a selective cholesterol absorption inhibitor that blocks the absorption of dietary cholesterol and delivery of intestinal cholesterol to the liver resulting in up-regulation of hepatic LDL receptors and enhanced clearance of LDL particles from the circulation.

• #1 Existing and emerging therapies for the treatment of familial hypercholesterolemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8065289/

  This review discusses the use of existing cholesterol-lowering therapies and the challenges in achieving minimal acceptable LDL-cholesterol goals with available therapies in adults with homozygous FH (HoFH) and heterozygous FH (HeFH). Special emphasis is devoted to the biology, genetics, and clinical studies with inhibitors of angiopoietin-like protein 3 (ANGPLT3). […] Statins represent first-line therapy for lowering LDL-cholesterol in adult patients with FH. These recommendations are based on extensive clinical trial evidence in patients at risk for a cardiovascular event and in patients with ASCVD. […] Ezetimibe is the most commonly recommended second-line therapy for lowering LDL-cholesterol. This therapy inhibits cholesterol transport in the jejunum by blocking the Niemann-Pick C1-like protein and reduce cholesterol availability to the liver.

• #1 Familial Hypercholesterolemia Treatment & Management: Medical Care, Risk Categories, Treatment Recommendations for Homozygous FH

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

  In pediatric heterozygous FH, a study suggests that rosuvastatin slows atherosclerotic progression. […] In February 2020, the FDA approved bempedoic acid (Nexletol), the first adenosine triphosphate-citrate lyase (ACL) inhibitor. […] Bempedoic acid is indicated for adults with heterozygous familial hypercholesterolemia or established atherosclerotic cardiovascular disease when additional LDLc reduction is needed, serving as an adjunct to diet and maximally tolerated statin therapy. […] Alirocumab (Praluent), a proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor, was approved by the FDA in July 2015. […] Indications approved for adults include the following: […] Alirocumab reduced LDL cholesterol by 58% compared with placebo at week 24 when added to current standard of care, including maximally tolerated statins.

• #1 New Trends and Therapies for Familial Hypercholesterolemia

  https://www.mdpi.com/2077-0383/11/22/6638

  Ezetimibe therapy can also add 15–20% further LDL-C reduction with safety and low cost. […] PCSK9 inhibitors, e.g., the monoclonal antibodies alirocumab and evolocumab and the recently approved small-interference RNA inclisiran may add up to 40–60% average reduction in LDL-C in adults with heterozygous FH. […] For homozygous FH, there is no discussion of the need to use all available therapies to reduce LDL-C such as statins, ezetimibe, and PCSK9 inhibitors if patients are responsive. […] There is evidence from observational studies that lipoprotein apheresis not only reduces atherosclerosis progression but also increases ASCVD event-free survival. […] Given that the risk and severity of ASCVD in FH patients vary depending on the type of genetic defects as well as other risk biomarkers, and considering the development of novel therapies, the treatment of FH patients is changing from generalized to individualized (tailored) approaches.

• #1 Current Treatment of Familial Hypercholesterolaemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6159444/

  Bile acid sequestrants are considered second line therapy after treatment with statins and ezetimibe. […] In patients with FH, niacin is considered an alternative agent for patients after treatment with statins, ezetimibe and bile acid sequestrants. […] Mipomersen and lomitapide should be considered as adjunctive therapy to diet and cholesterol-lowering drugs in adults with homozygous FH to further reduce plasma LDL cholesterol, particularly if lipoprotein apheresis (LA) is not available. […] When lifestyle modifications prove inadequate and pharmaceutical interventions are either not tolerated or lack adequate response, lipoprotein apheresis (LA) can be used to remove circulating LDL along with other atherogenic particles. […] Orthotopic Liver transplantation (OLT) remains the only curative option for patients with homozygous FH that cannot achieve optimal LDL levels after pharmacological treatment and for those unable to tolerate lipid apheresis. […] The treatment of FH has evolved considerably with the availability of novel potent LDL-C reducing agents such as lomitapide and mipomersen in addition to plasma lipoprotein apheresis.

• #1 Familial hypercholesterolemia: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000392.htm

  Statin medicines are commonly used and are very effective. These medicines help lower your risk of heart attack and stroke. […] Other cholesterol-lowering medicines include: Bile acid-sequestering resins. Ezetimibe. Fibrates (such as gemfibrozil or fenofibrate). Nicotinic acid. PCSK9 inhibitors, such as alirocumab (Praluent) and evolocumab (Repatha). These represent a newer class of medicines to treat high cholesterol. […] People with a severe form of the disorder may need a treatment called apheresis. Blood or plasma is removed from the body. Special filters remove the extra LDL cholesterol, and the blood plasma is then returned to the body.

• #1 Current Treatment Options in Homozygous Familial Hypercholesterolemia

  https://www.mdpi.com/1424-8247/16/1/64

  The mainstay of the treatment of these patients is to adopt an aggressive pharmacotherapy strategy with multiple therapeutics, enabling LDL-C goals of < 55 mg/dL (1.4 mmol/L) for those with very high risk, and 70 mg/dL (1.8 mmol/L) for those with high risk, as early as possible. [...] Current guidelines recommend an LDL-C target of < 135 mg/dL (3.5 mmol/L) for children. [...] Statins and ezetimibe are still the first line therapy for patients with HoFH, although their mechanism of action is LDL-receptor dependent. [...] The use of resins (bile acid sequestrates) is limited mostly due to their poor tolerance and low efficacy; they are used mainly in pediatric patients and pregnant women with FH, with their advantage of not being absorbed. [...] However, the effect of all these conventional agents is not sufficient to achieve adequate LDL-C reduction, and more effective add-on LLTs are required in most cases.

• #1 Familial Hypercholesterolemia – Treatment | CardioSmart – American College of Cardiology

  http://www.cardiosmart.org/topics/familial-hypercholesterolemia/treatment

  Your health care team will advise you on what approach would be best for you. Treatment will likely include a combination of the following: […] Medications, depending on your type of FH and which medications have already been tried […] High-intensity statins, which block an enzyme needed to produce cholesterol in the liver […] Ezetimibe, which blocks cholesterol from being absorbed in the gut […] Bile acid sequestrants, which help remove cholesterol from the body […] PCSK9 inhibitors (alirocumab or evolocumab) work by helping the body get rid of LDL cholesterol from the blood by blocking a protein in the liver called proprotein convertase subtilisin kexin 9, or PCSK9 […] Bempedoic acid, an adenosine triphosphate-citrate lyase inhibitor that helps stop cholesterol production in your liver, or a combination of bempedoic acid and ezetimibe

• #1 Existing and emerging therapies for the treatment of familial hypercholesterolemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC8065289/

  Bempedoic acid provides modest but incremental LDL-cholesterol lowering that may allow some patients with FH to achieve minimal acceptable LDL-cholesterol goals that are not attained with other therapies with proven cardiovascular benefits. […] Inhibitors of PCSK9 have proven benefits in the prevention of atherosclerotic cardiovascular events. […] The efficacy and safety of alirocumab in adults with HoFH was investigated in the ODYSSEY HoFH (Study in Participants With Homozygous Familial Hypercholesterolemia). […] Evinacumab may provide an effective treatment option for patients with HoFH who are unable to reach target LDL-cholesterol despite multiple conventional lipid-lowering therapies and apheresis.

• #1 Current Treatment Options in Homozygous Familial Hypercholesterolemia

  https://www.mdpi.com/1424-8247/16/1/64

  Homozygous familial hypercholesterolemia (HoFH) is the rare form of familial hypercholesterolemia causing extremely high low-density lipoprotein cholesterol (LDL-C) levels, leading to atherosclerotic cardiovascular disease (ASCVD) in the first decades of life, if left untreated. […] Early diagnosis and effective lipid lowering therapy (LLT) are crucial for the prevention of early ASCVD in patients with HoFH. […] However, due to the absent or defective LDL-receptor activity, most individuals with HoFH are resistant to conventional LLT, that leads to LDL-C clearance by upregulating LDL-receptors. […] We are at the dawn of a new era of effective pharmacotherapies for HoFH patients, with new agents providing an LDL-receptor independent cholesterol reduction. […] The treatment algorithm and its goals in patients with HoFH should be handled like other patients with high or very high risk.

• #1 Treat and Manage Familial Hypercholesterolemia | Heart Disease, Family Health History, and Familial Hypercholesterolemia | CDC

  https://www.cdc.gov/heart-disease-family-history/treatment/index.html

  If you have familial hypercholesterolemia (FH), you will need to take cholesterol-lowering medicines such as statins to control your cholesterol levels. […] You will need to take cholesterol-lowering medicine to control your cholesterol levels. In most cases, you will need to take more than one type of cholesterol-lowering medicine to lower your LDL cholesterol to a healthy level. […] The most commonly prescribed medicines are statins. For children diagnosed with FH, statin therapy in childhood may be required, often starting by age 8-10. […] Other treatments for FH include cholesterol absorption inhibitor (ezetimibe), bile acid sequestrant, PCSK9 inhibitors, lipoprotein apheresis, and Bempedoic Acid (Nexletol). […] If you have homozygous FH, you might need additional treatments to lower your LDL cholesterol, including Lomitapide (marked as Juxtapid in the United States), liver transplant, and Evinacumab. […] These options all have risks and benefits and should be discussed with your healthcare provider or lipid specialist to find out which ones are best for you.

• #1 Current Treatment Options in Homozygous Familial Hypercholesterolemia

  https://www.mdpi.com/1424-8247/16/1/64

  Proprotein convertase subtilisin/kexin type 9 (PCSK9) is an important regulator of cholesterol metabolism. […] Alirocumab and evolocumab are fully humanized monoclonal antibodies that enable most of the patients with FH to reach their LDL-C goals. […] The efficacy of these monoclonal inhibitors of PCSK9 in HoFH patients depends on the LDL-receptor activity. […] Inclisiran is a small interfering ribonucleic acid (siRNA) that inhibits the intracellular synthesis of PCSK9 in hepatocytes, thereby upregulating the LDL-receptors. […] Lomitapide is a new generation potent lipid lowering agent with a mechanism of action independent of LDL-receptors, approved for the treatment of HoFH. […] Evinacumab is a monoclonal antibody that inhibits ANGPTL3, thereby significantly reducing both LDL-C and triglycerides.

• #1 Familial Hypercholesterolemia – Treatment | CardioSmart – American College of Cardiology

  http://www.cardiosmart.org/topics/familial-hypercholesterolemia/treatment

  Lipoprotein apheresis is a nonsurgical therapy that filters the blood through a machine to remove LDL cholesterol. It’s often done every 2-3 weeks and is considered when cholesterol-lowering medications are not enough or are not well tolerated. […] Ongoing monitoring to keep your numbers on track – In the early stages of getting your cholesterol under control, you may see your health care team more often. But when your levels are stable, you may need only one or two visits a year. […] Clinical trials involving other treatments are underway. For example, gene therapy is being studied and could one day potentially cure this disorder. […] Keeping Track of Your Cholesterol If you have FH, you will need to keep a close eye on your cholesterol levels. Talk with your health care team about how often you need to get your blood cholesterol checked, and any other steps you can take to stay healthy.

• #1 Familial hypercholesterolemia – Wikipedia

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

  Very severe cases may be considered for a liver transplant; this provides a liver with normally functional LDL receptors, and leads to rapid improvement of the cholesterol levels, but at the risk of complications from any solid organ transplant (such as rejection, infections, or side-effects of the medication required to suppress rejection). […] Lomitapide, an inhibitor of the microsomal triglyceride transfer protein, was approved by the US FDA in December 2012 as an orphan drug for the treatment of homozygous familial hypercholesterolemia. […] In January 2013, The US FDA also approved mipomersen, which inhibits the action of the gene apolipoprotein B, for the treatment of homozygous familial hypercholesterolemia. […] Evinacumab, a monoclonal antibody inhibiting angiopoietin-like protein 3, was approved in 2021 for adjunct therapy. […] Given that FH is present from birth and atherosclerotic changes may begin early in life, it is sometimes necessary to treat adolescents or even teenagers with agents that were originally developed for adults.

• #1 Recommendations | Familial hypercholesterolaemia: identification and management | Guidance | NICE

  https://www.nice.org.uk/guidance/cg71/chapter/recommendations

  Lipid-modifying drug therapy for a child or young person with FH should usually be considered by the age of 10 years. […] When offering lipid-modifying drug therapy for children or young people, healthcare professionals should inform the child or young person and their parent or carer that this treatment should be lifelong. […] Offer statins to children with FH by the age of 10 years or at the earliest opportunity thereafter. […] Statin therapy for children and young people should be initiated by a healthcare professional with expertise in treating children and young people with FH, and in a child-focused setting. […] In children and young people with homozygous FH, LDLC concentration may be lowered by lipid-modifying drug therapy and this should be considered before LDL apheresis.

• #1 Familial Hypercholesterolemia (FH) (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/familial-hypercholesterolemia.html

  While people with the condition have a higher risk for developing heart disease or having a heart attack, early diagnosis and treatment lowers their risk. […] Regular physical activity and eating a healthy, balanced diet are important for maintaining heart health. But a healthy lifestyle is not enough to treat familial hypercholesterolemia. […] Your doctor will discuss treatment options, which may include taking cholesterol-lowering medicines like statin drugs. […] Statins are safe for kids and teens, but they can cause side effects, such as liver problems and muscle pain. […] Many kids and teens with this condition never have it diagnosed. But for those who do, the good news is that it responds well to treatment when diagnosed early. […] If your child has familial hypercholesterolemia, schedule regular checkups with your doctor to keep track of cholesterol levels. Make sure your child follows the treatment plan.

• #1 FH Diagnosis, Management and Family Screening | the Family Heart Foundation

  https://familyheart.org/diagnostic-criteria-for-familia-hypercholesterolemia2

  Lipoprotein Apheresis Lipoprotein apheresis removes apoB-containing lipoproteins from the blood. This therapy is for patients with homozygous, compound heterozygous or severe heterozygous FH who are statin-intolerant. Additionally, lipoprotein is effective for pregnant women with severe forms of FH.6 […] It is recommended that statin therapy be initiated at age 8 to 10 years for children and adolescents with heterozygous FH.8 […] Statin therapy should be initiated at the time of diagnosis for children with homozygous FH.6,8 […] Children and adolescents with FH should be treated with statins that are indicated as appropriate for this age group.6 […] Ezetimibe or Bile Acid Sequestrants can be prescribed in combination with statins in children or adolescents whose LDL-C levels do not reach target levels.6

• #1 Familial Hypercholesterolemia: Early Diagnosis and Treatment is Key for Cardiovascular Prevention

  https://www.acc.org/Latest-in-Cardiology/Articles/2020/04/16/09/58/Familial-Hypercholesterolemia

  Medical treatment of FH should always be accompanied by lifestyle modifications to help modify other risk factors; however, lifestyle interventions alone only have a modest LDL-C reduction in FH patients. […] In cases where LDL-C does not respond to medical therapy, often seen in HoFH, LDL apheresis can be considered. […] Other nonstatin therapies such as niacin, bile acid sequestrants, fibrates, or apoB targeting therapies have very little evidence in FH. Emerging new LDL lowering therapies such as bempedoic acid (especially when given in combination with ezetimibe) and inclisiran appear promising.

• #1 Familial Hypercholesterolemia – Treatment | CardioSmart – American College of Cardiology

  http://www.cardiosmart.org/topics/familial-hypercholesterolemia/treatment

  Lomitapide inhibits the microsomal triglyceride transfer protein (MTP) to lower production in the liver and release of LDL cholesterol in the blood […] Evinacumab, an angiopoietin-like 3 (ANGPTL-3) inhibitor, allows faster breakdown of fats that lead to high cholesterol in the blood […] Inclisiran blocks production of the PCSK9 protein in the liver. […] Lifestyle changes to help medication therapy […] Eating foods that are low in saturated fats, trans fats and cholesterol, and high in fiber, especially whole grains, beans, and fresh fruits and vegetables […] Being physically active most days of the week – even regular walking helps and not sitting for long periods of time […] Losing weight, if needed […] Not smoking or using tobacco […] Managing other conditions, such as high blood pressure or diabetes.

• #1 Familial hypercholesterolemia: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000392.htm

  The goal of treatment is to reduce the risk of atherosclerotic heart disease. People who get only one copy of the defective gene from their parents may do well with diet changes and statin drugs. […] The first step is to change what you eat. Most of the time, the provider will recommend that you try this for several months before prescribing medicines. Diet changes include lowering the amount of fat you eat so that it is less than 30% of your total calories. If you are overweight, losing weight is very helpful. […] If lifestyle changes do not change your cholesterol level, your provider may recommend that you take medicines. There are several types of drugs available to help lower blood cholesterol level, and they work in different ways. Some are better at lowering LDL cholesterol, some are good at lowering triglycerides, while others help raise HDL cholesterol. Many people will be on several medicines.

• #1 Familial Hypercholesterolemia Treatments – Family Heart Foundation

  https://familyheart.org/fh-treatments

  When youre diagnosed with familial hypercholesterolemia (FH), it can be overwhelming and scary. […] By seeking help right away, you can live a longer, healthier life. The earlier youre diagnosed, the earlier you can start treatment that will slow down or prevent cardiovascular disease. […] Your FH treatment might consist of one or more medications. When more than one medication is taken, its called combination therapy. […] Treatment is a lifelong journey, but it can be managed even with a gene that raises cholesterol.

• #1 Hypercholesterolemia: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/23921-hypercholesterolemia

  Hypercholesterolemia treatment involves bringing down your LDL level to prevent heart disease. […] You can do this in several ways: Exercising more, Staying at a healthy weight, Eating foods low in saturated fat, Lowering your stress level, Taking cholesterol-lowering medications, Avoiding tobacco products, Controlling high blood pressure and blood sugar, Having lipoprotein apheresis (using a device to take lipoproteins out of your blood and then putting your blood back into your body). This is only for people with severe hypercholesterolemia. […] Hypercholesterolemia medications include: Statins, PCSK9 inhibitors, Ezetimibe, Bile acid sequestrants, Niacin, Bempedoic acid. Providers prescribe other medicines for people with familial hypercholesterolemia. […] Every medicine has side effects, but the benefits of cholesterol-lowering drugs make them worth taking. […] Once you’ve taken medicine for 8 to 12 weeks, your provider will do another lipid panel test to see if your results improve. If your numbers don’t improve, they may increase your dose, switch you to a different cholesterol-lowering medicine or prescribe a second medicine for you.

• #1 Familial hypercholesterolaemia: A guide for general practice

  https://www1.racgp.org.au/ajgp/2019/september/familial-hypercholesterolaemia

  If symptoms or signs of CVD exist, they should be noted and patients referred for specialist investigation. Asymptomatic patients should commence lipid-lowering treatment. […] All patients with FH should be regularly followed up with at least an annual review. […] Women of childbearing age should avoid statins for at least three months before conception and during pregnancy. […] Because FH is a hereditary, lifelong condition likely to result in premature CHD or death unless properly managed, affected patients should have care plans developed to maximise best practice approach to treatment. […] Specialist involvement and support will be required for all patients who develop CVD symptoms or who have difficulty lowering LDL-C levels, poor compliance with diet and medications or ongoing side effects with medications. […] The cholesterol burden present from birth accelerates the onset of CVD. […] Diet and lifestyle modifications alone are not sufficient for management. […] Outcomes are good if treatment starts early and adherence is lifelong.

• #1 Familial Hypercholesterolemia | Condition | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/familial-hypercholesterolemia/

  All patients with FH will need medications to reduce LDL levels. Diet and exercise alone will not be enough to lower the LDL to good levels with this genetic condition. Options for medications include: […] For people who have extremely high blood levels of LDL cholesterol, UT Southwestern is one of the few centers in the country that offers LDL apheresis. In this procedure, small amounts of blood or plasma are removed from the body, processed through special filters to remove extra LDL cholesterol, and returned to the body. […] Family screening is critical since up to half of close family members, including children of patients with FH, will also have FH. Family screening includes: […] Our FH specialists continue to be active in research to improve treatment. We are involved in an ongoing trial for homozygous FH. We are also a site for the national CASCADE FH registry, in which patients can get access to the latest care options and information.

• #1 Familial hypercholesterolaemia: A guide for general practice

  https://www1.racgp.org.au/ajgp/2019/september/familial-hypercholesterolaemia

  This guide explains when a possible diagnosis of FH should be considered and suggests clinical signs and symptoms to look for and the treatment pathway for patients. […] Once a diagnosis of FH is confirmed, lipid-lowering treatment (usually a statin, eg 20 mg rosuvastatin or 40 mg atorvastatin) should be commenced. The aim is to lower LDL-C by 50%. […] It is recommended to advise patients that if FH is left untreated, up to half will have a fatal or non-fatal CVD event by the age of 50 years (men) or 60 years (women). […] Early diagnosis and treatment offer the best opportunity to enable affected patients to live a normal lifespan. […] Close family relatives are encouraged to have their lipids checked as part of a cascade testing process; half the patients first-degree relatives will also have the condition.

• #1 New Trends and Therapies for Familial Hypercholesterolemia

  https://www.mdpi.com/2077-0383/11/22/6638

  Statin therapy is a lifelong preventive treatment of choice for individuals with FH. […] Statins reduce LDL-C by diminishing hepatic cholesterol synthesis acting on the 3-hydroxy-3-methylglutaryl coenzyme-A (HMG-CoA)-reductase. […] Ezetimibe is prescribed as a second-line therapy for LDL-C lowering in FH patients who persist with inadequate LDL-C concentrations. […] PCSK9 inhibitors are a new class of cholesterol-lowering drugs currently used as a third-line treatment for FH or for statin-intolerant or very-high-ASCVD-risk patients. […] Bempedoic acid (BA) is an oral inhibitor of cholesterol biosynthesis approved for cholesterol reduction. […] Angiopoietin-like 3 protein (ANGPTL3) is an endogenous inhibitor of lipoprotein and endothelial lipases. […] Lomitapide is an MTP inhibitor used as a lipid-lowering agent approved for the treatment of homozygous FH patients. […] People affected by FH are ideal candidates for gene therapy, which is potentially the most definitive treatment for life.

• #1 GENetic characteristics and REsponse to lipid-lowering therapy in familial hypercholesterolemia: GENRE-FH study | Scientific Reports

  https://www.nature.com/articles/s41598-020-75901-0

  Among the 146 patients enrolled in the Korean FH registry, 83 patients who had undergone appropriate LLT escalation and were followed-up for 6 months were analyzed for pathogenic variants (PVs). […] Currently, pharmacological agents including statins, ezetimibe, and PCSK9 inhibitors are used to treat FH in clinical practice. […] Individual difference in response to LLT is a crucial clinical issue as it can affect cardiovascular outcomes. […] Thus, in FH, it is likely that genetic variations affect an individual’s response to LLT. […] The primary variable in our study was the achieved percentage of expected response to LLT. […] The primary evaluation variable was the achieved percentage of expected LDL-C reduction. […] The primary variable was significantly lower in the PV-positive patients than in the PV-negative patients (p=0.007). […] The primary variables for evolocumab-treated patients tended to be lower for PV-positive patients, particularly null PV carriers. […] The results obtained in this study may ensure effective and individual management of FH patients with diverse genetic backgrounds.

• #1 Current Treatment of Familial Hypercholesterolaemia | ECR Journal

  https://www.ecrjournal.com/articles/current-treatment-familial-hypercholesterolaemia?language_content_entity=en

  Lifestyle modification, lipid-lowering therapy, LDL apheresis and in rare cases, liver transplant are the cornerstones of LDL-C lowering in patients with FH. […] It is important for the clinician to be aware of the various treatment options for FH, as combination therapy will likely be required to achieve goal reductions in LDL-C. […] Statins are first line pharmacologic therapy agents in the treatment of FH; they reduce cardiovascular mortality even in receptor-negative patients. […] Current guidelines recommend maximal statin therapy to reduce LDL-C levels by at least 50 % from baseline. […] Despite aggressive statin therapy, in the majority of patients with FH, even the highest doses of the most potent statins do not yield more than a 50 % LDL-C reduction. […] Ezetimibe is a selective cholesterol absorption inhibitor that blocks the absorption of dietary cholesterol and delivery of intestinal cholesterol to the liver resulting in up-regulation of hepatic LDL receptors and enhanced clearance of LDL particles from the circulation.

• #1 Familial Hypercholesterolemia | Condition | UT Southwestern Medical Center

  https://utswmed.org/conditions-treatments/familial-hypercholesterolemia/

  At UT Southwestern Medical Center, our doctors are dedicated to exceptional care for people with heart disease. Our familial hypercholesterolemia (FH) team offers the most advanced diagnostic and treatment options to manage FH, a genetic condition that can lead to early heart attacks. […] Our FH specialists have advanced training and specialized expertise in diagnosing and treating people with FH, and our research has been instrumental in developing treatments for high cholesterol. […] Proper treatment can successfully lower LDL cholesterol levels and reduce the risk of atherosclerosis, heart disease, and heart attacks. Our FH specialists work closely with patients to create treatment plans that are customized to each patients individual needs. […] We treat FH with lifestyle changes and medications to control blood levels of LDL cholesterol and to lower risks of heart attacks and strokes. Our recommendations for healthy habits include:

• #2 Current Treatment of Familial Hypercholesterolaemia | ECR Journal

  https://www.ecrjournal.com/articles/current-treatment-familial-hypercholesterolaemia?language_content_entity=en

  Familial hypercholesterolaemia is an autosomal-dominant disorder associated with mutations in the LDL receptor gene resulting in markedly elevated plasma low-density lipoprotein cholesterol levels. […] Early diagnosis and treatment of FH is paramount to reduce the risk of premature atherosclerotic cardiovascular disease and death. The goal of treatment is to reduce LDL-C by 50 % from baseline levels with lifestyle modification, pharmacologic lipid-lowering therapy, LDL apheresis and in rare cases, liver transplantation. […] Pharmacologic treatment ranges from statin medications to newer agents such as lomitapide, mipomersin and PCSK9 inhibitors. […] Combination therapy is frequently required to achieve goal lipoprotein level reductions and prevent complications. […] The goal of treatment is to reduce LDL-C by 50 % from baseline levels.

• #2 Familial Hypercholesterolemia Treatment & Management: Medical Care, Risk Categories, Treatment Recommendations for Homozygous FH

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

  The 2001 National Cholesterol Education Program (NCEP) Adult Treatment Panel III (ATPIII) defined target LDLc levels and levels based on risk for CHD. […] The 2004 update added optional lower LDLc goals to reflect the findings of several interventional trials demonstrating that more aggressive LDLc lowering further reduced coronary event rate. […] LDLc goal less than 100 mg/dL. […] Therapeutic lifestyle changes (TLC) instituted at LDL 100 mg/dL or more. […] Medical therapy initiated at LDL 100 mg/dL or more (new 2004 cut off point). […] Optional LDLc goal less than 70 mg/dL, especially for very high risk patients include the following: […] Treatment of homozygous FH involves a combination of lifestyle changes, statin therapy (first approach), and lipoprotein apheresis for severe cases, if available, and should be started as early as possible.

• #2 Recommendations | Familial hypercholesterolaemia: identification and management | Guidance | NICE

  https://www.nice.org.uk/guidance/cg71/chapter/recommendations

  Ezetimibe, co-administered with initial statin therapy, is recommended as an option for treating primary (heterozygous-familial) hypercholesterolaemia in adults who have started statin therapy when: serum total or low-density lipoprotein (LDL) cholesterol concentration is not appropriately controlled. […] When prescribing ezetimibe co-administered with a statin, ezetimibe should be prescribed on the basis of lowest acquisition cost. […] For the purposes of this guidance, appropriate control of cholesterol concentrations should be based on individualised risk assessment according to national guidance on managing cardiovascular disease in the relevant populations. […] For the purposes of this guidance, intolerance to initial statin therapy is defined as the presence of clinically significant adverse effects that represent an unacceptable risk to the patient or that may reduce compliance with therapy.

• #2

  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. […] Statins are the first-line therapy of choice for FH patients as they have been proven to reduce CVD risk across a range of conditions including hypercholesterolemia (though not specifically tested in FH). […] HMG-coenzyme reductase inhibitors (statins) are the therapy of first choice in FH patients. […] It is of note that statins, albeit their efficacy in lowering LDL-C, are widely underused in FH patients. […] Statin therapy is the cornerstone in the treatment of patients with FH. […] In some HoFH patients, statins may be effective, although the effects on plasma LDL-C levels are known to be relatively modest, which is due to the severe deficiency in LDLR function.

• #2 Familial Hypercholesterolemia Medication: HMG-CoA reductase inhibitors (statins), Vitamins, Bile acid sequestrants (resins), Lipid-Lowering Agents, Other, Lipid-Lowering Agents, 2-Azetidinones, PCSK9 Inhibitors, Lipid-Lowering Agents, ACL Inhibitors, ANGP

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

  HMG-CoA reductase inhibitors (statins) are the medications of choice for the treatment of LDLc elevations in patients with heterozygous FH because they have the greatest efficacy and are easily tolerated and because multiple randomized, placebo-controlled trials have shown that lowering LDLc levels with statins reduces coronary morbidity and mortality and, in some cases, total mortality. The strongest statins, rosuvastatin and atorvastatin, at their maximum approved doses, can be expected to reduce LDLc levels 50-60%. […] Even the maximum doses of the strongest statins are usually inadequate for patients with FH, and the addition of one or more nonstatin cholesterol-lowering medications is necessary. ACL inhibitors and PCSK9 inhibitors are now available in the United States to add to maximally tolerated statins or other LDLc-lowering therapies for patients with heterozygous FH.

• #2 Familial Hypercholesterolemia: Early Diagnosis and Treatment is Key for Cardiovascular Prevention

  https://www.acc.org/Latest-in-Cardiology/Articles/2020/04/16/09/58/Familial-Hypercholesterolemia

  Familial Hypercholesterolemia: Early Diagnosis and Treatment is Key for Cardiovascular Prevention […] Several tools and screening strategies have been developed to help guide clinicians to earlier diagnosis and treatment. […] This overview will provide a summary of the genetics, clinical manifestations, detection strategies, and current guideline-based approaches for treatment of FH. […] Reducing the LDL-C level is one of the primary goals of treatments. Therefore, the first-line treatment is maximally tolerated statin therapy and should be started as early as possible, especially if LDL-C is 190 mg/dL (class I). […] If this is not obtained by statin therapy alone, then the addition of ezetimibe is reasonable (class IIa). […] If the goal LDL-C is still not achieved with maximally tolerated statin and ezetimibe, or the patient is statin intolerant, then PCSK9 inhibitor therapy can be considered (class IIb).

• #2 Current Treatment of Familial Hypercholesterolaemia

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6159444/

  Lifestyle modification, lipid-lowering therapy, LDL apheresis and in rare cases, liver transplant are the cornerstones of LDL-C lowering in patients with FH. […] Statins are first line pharmacologic therapy agents in the treatment of FH; they reduce cardiovascular mortality even in receptor-negative patients. […] Current guidelines recommend maximal statin therapy to reduce LDL-C levels by at least 50 % from baseline. […] Despite aggressive statin therapy, in the majority of patients with FH, even the highest doses of the most potent statins do not yield more than a 50 % LDL-C reduction. In these patients a combination of lipid-modifying agents enhances efficacy. […] Ezetimibe is a selective cholesterol absorption inhibitor that blocks the absorption of dietary cholesterol and delivery of intestinal cholesterol to the liver resulting in up-regulation of hepatic LDL receptors and enhanced clearance of LDL particles from the circulation.

• #2

  https://link.springer.com/article/10.1007/s40119-015-0037-z

  Although these measures are of benefit, they are unlikely to lower the LDL-C levels sufficiently and direct intervention is invariably needed to reduce the levels. […] Statins remain the only class of lipid-lowering therapy to reduce total and coronary mortality post-myocardial infarction. […] If started prophylactically in early adulthood, statin use has been shown to lower the risk of CHD by up to 80 %. […] The addition of ezetimibe (a cholesterol absorption inhibitor) to statins or as monotherapy reduces CVD events with NICE and EAS both recommending its co-administration, which may help reduce LDL-C levels by 60 to 70 % in total. […] Despite maximal dose statin therapy, LDL-C levels may yet remain elevated. […] Medical therapy with statins alone or in combination with other lipid-lowering agents such as ezetimibe, bile acid sequestrants, niacin, or probucol rarely provide an adequate solution, and the majority of patients ultimately require LDL apheresis.

• #2 Familial Hypercholesterolemia – Treatment | CardioSmart – American College of Cardiology

  http://www.cardiosmart.org/topics/familial-hypercholesterolemia/treatment

  Your health care team will advise you on what approach would be best for you. Treatment will likely include a combination of the following: […] Medications, depending on your type of FH and which medications have already been tried […] High-intensity statins, which block an enzyme needed to produce cholesterol in the liver […] Ezetimibe, which blocks cholesterol from being absorbed in the gut […] Bile acid sequestrants, which help remove cholesterol from the body […] PCSK9 inhibitors (alirocumab or evolocumab) work by helping the body get rid of LDL cholesterol from the blood by blocking a protein in the liver called proprotein convertase subtilisin kexin 9, or PCSK9 […] Bempedoic acid, an adenosine triphosphate-citrate lyase inhibitor that helps stop cholesterol production in your liver, or a combination of bempedoic acid and ezetimibe

• #2 Familial Hypercholesterolemia Treatment & Management: Medical Care, Risk Categories, Treatment Recommendations for Homozygous FH

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

  Evolocumab (Repatha) is the second PCSK9 inhibitor approved in the United States in 2015. […] It is approved as an adjunct to diet and other LDLc-lowering therapies for the treatment of adults and children aged 10 years or older with heterozygous FH or clinical atherosclerotic CVD who require additional lowering of LDLc.

• #2 Current Treatment Options in Homozygous Familial Hypercholesterolemia

  https://www.mdpi.com/1424-8247/16/1/64

  Proprotein convertase subtilisin/kexin type 9 (PCSK9) is an important regulator of cholesterol metabolism. […] Alirocumab and evolocumab are fully humanized monoclonal antibodies that enable most of the patients with FH to reach their LDL-C goals. […] The efficacy of these monoclonal inhibitors of PCSK9 in HoFH patients depends on the LDL-receptor activity. […] Inclisiran is a small interfering ribonucleic acid (siRNA) that inhibits the intracellular synthesis of PCSK9 in hepatocytes, thereby upregulating the LDL-receptors. […] Lomitapide is a new generation potent lipid lowering agent with a mechanism of action independent of LDL-receptors, approved for the treatment of HoFH. […] Evinacumab is a monoclonal antibody that inhibits ANGPTL3, thereby significantly reducing both LDL-C and triglycerides.

• #2 Familial hypercholesterolemia > Fact Sheets > Yale Medicine

  https://www.yalemedicine.org/conditions/familial-hypercholesterolemia

  Bile acid sequestrants. This is an older type of drug that, on its own or in combination with statins, can also lower LDL cholesterol levels. […] PCSK9 inhibitors. First approved in 2015 specifically for FH, this newer class of drugs may be prescribed together with other cholesterol-lowering drugs. […] LDL apheresis. If oral medications are not effectively lowering LDL cholesterol levels, then a medical procedure called apheresis might be recommended, and it can be helpful for young children, too. […] Liver transplantation. This is an alternative therapy to apheresis. If a liver transplant is available, it is preferred to apheresis as no regular therapy is needed.

• #2 Familial Hypercholesterolemia : LearnYourLipids

  https://www.learnyourlipids.com/lipid-disorders/familial-hypercholesterolemia/

  Bile Acid Sequestrants: These drugs work by binding bile acids (made in the liver and put in bile for use in digestion) in the intestine, leading to lower cholesterol levels. They are cholestyramine, colestipol and colesevelam. […] Lomitapide: used for adults with homozygous FH. It works by reducing production of particles in the liver called VLDL. When these particles are sent out of the liver, they can be made into LDL particles. […] Evinacumab is an antibody to a protein that affects the bodys removal of LDL. It is given as an intravenous infusion once per month. It is only approved for people with homozygous FH, aged 5 and above. […] LDL apheresis is a treatment that can be used to help patients who are unable to reach their target LDL-c even with medications and lifestyle changes. During this procedure, blood is removed from the body and sent through a machine that filters LDL. The cleaned blood with much lower LDL levels, is then returned to the body. This entire process takes about 2-3 hours. […] Referral to a Lipid Specialist is useful for people with FH. Many patients with heterozygous FH will need more than one cholesterol lowering medication. Patients with homozygous FH may need multiple medications and may need LDL apheresis.

• #2 Familial Hypercholesterolemia Treatment & Management: Medical Care, Risk Categories, Treatment Recommendations for Homozygous FH

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

  In pediatric heterozygous FH, a study suggests that rosuvastatin slows atherosclerotic progression. […] In February 2020, the FDA approved bempedoic acid (Nexletol), the first adenosine triphosphate-citrate lyase (ACL) inhibitor. […] Bempedoic acid is indicated for adults with heterozygous familial hypercholesterolemia or established atherosclerotic cardiovascular disease when additional LDLc reduction is needed, serving as an adjunct to diet and maximally tolerated statin therapy. […] Alirocumab (Praluent), a proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor, was approved by the FDA in July 2015. […] Indications approved for adults include the following: […] Alirocumab reduced LDL cholesterol by 58% compared with placebo at week 24 when added to current standard of care, including maximally tolerated statins.

• #2 Adjunct Pharmacologic Therapy for Adult Homozygous Familial Hypercholesterolemia – The Cardiology Advisor

  https://www.thecardiologyadvisor.com/cch/homozygous-familial-hypercholesterolemia-ldl-cholesterol-ascvd/

  The response to statin monotherapy is diminished in patients with HoFH compared with the general population, and in most patients with FH, statins alone are insufficient to normalize LDL-C levels. […] The EAS and ACC/AHA recommend adding LLTs targeting PCSK9 if LDL-C level targets are not met after treatment with statins and ezetimibe. […] Two PCSK9-direct therapies are approved by the US Food and Drug Administration (FDA) as adjunct therapies to lower LDL-C levels in patients with HoFH: alirocumab and evolocumab. […] Evinacumab was approved by the FDA in 2021 as an adjunct therapy for patients aged 12 and older in the treatment of HoFH. […] Lomitapide is indicated for use as an adjunct therapy in patients with HoFH, but its prescribing information contains a boxed warning for risk of hepatotoxicity.

• #2 Current Treatment Options in Homozygous Familial Hypercholesterolemia

  https://www.mdpi.com/1424-8247/16/1/64

  Lipoprotein apheresis, which has been in use for more than 45 years, is the most effective means of lowering LDL-C levels in patients with HoFH. […] Liver transplantation is considered as a curative treatment or last resort of HoFH, with substantial LDL-C reductions of up to 80%. […] The mortality and morbidity are mainly determined by on-treatment LDL-C levels in patients with HoFH. […] Conventional LLT including statins, ezetimibe, and PCSK9-inhibitors constitute the first-line therapy of HoFH patients. […] Therefore, most HoFH patients are referred to LDL-apheresis as the most effective means of LDL-C lowering. […] Lomitapide and evinacumab are more effective pharmacotherapies for HoFH patients, providing an LDL-receptor independent cholesterol reduction.

• #2 Familial Hypercholesterolemia: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/22067-familial-hypercholesterolemia

  Familial hypercholesterolemia treatment may include one or more medications to reduce your LDL level as low as possible. People with severe FH may need periodic LDL apheresis (blood filtering) or a liver transplant (rarely). […] Medicines for this type include: Statins, PCSK9 inhibitors, Bile acid sequestrants, Ezetimibe, Fibrates, Nicotinic acid, Bempedoic acid. […] Medications for this type include: Statins, PCSK9 inhibitors, Ezetimibe, Fibrates, Mipomersen, Lomitapide, Evinacumab. […] With early treatment for FH, the outlook (prognosis) is excellent. […] Getting treatment for familial hypercholesterolemia cuts down your risk of heart disease by more than half.

• #2 Homozygous Familial Hypercholesterolemia Primer for Pharmacists ​

  https://www.uspharmacist.com/article/homozygous-familial-hypercholesterolemia-primer-for-pharmacists-

  Homozygous familial hypercholesterolemia (HoFH) is an inherited disorder characterized by dangerously elevated low-density lipoprotein (LDL) levels. […] Treatment consists of both pharmacologic and nonpharmacologic therapies. […] The primary goal of treatment for HoFH is to reduce mortality and prevent ASCVD progression. […] The American Heart Association/American College of Cardiology recommends initiation of a high-intensity statin to lower LDL-C levels by a minimum of 50% in high-risk and very high-risk patients. […] Pharmacologic therapies that are currently being used to treat HoFH include statins, a cholesterol absorption inhibitor, PCSK9 inhibitors, a microsomal triglyceride transfer protein (MTP) inhibitor, and an angiopoietin-like 3 (ANGPTL3) inhibitor. […] Lipoprotein apheresis and liver transplantation are two nonpharmacologic therapies that are used in patients who are unresponsive to pharmacologic and dietary management.

• #2 About Familial Hypercholesterolemia | Heart Disease, Family Health History, and Familial Hypercholesterolemia | CDC

  https://www.cdc.gov/heart-disease-family-history/about/about-familial-hypercholesterolemia.html

  Finding and treating FH early, with medicines such as statins, is important to prevent coronary artery disease. […] Medicines, such as statins, are needed to help control cholesterol levels. […] If your child is diagnosed with FH, statin therapy in childhood may be required, often starting by age 8-10. […] People with homozygous FH need to find a healthcare provider knowledgeable about FH and start treatment right away.

• #2 FH Diagnosis, Management and Family Screening | the Family Heart Foundation

  https://familyheart.org/diagnostic-criteria-for-familia-hypercholesterolemia2

  Lipoprotein Apheresis Lipoprotein apheresis removes apoB-containing lipoproteins from the blood. This therapy is for patients with homozygous, compound heterozygous or severe heterozygous FH who are statin-intolerant. Additionally, lipoprotein is effective for pregnant women with severe forms of FH.6 […] It is recommended that statin therapy be initiated at age 8 to 10 years for children and adolescents with heterozygous FH.8 […] Statin therapy should be initiated at the time of diagnosis for children with homozygous FH.6,8 […] Children and adolescents with FH should be treated with statins that are indicated as appropriate for this age group.6 […] Ezetimibe or Bile Acid Sequestrants can be prescribed in combination with statins in children or adolescents whose LDL-C levels do not reach target levels.6

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

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

  One of the strong recommendations was that all children with FH should be identified before the age of 10, in order that lifestyle, and where necessary statin treatment, should be initiated to reduce their subsequent risk. […] While it is clear that statin treatment in adults has a good safety record, there are no long term studies of safety in children, with the longest studies usually not extending past two years, and simply following up lipid levels, growth rates, progression through puberty, and capturing information on any major side effects. […] The data shows that FH children on statin treatment report no clinically relevant side effects and are growing at the same rate as untreated FH children.

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

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

  Familial hypercholesterolemia cannot be treated by diet and exercise alone. These lifestyle changes can help, but medications are recommended to reduce LDL cholesterol levels by at least 50%. […] Treatment usually involves a statin drug, and other cholesterol-lowering medications, such as ezetimibe, also may be required. […] People with extremely high LDL cholesterol, such as those with HoFH, may need a treatment called LDL apheresis. This is a dialysis-like procedure that’s done every few weeks to remove cholesterol from the blood. […] Another class of lipid-lowering medications called bile acid sequestrants, which include cholestyramine or colesevelam, also may be used. These drugs reduce the amount of cholesterol absorbed by the intestines. This, in turn, lowers the amount of cholesterol that gets into the bloodstream.

• #2 Familial hypercholesterolemia: MedlinePlus Medical EncyclopediaLock

  https://medlineplus.gov/ency/article/000392.htm

  The goal of treatment is to reduce the risk of atherosclerotic heart disease. People who get only one copy of the defective gene from their parents may do well with diet changes and statin drugs. […] The first step is to change what you eat. Most of the time, the provider will recommend that you try this for several months before prescribing medicines. Diet changes include lowering the amount of fat you eat so that it is less than 30% of your total calories. If you are overweight, losing weight is very helpful. […] If lifestyle changes do not change your cholesterol level, your provider may recommend that you take medicines. There are several types of drugs available to help lower blood cholesterol level, and they work in different ways. Some are better at lowering LDL cholesterol, some are good at lowering triglycerides, while others help raise HDL cholesterol. Many people will be on several medicines.

• #2 Hypercholesterolemia: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/23921-hypercholesterolemia

  Hypercholesterolemia treatment involves bringing down your LDL level to prevent heart disease. […] You can do this in several ways: Exercising more, Staying at a healthy weight, Eating foods low in saturated fat, Lowering your stress level, Taking cholesterol-lowering medications, Avoiding tobacco products, Controlling high blood pressure and blood sugar, Having lipoprotein apheresis (using a device to take lipoproteins out of your blood and then putting your blood back into your body). This is only for people with severe hypercholesterolemia. […] Hypercholesterolemia medications include: Statins, PCSK9 inhibitors, Ezetimibe, Bile acid sequestrants, Niacin, Bempedoic acid. Providers prescribe other medicines for people with familial hypercholesterolemia. […] Every medicine has side effects, but the benefits of cholesterol-lowering drugs make them worth taking. […] Once you’ve taken medicine for 8 to 12 weeks, your provider will do another lipid panel test to see if your results improve. If your numbers don’t improve, they may increase your dose, switch you to a different cholesterol-lowering medicine or prescribe a second medicine for you.

• #2 Familial hypercholesterolaemia: A guide for general practice

  https://www1.racgp.org.au/ajgp/2019/september/familial-hypercholesterolaemia

  If symptoms or signs of CVD exist, they should be noted and patients referred for specialist investigation. Asymptomatic patients should commence lipid-lowering treatment. […] All patients with FH should be regularly followed up with at least an annual review. […] Women of childbearing age should avoid statins for at least three months before conception and during pregnancy. […] Because FH is a hereditary, lifelong condition likely to result in premature CHD or death unless properly managed, affected patients should have care plans developed to maximise best practice approach to treatment. […] Specialist involvement and support will be required for all patients who develop CVD symptoms or who have difficulty lowering LDL-C levels, poor compliance with diet and medications or ongoing side effects with medications. […] The cholesterol burden present from birth accelerates the onset of CVD. […] Diet and lifestyle modifications alone are not sufficient for management. […] Outcomes are good if treatment starts early and adherence is lifelong.

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

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

  Injectable medications, known as PCSK9 inhibitors, also can lower cholesterol levels. These medications target and block the PCSK9 protein, which frees up more receptors on liver cells to remove LDL cholesterol from the blood. […] If you’ve been diagnosed with FH, talk to your health care professional about the right treatment plan for you. Also talk to your family members about FH so they can get screened and treated.

• #2 Familial Hypercholesterolemia: Screening, Diagnosis, and Treatment | AAFP

  https://www.aafp.org/pubs/afp/issues/2024/0900/editorial-hypercholesterolemia.html

  Familial hypercholesterolemia, an autosomal dominant genetic disorder, is characterized by markedly increased low-density lipoprotein (LDL) cholesterol that causes premature arteriosclerotic cardiovascular disease (ASCVD). […] Screening for and diagnosing familial hypercholesterolemia in childhood can lead to treatment with lifestyle changes and medication, reducing the serious vascular effects of this dyslipidemia. […] The National Heart, Lung, and Blood Institute and American Academy of Pediatrics recommend universal screening for children 9 to 11 years of age as one approach. […] A reasonable practice is to combine the NICE and American Heart Association approaches and order a lipid profile for all family members older than 9 years who have a first-degree relative with a premature ASCVD event or a relative receiving treatment for LDL cholesterol greater than 190 mg per dL.

• #2 New Trends and Therapies for Familial Hypercholesterolemia

  https://www.mdpi.com/2077-0383/11/22/6638

  Statin therapy is a lifelong preventive treatment of choice for individuals with FH. […] Statins reduce LDL-C by diminishing hepatic cholesterol synthesis acting on the 3-hydroxy-3-methylglutaryl coenzyme-A (HMG-CoA)-reductase. […] Ezetimibe is prescribed as a second-line therapy for LDL-C lowering in FH patients who persist with inadequate LDL-C concentrations. […] PCSK9 inhibitors are a new class of cholesterol-lowering drugs currently used as a third-line treatment for FH or for statin-intolerant or very-high-ASCVD-risk patients. […] Bempedoic acid (BA) is an oral inhibitor of cholesterol biosynthesis approved for cholesterol reduction. […] Angiopoietin-like 3 protein (ANGPTL3) is an endogenous inhibitor of lipoprotein and endothelial lipases. […] Lomitapide is an MTP inhibitor used as a lipid-lowering agent approved for the treatment of homozygous FH patients. […] People affected by FH are ideal candidates for gene therapy, which is potentially the most definitive treatment for life.

• #2

  https://link.springer.com/article/10.1007/s40119-015-0037-z

  Due to its dramatic benefits, extracorporeal removal of LDL-C by lipoprotein apheresis is now the treatment of choice in HoFH. […] Liver transplantation was first described in 1983 and has now emerged as the most effective treatment, markedly improving LDL-C levels long term. […] Due to the limitations of existing therapies, novel lipid-lowering agents are being developed and provide a new avenue for research for the management of FH. […] Lomitapide was first approved by the US Food and Drug Administration (FDA) in December 2012 and the European Medicines Agency (EMA) as additional therapy to other lipid-lowering regimes including LDL apheresis in those aged 18 years and over with HoFH. […] Mipomersen is an antisense oligonucleotide targeting the messenger ribonucleic acid of ApoB with eventual reduction in the secretion of VLDL. […] Therapeutic inhibition of PCSK9 was first hypothesized by Berge and colleagues in 2006. […] Gene therapy does provide an exciting new avenue for future research, especially for patients with HoFH who are LDL-R defective.

• #2 New Trends and Therapies for Familial Hypercholesterolemia

  https://www.mdpi.com/2077-0383/11/22/6638

  New Trends and Therapies for Familial Hypercholesterolemia […] The development of atherosclerosis risk scores specific for heterozygous FH and the use of subclinical coronary atherosclerosis imaging help with identifying higher-risk individuals who may benefit from further cholesterol lowering with PCSK9 inhibitors. […] There is no question about the extreme high risk in homozygous FH, and intensive LDL-cholesterol-lowering therapy must be started as soon as possible. […] Newer therapies such as inhibitors of microsomal transfer protein and angiopoietin-like protein 3 have opened the possibility of LDL-cholesterol normalization in homozygous FH and may provide an alternative to lipoprotein apheresis for these patients. […] Currently, there is consensus that adults with FH should receive the highest-tolerated dose of statins with the aim of reducing LDL-C by at least 50%.

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

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

  Injectable medications, known as PCSK9 inhibitors, also can lower cholesterol levels. These medications target and block the PCSK9 protein, which frees up more receptors on liver cells to remove LDL cholesterol from the blood. […] If you’ve been diagnosed with FH, talk to your health care professional about the right treatment plan for you. Also talk to your family members about FH so they can get screened and treated.

• #3 Current Treatment Options in Homozygous Familial Hypercholesterolemia

  https://www.mdpi.com/1424-8247/16/1/64

  Lipoprotein apheresis, which has been in use for more than 45 years, is the most effective means of lowering LDL-C levels in patients with HoFH. […] Liver transplantation is considered as a curative treatment or last resort of HoFH, with substantial LDL-C reductions of up to 80%. […] The mortality and morbidity are mainly determined by on-treatment LDL-C levels in patients with HoFH. […] Conventional LLT including statins, ezetimibe, and PCSK9-inhibitors constitute the first-line therapy of HoFH patients. […] Therefore, most HoFH patients are referred to LDL-apheresis as the most effective means of LDL-C lowering. […] Lomitapide and evinacumab are more effective pharmacotherapies for HoFH patients, providing an LDL-receptor independent cholesterol reduction.

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