Materiały źródłowe

• #1 Familial hypercholesterolaemia — Knowledge Hub

  https://www.genomicseducation.hee.nhs.uk/genotes/knowledge-hub/familial-hypercholesterolaemia/

  Familial hypercholesterolaemia (FH) is the most common genetic cause of premature atherosclerotic cardiovascular diseases (ASCVD), with estimated prevalence of 1 in 270 for heterozygous FH and 1 in 300,000 for homozygous cases. […] FH is generally asymptomatic until the development of ASCVD, so screening to prevent complications is the best strategy. […] FH should be suspected if a patient presents with elevated total cholesterol (greater than 7.5 millimoles per litre (mmol/L) and low-density lipoprotein cholesterol (LDL) (greater than 4.9 mmol/L); early ASCVD in the form of acute coronary syndrome or, less frequently, stroke, transient ischemic attack or peripheral arterial disease before age 60 in heterozygous FH; peripheral stigmata of hyperlipidaemia (tendon xanthoma, xanthelasma or corneal arcus below age 45); family history of early ASCVD (below age 50 in second-degree relatives or below age 60 in first-degree relatives); or family history of documented raised cholesterol levels greater than 7.5mmol/L in adult first-degree or second-degree relatives; and all inherited in an autosomal dominant pattern.

• #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. […] Family physicians are in an ideal position to bring nuanced, family-centered knowledge to these decisions. […] After patients with familial hypercholesterolemia are identified, family physicians should provide lifestyle guidance to optimize blood pressure, weight, diet, physical activity, and tobacco cessation. […] Family physicians have an opportunity to identify and care for patients at high risk of ASCVD due to heterozygous familial hypercholesterolemia before the onset of cardiovascular clinical events. […] Customizing and incorporating the NICE and American Heart Association recommended approaches, as well as using the Dutch criteria, can identify patients with familial hypercholesterolemia so that potentially life-saving preventive interventions can be initiated.

• #3 Familial Hypercholesterolemia: Symptoms & Treatment

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

  Familial hypercholesterolemia (FH) is a genetic disorder that increases your risk of heart disease at a younger age than usual. Treatments like cholesterol-lowering medications and changes in what you eat can cut down your risk by more than half. Letting your family know you have FH gives them the chance to get tested and get early treatment. […] Familial hypercholesterolemia is a genetic condition that causes high LDL, raising your risk of heart disease and stroke. […] Without treatment, people who have this disorder are at a higher risk of getting coronary artery disease early. This can lead to heart attacks and other cardiovascular issues at a much younger age than for people who don’t have FH. […] While this may sound overwhelming, there is hope. You can treat familial hypercholesterolemia by taking medicines and changing daily habits.

• #4 Reviewing Evidence on the Screening, Diagnosis, and Care of Familial Hypercholesterolemia – The Cardiology Advisor

  https://www.thecardiologyadvisor.com/home/topics/metabolic/dyslipidemia/familial-hypercholesterolemia-is-one-of-the-most-clinically-relevant-monogenic-disorders-contributing-to-ascvd/

  Familial hypercholesterolemia (FH) is one of the most clinically relevant monogenic disorders contributing to the development of atherosclerotic cardiovascular disease (ASCVD). […] The disease often remains undetected and thus untreated, with only 10% of individuals with FH receiving adequate diagnosis and treatment. […] A combination of selective, opportunistic (eg, genetic screening of blood donors), systematic, and universal screening approaches is recommended to improve the detection of FH. […] Universal screening of children and child-parent (reverse) cascade testing is potentially a highly effective method for detecting patients with FH at a young age, before they develop ASCVD. […] All children with FH should ideally be detected from the age of 5 years or earlier if homozygous FH (hoFH) is suspected.

• #5 Familial Hypercholesterolemia: Symptoms & Treatment

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

  Early treatment greatly reduces your risk of these complications. […] 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). […] You can’t prevent an inherited disease like familial hypercholesterolemia. But you can help your family get treatment early by letting them know about your diagnosis. […] Without early treatment, heart disease can start before age 10 for people who have homozygous FH. People with the heterozygous type may develop heart disease at age 30 without treatment. […] Healthcare providers don’t have a cure for familial hypercholesterolemia. But once you know you have FH, your provider can treat you for it and help you prevent cardiovascular disease.

• #6 Hypercholesterolemia (Nursing) – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK568722/

  Nurses play a vital part in patient education. Often, patients will not comprehend their physician’s explanation of the disease process, pharmacological treatments, and lifestyle changes necessary to effect a positive change in their condition. […] Nurses are generally part of the healthcare team tasked with patient education and encouraging positive behavioral change in patients that will positively change their lipid profile. One method nurses use in creating behavioral change is combing motivational interviewing with the Stages of Change model. […] The nurse is ideal for educating the patient about lifestyle changes, eating a healthy diet, and resuming an active lifestyle.

• #7 Hypercholesterolemia (Nursing) – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/sites/books/NBK568722/

  Nurses play a vital part in patient education. Often, patients will not comprehend their physician’s explanation of the disease process, pharmacological treatments, and lifestyle changes necessary to effect a positive change in their condition. […] Nurses are generally part of the healthcare team tasked with patient education and encouraging positive behavioral change in patients that will positively change their lipid profile. One method nurses use in creating behavioral change is combing motivational interviewing with the Stages of Change model. […] The nurse is ideal for educating the patient about lifestyle changes, eating a healthy diet, and resuming an active lifestyle. […] The nurse is ideal for educating the patient about changes in lifestyle, eating a healthy diet, and resuming an active lifestyle.

• #8 Hyperlipidemia: Nursing Diagnoses, Care Plans, Assessment & Interventions | NurseTogether

  https://www.nursetogether.com/hyperlipidemia-nursing-diagnosis-care-plan/

  Nurses are important in the education process in managing hyperlipidemia. Nurses educate patients on their risk factors for hyperlipidemia and appropriate treatment. Nurses can help patients in creating and progressing toward their lifestyle goals to achieve positive outcomes. […] When taking their medical history, it is critical to thoroughly evaluate each patients family history of cardiovascular disease, hyperlipidemia, and familial hypercholesterolemia. […] To reach optimal cholesterol levels, patients with hyperlipidemia will require lifestyle modifications and, in many cases, medications. Assess the patients ability and willingness to adhere to their treatment plan. […] Patients with hyperlipidemia are at risk for cardiovascular disease. Adults should have their lipid profile assessed every 5 years. If cholesterol numbers are abnormal, this screening increases to every 1-2 years.

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

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

  A detailed family history is an important key to diagnosing familial hypercholesterolemia. […] If you are diagnosed with familial hypercholesterolemia, doctors usually recommend that your first-degree relatives such as siblings, parents and children be checked for the disorder. This will allow treatment to begin early, if needed. […] 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. […] 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.

• #10 Familial Hypercholesterolemia Patient Information – PCNA

  https://pcna.net/resources/patient-education/patient-information/familial-hypercholesterolemia/

  Familial Hypercholesterolemia (FH) is an inherited disorder that affects your bodys ability to clear a specific type of cholesterol, known as LDL-C. Increased levels of LDL-C can cause atherosclerosis, which is deposits of plaque in your arteries. It can also affect how blood flows through your body leading to circulation abnormalities. This can lead to early heart attacks, strokes, and peripheral artery disease. […] Cholesterol-lowering medicine is the most important part of treating FH. Patients with FH have levels of cholesterol that are too high to bring to normal with only a healthy diet and physical activity. […] If you have FH, controlling your other risk factors for heart disease is important. Do not smoke cigarettes. Have your blood pressure checked. Take your blood pressure medicine regularly if prescribed. Strive for a healthy weight and get regular exercise.

• #11 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. […] If you have FH: ASK your healthcare provider about cholesterol-lowering medicines, TAKE YOUR MEDICINE as directed, Know that HEALTHY LIFESTYLE is important but often NOT ENOUGH, CHECK your cholesterol regularly, TALK to your FAMILY about getting tested for FH.

• #12 Familial Hypercholesterolemia Patient Information – PCNA

  https://pcna.net/resources/patient-education/patient-information/familial-hypercholesterolemia/

  Even if you are taking cholesterol-lowering medicine, it is still important to eat healthy foods. Talk to your nurse or doctor about a heart-healthy diet. A dietitian can also give you tips about ways to make healthy changes in the foods you eat. […] Screening all family members for FH is important. […] Children need a heart-healthy diet and regular physical activity. […] Some children with FH will require medication at a young age. […] Follow-up and taking prescribed cholesterol medicines throughout your lifetime is very important. […] A heart-healthy diet and regular physical activity will help to lower your heart disease risk.

• #13 Familial hypercholesterolaemia: evolving knowledge for designing adaptive models of care | Nature Reviews Cardiology

  https://www.nature.com/articles/s41569-019-0325-8

  Optimal care for familial hypercholesterolaemia (FH) requires patient-centred management, multidisciplinary teamwork, involvement of primary care practitioners, patient networks, support groups and high-quality clinical registries, implemented through models of care adapted to FH. […] Models of care evidence-based and context-specific frameworks that aim to deliver the highest quality of care for patients and their families allow the application of precision and multidisciplinary medicine to FH care and can serve as paradigms for the prevention of premature atherosclerotic cardiovascular disease in all at-risk patients and families worldwide. […] Management entails the timely lowering of LDL-cholesterol burden by lifestyle modifications and the use of statins, followed by ezetimibe and PCSK9 inhibitors if required; women and children need special care, and lipoprotein apheresis is indicated in patients with severe FH. […] Effective models of care require multidisciplinary teams, patient networks, registries and research programmes; implementation remains a major challenge. […] The evidence reviewed can be used to design adaptive models of care for FH.

• #14 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

  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. […] If you or a family member have FH or high LDL cholesterol, it is important to maintain a healthy lifestyle along with taking your medicine. […] Making healthy lifestyle changes for your family can benefit your children who may be at risk for FH and promote healthy habits that they will continue as adults.

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

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

  LDL apheresis should begin as early as age 5 years and no later than age 8 years. […] For homozygous FH patients, the LDL cholesterol targets are 100 mg/dL for adults, 70 mg/dL for adults with clinical cardiovascular disease (CVD), and 135 mg/dL for children. […] Other novel agents for LDL cholesterol lowering (eg, lomitapide with or without apheresis) can be considered as adjunctive treatments for patients who do not achieve the recommended LDL cholesterol targets and remain at high cardiovascular risk. […] Because of improved diet normally results in upregulation of LDL receptors, the impact of diet changes on LDLc levels in homozygous patients is negligible (there are no receptors to upregulate), but lifestyle changes have other cardiovascular benefits and should be strongly encouraged.

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

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

  Healthy-lifestyle habits also can help reduce the risk of heart disease, and some may lower your cholesterol: Lose extra pounds. Losing weight can help lower cholesterol. […] Exercise regularly. With your doctor’s OK, work up to at least 30 minutes of moderate-intensity exercise five times a week.

• #17 Genetic factors and cholesterol | Better Health Channel

  https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/genetic-factors-and-cholesterol

  Familial hypercholesterolaemia is an inherited condition characterised by higher than normal levels of blood cholesterol. […] Treatment includes dietary modifications, regular exercise, avoiding smoking, and the use of cholesterol-lowering drugs. […] There is no cure for familial hypercholesterolaemia. Treatment aims to reduce the persons risk of coronary artery disease and heart attack, and may include: […] Dietary changes recommended dietary changes include reduced intake of saturated fats and cholesterol-rich foods, and increased intake of fibre. Modifying the diet is usually the first line of treatment. […] Exercise regular exercise has been shown to reduce blood cholesterol levels. Any exercise program should be supervised by your doctor. […] Avoid smoking cigarette smoke encourages cholesterol to stick to artery walls. Quitting can significantly reduce your risk of heart attack. […] Medication very few people with familial hypercholesterolaemia will be able to reduce their cholesterol levels by diet and lifestyle changes alone. Most will need special cholesterol-lowering drugs.

• #18 Familial Hypercholesterolemia: Symptoms & Treatment

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

  With early treatment for FH, the outlook (prognosis) is excellent. […] If you have familial hypercholesterolemia, you can lower your risk of cardiovascular problems in these ways: Take medicines your provider prescribes. Get regular physical activity (at least 30 minutes a day or 150 minutes a week). Stay at a weight that’s healthy for you. […] Regular appointments with your healthcare provider are crucial to make sure your medication is working. Contact your provider if you’re having trouble with side effects from your medicine. […] You may feel scared or discouraged when you find out you have familial hypercholesterolemia. But getting a diagnosis is the first step toward lowering your risk of heart attack and stroke.

• #19 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. […] 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 checking cholesterol levels in close relatives, doing genetic testing in families to confirm diagnosis (cascade testing), and connecting to our pediatric partners specialists who treat FH when children are diagnosed. […] UT Southwestern offers specialized services to support patients with heart disease and their families.

• #20 Familial Hypercholesterolemia (FH) (for Parents) – Nicklaus Children’s Hospital

  https://kidshealth.org/NicklausChildrens/en/parents/familial-hypercholesterolemia.html?WT.ac=p-ra

  Familial hypercholesterolemia is a condition that causes very high levels of LDL (bad) cholesterol. […] Early diagnosis in children can prevent heart disease, and also can help doctors diagnose the condition in you, your partner, your other children, or other family members. […] Because symptoms dont always happen, its important to make sure your child has regular checkups, especially if you have a family history of high cholesterol. […] 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. […] 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. […] Encourage everyone in your family to be physically active, follow a healthy diet, and regularly see a doctor.

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

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

  People have the right to be involved in discussions and make informed decisions about their care, as described in NICE’s information on making decisions about your care. […] When offering lipid-modifying drug therapy to adults with FH, healthcare professionals should inform the person that this treatment should be lifelong. […] Healthcare professionals should offer adults with FH a referral to a specialist with expertise in FH if treatment with the maximum tolerated dose of a high-intensity statin and ezetimibe does not achieve a recommended reduction in LDLC concentration of greater than 50% from baseline (that is, LDLC concentration before treatment). […] Healthcare professionals should offer all children and young people diagnosed with, or being investigated for, a diagnosis of FH a referral to a specialist with expertise in FH in children and young people. This should be in an appropriate child and young person-focused setting that meets the standards within the National service framework for children, young people and maternity services.

• #22 Reviewing Evidence on the Screening, Diagnosis, and Care of Familial Hypercholesterolemia – The Cardiology Advisor

  https://www.thecardiologyadvisor.com/home/topics/metabolic/dyslipidemia/familial-hypercholesterolemia-is-one-of-the-most-clinically-relevant-monogenic-disorders-contributing-to-ascvd/

  Cumulative lifetime exposure to elevated LDL-C is the key factor driving ASCVD risk in asymptomatic patients with FH, further underscoring the need for timely diagnosis and risk stratification. […] Emerging evidence continues to support aggressive cholesterol-lowering therapy and lifestyle management in patients with FH from as young as 8 years to maximally mitigate the cumulative cholesterol burden of risk. […] The review authors emphasize the importance of patient-centered care and shared decision making, although health literacy is a challenge that may need to be addressed with some patients. […] While there is insufficient evidence to develop strictly defined LDL-C treatment targets, current evidence-based recommendations stipulate that in adult patients with FH, statin therapy and diet should initially be targeted to achieve a 50% reduction in LDL-cholesterol level and an LDL-cholesterol level 1.8 mmol/l (70 mg/dl) or 2.6 mmol/l (100 mg/dl) for primary prevention, and 1.4 mmol/l (55 mg/dl) or 1.8 mmol/l (70 mg/dl) for secondary prevention or for patients at very high risk.

• #23 Reviewing Evidence on the Screening, Diagnosis, and Care of Familial Hypercholesterolemia – The Cardiology Advisor

  https://www.thecardiologyadvisor.com/home/topics/metabolic/dyslipidemia/familial-hypercholesterolemia-is-one-of-the-most-clinically-relevant-monogenic-disorders-contributing-to-ascvd/

  The addition of ezetimibe is indicated in patients who do not achieve the recommended LDL-C levels with statins alone. […] Extensive evidence supports the treatment of FH starting in childhood, as modest and sustained reductions in LDL-cholesterol levels from early life can have a major effect on reducing mortality associated with ASCVD. […] Initial therapy is based on lifestyle management in early childhood, with the addition of statins by age 10 years in children with HeFH and upon diagnosis in children with hoFH. […] Ongoing research is investigating the efficacy and safety of PCSK9 inhibitors in children with heFH or hoFH. […] Lipoprotein apheresis may be required in severe cases of FH, including in pregnant women, and liver transplantation remains the only curative therapy for patients with severe hoFH.

• #24 ClinMed International Library | Familial Hypercholesterolemia and Pregnancy: Risk and Management | Obstetrics and Gynaecology Cases – Reviews

  https://clinmedjournals.org/articles/ogcr/obstetrics-and-gynaecology-cases-reviews-ogcr-2-066.php?jid=ogcr

  Familial hypercholesterolemia (FH) is a dominantly inherited disorder present from birth with elevated levels of low-density lipoprotein (LDL) cholesterol and increased risk for premature coronary heart disease (CHD) with clinical manifestation between the first and the fourth decades of life. […] Although statins are the most effective therapy for individuals with FH the use of statins is contraindicated during pregnancy. […] For this reason, before of a pregnancy the lipid-lowering drugs are discontinued because of possible teratogenic effects with modifications in estrogen and progesterone levels that negatively influence the lipid metabolism. […] There are limited therapeutic options available to treat pregnant women with FH and the potential risks to mother and fetus related to elevated cholesterol levels are a certainty.

• #25 ClinMed International Library | Familial Hypercholesterolemia and Pregnancy: Risk and Management | Obstetrics and Gynaecology Cases – Reviews

  https://clinmedjournals.org/articles/ogcr/obstetrics-and-gynaecology-cases-reviews-ogcr-2-066.php?jid=ogcr

  Regarding how to treat these women during pregnancy remains a challenge. […] Treatment consists in modifications of lifestyle (appropriate nutrition and physical activity are recommended for women with FH in pregnant), as well as aggressive cholesterol reduction with pharmacologic therapy. […] Currently, statins are the mainstay of the treatment of hypercholesterolemia, and it is therefore tempting to consider these drugs for treatment of hypercholesterolemia during pregnancy. […] However, statins have shown teratogenic effects in animal studies. […] The Food and Drug Administration (FDA) classifies the statins as category X in pregnancy. […] Women of childbearing age should be counseled to stop taking these medications at least 1 month before of the contraceptive therapy. […] The International FH Foundation recommends that all women of child-bearing age should receive pre-pregnancy counseling with appropriate advice given by the clinician on contraception, before starting a statin and this should be reinforced at annual review.

• #26 ClinMed International Library | Familial Hypercholesterolemia and Pregnancy: Risk and Management | Obstetrics and Gynaecology Cases – Reviews

  https://clinmedjournals.org/articles/ogcr/obstetrics-and-gynaecology-cases-reviews-ogcr-2-066.php?jid=ogcr

  Statins and other lipid systemically absorbed lipid-regulating drugs should be discontinued 3 months before planned conception, as well as during pregnancy and breastfeeding. […] The management of FH becomes challenging in the women who have or wish to become pregnant because cholesterol levels increase during pregnancy and statins are contraindicated (Category X) during pregnancy and lactation. […] In conclusion, in the future it will be very important to do studies that focus on therapeutic strategies that can give safely lower cholesterol levels during pregnancy in these women.

• #27 Identification and management of familial hypercholesterolaemia: what does it mean to primary care? | British Journal of General Practice

  https://bjgp.org/content/59/567/773

  Identify patients to refer back to specialist: patients that have developed further coronary heart disease risk factors; side-effects noted with lipid-lowering treatment that compromise treatment adherence; LDL cholesterol not controlled by maximal standard therapy; to instigate cascade screening of other family members; those that develop symptoms or signs of coronary heart disease or being diagnosed with coronary heart disease; pregnancy and pre-pregnancy care; and all children with suspected familial hypercholesterolaemia referred (back) by the age of 10 years or the earliest opportunity thereafter. […] GPs should encourage index cases with familial hypercholesterolaemia to discuss screening with relatives, while relatives directly contacting clinicians should be offered referral. […] All pregnant women with familial hypercholesterolaemia should be referred early to a shared care team comprising an experienced obstetrician and a cardiologist.

• #28 Genetic Testing for Familial Hypercholesterolemia

  https://member.bluechoicesc.com/web/public/brands/medicalpolicy/external-policies/genetic-testing-for-familial-hypercholesterolemia/

  For all other situations not described above, genetic testing to confirm a diagnosis of FH is considered NOT MEDICALLY NECESSARY. […] The EAS also recommends that cascade testing be performed when a causative mutation is known in an index case of heterozygous FH. […] Genetic testing for patients with suspected FH should, at a minimum, include analysis of LDLR, APOB, and PCSK9. […] The AHA also recommended that Genetic counseling for FH can help patients and their families complete their pedigree and understand the inheritance of FH and the personal and familial implications of the diagnosis. […] The NLA also published a statement on genetic testing for dyslipidemia in 2020. This statement has been reaffirmed in June 2021. The FH-related recommendations are listed below: Genetic testing is reasonable when heterozygous familial hypercholesterolemia is suspected but not definitively diagnosed based on clinical criteria alone. […] Cascade screening for FH either by lipid profile or genetic testing is recommended in all first-degree relatives (children and siblings) of an individual who has tested genetically positive for FH.

• #29 Genetic Testing for Familial Hypercholesterolemia

  https://member.bluechoicesc.com/web/public/brands/medicalpolicy/external-policies/genetic-testing-for-familial-hypercholesterolemia/

  Genetic counseling is strongly recommended for individuals pursuing genetic testing for familial hypercholesterolemia. […] Genetic testing to establish a molecular diagnosis of familial hypercholesterolemia (FH) is considered MEDICALLY NECESSARY when both of the following criteria are met: When FH is clinically suspected (based on clinical features, family history, physical exam, lipid levels, etc.) and a definitive diagnosis is required; When the result of the test will directly impact the treatment being delivered to the individual. […] For asymptomatic close blood relatives of an individual affected with FH, genetic testing for a known familial mutation associated with FH is considered MEDICALLY NECESSARY. […] The following does not meet coverage criteria due to a lack of available published scientific literature confirming that the test(s) is/are required and beneficial for the diagnosis and treatment of an individual’s illness.

• #30 Familial hypercholesterolaemia – enhancing the care of patients and families | Medicine Today

  https://medicinetoday.com.au/mt/supplements/feature-article/familial-hypercholesterolaemia-enhancing-care-patients-and-families

  Familial hypercholesterolaemia (FH) is a common genetic disorder of LDL-cholesterol, that, if untreated, leads to premature atherosclerotic cardiovascular disease (ASCVD). With early diagnosis and initiation of cholesterol-lowering treatment, the risk of ASCVD can be substantially reduced. Yet, many people with FH remain undiagnosed and undertreated. GPs can play an important role in the care of patients and families with FH. […] A multidisciplinary approach and integration of services are required to implement optimal care of patients and families with FH. […] GPs are ideally placed to enhance the care of patients and families with FH. […] Earlier diagnosis and initiation of effective cholesterol-lowering treatments is required to reduce the burden of ASCVD in patients and their families with FH. Effective implementation of FH care requires an integrated health system approach, with shared care between GPs and other specialities.

• #31 Identification and management of familial hypercholesterolaemia: what does it mean to primary care? | British Journal of General Practice

  https://bjgp.org/content/59/567/773

  Familial hypercholesterolaemia is one of the most common dominantly inherited disorders to be identified in primary care, leading to raised serum cholesterol evident from the first year of life. […] Primary care has a role in systematic and opportunistic case finding, such as recognising the relevance of a family history of premature coronary heart disease and/or grossly elevated cholesterol. […] Although affected individuals need specialist care, GPs can reinforce the information provided by specialists and support cascade screening to other affected members of the extended family. […] Patients with familial hypercholesterolaemia usually require potent statins to achieve adequate LDL-cholesterol lowering. […] Monitor and support adherence to lipid-lowering treatment and lifestyle advice (smoking cessation, exercise and dietary improvement).

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

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

  Healthcare professionals should regard lifestyle advice as a component of medical management, and not as a substitute for lipid-modifying drug therapy. […] Healthcare professionals should consider offering LDL apheresis for the treatment of adults and children and young people with homozygous FH. […] All people with FH should be offered a regular structured review that is carried out at least annually. […] Healthcare professionals should offer people with FH an urgent referral to a specialist with expertise in cardiology for evaluation if they have symptoms or signs of possible coronary heart disease which are not immediately life-threatening.

• #33 Familial hypercholesterolaemia: identification and management – The Pharmaceutical Journal

  https://pharmaceutical-journal.com/article/ld/familial-hypercholesterolaemia-identification-and-management

  After reading this article, you should be able to: […] Understand the role of pharmacists and pharmacy technicians in identifying patients at risk of FH and referring them for genetic testing and family tracing; […] Primary care networks, including pharmacists and pharmacy teams, are supporting this commitment by identifying people who have risk factors for FH and facilitating referral to secondary care services for genetic counselling and diagnostic testing. […] This article provides an overview of the symptoms, diagnostic criteria and management of FH, and describes how pharmacists and their teams working across sectors can contribute to improving outcomes for these patients. […] A heart-healthy lifestyle, including keeping active, diet, weight management, avoiding smoking, good blood pressure control and moderation of alcohol, is recommended. All pharmacy teams, regardless of setting, should take every opportunity to offer advice and support on healthy lifestyle and diet.

• #34

  https://www.nursingcenter.com/journalarticle?Article_ID=3602646&Journal_ID=54012&Issue_ID=3602590

  Abstract: Treatment of familial hypercholesterolemia can change the natural course of the disease to prevent premature atherosclerotic cardiovascular disease. […] New guidelines assist the clinician in the early identification of this common genetic disorder of lipid metabolism by placing individuals with elevated low-density lipoprotein cholesterol levels in high-risk groups who benefit from treatment with statins.

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