Hipercholesterolemia rodzinnego występowania
Zapobieganie i profilaktyka

Hipercholesterolemia rodzinna (FH) to genetyczne zaburzenie charakteryzujące się znacznym podwyższeniem poziomu cholesterolu LDL, co zwiększa ryzyko przedwczesnej choroby sercowo-naczyniowej (ASCVD). Wczesne rozpoznanie, oparte na wywiadzie rodzinnym, badaniu klinicznym, oznaczeniu lipidów oraz badaniach genetycznych (analiza genów LDLR, APOB, PCSK9), jest kluczowe dla skutecznej profilaktyki. Badania kaskadowe u krewnych pierwszego stopnia oraz przesiewowe u dzieci (zalecane między 2 a 11 rokiem życia) umożliwiają wczesną identyfikację. Leczenie obejmuje modyfikację stylu życia (dieta śródziemnomorska, aktywność fizyczna, zaprzestanie palenia) oraz farmakoterapię, której celem jest redukcja LDL-C o co najmniej 50%. Docelowe poziomy LDL-C to <2,5 mmol/l (100 mg/dl) u pacjentów bez choroby sercowo-naczyniowej, <1,8 mmol/l (70 mg/dl) u chorych z ASCVD, a u dzieci odpowiednio <3,4 mmol/l (<130 mg/dl) i <3,5 mmol/l (<135 mg/dl). W terapii pierwszej linii stosuje się statyny, przy poziomie LDL-C ≥190 mg/dl, z możliwością dodania ezetimibu i inhibitorów PCSK9 w przypadku niewystarczającej odpowiedzi. U pacjentów z homozygotyczną FH (HoFH) rozważa się mipomersen, lomitapid, aferezę lipoprotein (LA) oraz ortotopową transplantację wątroby (OLT) w przypadkach opornych na leczenie.

  1. Profilaktyka rodzinnej hipercholesterolemii
    1. Znaczenie wczesnej diagnostyki
    2. Badania przesiewowe
  2. Strategie profilaktyczne
    1. Modyfikacja stylu życia
    2. Farmakoterapia
    3. Afereza lipoprotein
    4. Transplantacja wątroby
  3. Profilaktyka u dzieci
  4. Profilaktyka w kontekście COVID-19
  5. Znaczenie badań kaskadowych
  6. Cele terapeutyczne
  7. Profilaktyka w społeczeństwie
  8. Rola genetyki w profilaktyce
  9. Wnioski i rekomendacje
    1. Kolejne rozdziały

Profilaktyka rodzinnej hipercholesterolemii

Hipercholesterolemia rodzinnego występowania (FH) jest zaburzeniem genetycznym charakteryzującym się znacznie podwyższonym poziomem cholesterolu LDL we krwi, co prowadzi do zwiększonego ryzyka przedwczesnej choroby sercowo-naczyniowej (ASCVD). Wczesne rozpoznanie i odpowiednie leczenie mają kluczowe znaczenie w profilaktyce powikłań i wydłużeniu życia pacjentów z tym schorzeniem12.

Znaczenie wczesnej diagnostyki

Wczesna identyfikacja osób z FH jest fundamentalna w profilaktyce chorób sercowo-naczyniowych. Badania wykazały, że wczesne rozpoznanie i leczenie FH może zmniejszyć ryzyko choroby wieńcowej nawet o 80%12. Istotne jest, aby pacjenci z FH byli diagnozowani przed wystąpieniem objawów klinicznych, co umożliwia wdrożenie odpowiednich działań prewencyjnych1.

Rozpoznanie FH opiera się głównie na wywiadzie rodzinnym, badaniu klinicznym i oznaczeniu poziomu lipidów we krwi. Szczegółowy wywiad rodzinny jest kluczowym elementem w rozpoznaniu FH1. Dodatkowo, w celu potwierdzenia diagnozy, można przeprowadzić badania genetyczne, które stanowią złoty standard w rozpoznaniu tej choroby1.

Badania przesiewowe

W profilaktyce FH kluczową rolę odgrywają różne strategie badań przesiewowych12:

  • Badania kaskadowe – badanie pierwszego, drugiego i trzeciego stopnia krewnych pacjenta z rozpoznaną FH za pomocą testów genetycznych i pomiaru cholesterolu LDL1.
  • Badania przesiewowe u dzieci – Amerykańskie Towarzystwo Kardiologiczne zaleca badania przesiewowe dzieci w wieku 9-11 lat w celu wczesnej identyfikacji FH1.
  • Badania ukierunkowane – badanie przesiewowe pacjentów z ASCVD jest skuteczną strategią identyfikacji nowych przypadków FH1.

12

W przypadku zdiagnozowania FH, badania przesiewowe powinny objąć również rodzeństwo, rodziców i dzieci pacjenta. Badania dzieci można rozpocząć już w wieku 2 lat, jeśli istnieje wysokie ryzyko FH1.

Strategie profilaktyczne

Modyfikacja stylu życia

Pomimo że zmiany stylu życia same w sobie nie są wystarczające do obniżenia poziomu cholesterolu u pacjentów z FH, stanowią one istotny element kompleksowego leczenia12. Zdrowy styl życia może pomóc zredukować inne czynniki ryzyka chorób sercowo-naczyniowych1:

  • Dieta – Ograniczenie spożycia tłuszczów nasyconych i trans, ograniczenie cholesterolu w diecie oraz zwiększenie spożycia błonnika rozpuszczalnego12. Dieta śródziemnomorska jest zalecanym modelem żywieniowym w profilaktyce sercowo-naczyniowej, także u pacjentów z FH1.
  • Aktywność fizyczna – Regularna aktywność fizyczna (min. 30 minut umiarkowanej intensywności ćwiczeń pięć razy w tygodniu)1.
  • Utrzymanie prawidłowej masy ciała – Redukcja masy ciała może pomóc obniżyć poziom cholesterolu1.
  • Zaprzestanie palenia – Niepalenie tytoniu jest szczególnie ważne dla osób z FH1.

123

Chociaż interwencje żywieniowe i zmiana stylu życia są pierwszym krokiem w leczeniu pacjentów z FH, same zmiany w stylu życia są niewystarczające i przynoszą tylko umiarkowane obniżenie cholesterolu LDL (o 10-15%)12.

Farmakoterapia

Farmakoterapia jest podstawą leczenia FH i powinna być wdrożona jak najwcześniej, aby zmniejszyć ryzyko chorób sercowo-naczyniowych12. Głównym celem leczenia jest obniżenie poziomu cholesterolu LDL o co najmniej 50% w stosunku do wartości wyjściowych1.

Pierwszą linią leczenia są statyny, które należy rozpocząć jak najwcześniej, szczególnie jeśli poziom LDL-C wynosi ≥190 mg/dl1. U dzieci z FH terapia statynami może być konieczna już od 8-10 roku życia1. Badania wykazały, że wczesne rozpoczęcie leczenia statynami może znacząco obniżyć ryzyko ASCVD1.

W przypadku niewystarczającej odpowiedzi na statyny, można dodać ezetimib jako terapię drugiej linii1. Jeśli leczenie skojarzone maksymalnie tolerowaną dawką statyny i ezetimibem nie obniża wystarczająco poziomu LDL-C, należy rozważyć włączenie inhibitora PCSK91.

U pacjentów z homozygotyczną postacią FH (HoFH) mogą być stosowane również inne leki, takie jak mipomersen i lomitapid1.

Afereza lipoprotein

Afereza lipoprotein (LA) jest metodą leczenia stosowaną u pacjentów, u których farmakoterapia nie przynosi wystarczających efektów1. Polega ona na usuwaniu krążących cząsteczek LDL oraz innych cząsteczek aterogennych z krwi1. Jest to bezpieczna i skuteczna metoda leczenia pacjentów z HoFH, szczególnie w połączeniu ze statynami i ezetimibem1.

W Stanach Zjednoczonych LA jest zalecana dla pacjentów z HoFH z poziomem LDL ≥500 mg/dl lub pacjentów z heterozygotyczną postacią FH (HeFH) z poziomem LDL ≥300 mg/dl lub ≥200 mg/dl z udokumentowaną chorobą wieńcową1.

Transplantacja wątroby

Ortotopowa transplantacja wątroby (OLT) pozostaje jedyną leczniczą opcją dla pacjentów z homozygotyczną FH, którzy nie osiągają optymalnych poziomów LDL po leczeniu farmakologicznym i dla tych, którzy nie tolerują aferezy lipoprotein1. Jest to procedura, w której chirurg usuwa wątrobę pacjenta i zastępuje ją wątrobą dawcy bez FH, co może przywrócić normalny poziom cholesterolu1.

Profilaktyka u dzieci

Wczesna identyfikacja i leczenie dzieci z FH jest szczególnie ważna, ponieważ pozwala na wczesną interwencję i zapobieganie rozwojowi miażdżycy1. Idealne okno czasowe do diagnozy FH to okres dzieciństwa i wczesna adolescencja1.

Badania przesiewowe u dzieci powinny być przeprowadzane selektywnie po 2 roku życia, idealnie między 2 a 10 rokiem życia1. Amerykańskie Towarzystwo Kardiologiczne zaleca badania przesiewowe dzieci w wieku 9-11 lat1.

W przypadku zdiagnozowania FH u dziecka, leczenie obejmuje12:

  • Modyfikację stylu życia – powinna być pierwszą linią leczenia u dzieci z FH.
  • Farmakoterapię – statyny mogą być zalecane od 8-10 roku życia, jeśli metody niefarmakologiczne są nieskuteczne przez 3-6 miesięcy.
  • Regularną kontrolę – monitorowanie poziomu lipidów i ocena efektów leczenia.

12

Celem leczenia u dzieci z FH powyżej 10 roku życia jest obniżenie poziomu LDL-C poniżej 3,4 mmol/l (lub 3,5 mmol/l według niektórych wytycznych)1.

Profilaktyka w kontekście COVID-19

Osoby z FH stanowią grupę medycznie wrażliwą, z podwyższonym ryzykiem zakażenia COVID-19 i związanych z nim powikłań1. Wysokie stężenie cholesterolu LDL stanowi główną przyczynę zwiększonej podatności na zakażenie COVID-19 u pacjentów z FH1.

Przedłużona ekspozycja na podwyższony poziom LDL prowadzi do dysfunkcji śródbłonka, co może być pogorszone przez COVID-19 i zwiększać ryzyko ostrego zdarzenia sercowo-naczyniowego1.

W kontekście profilaktyki u pacjentów z FH podczas pandemii COVID-19 zaleca się123:

  • Kontynuację lub intensyfikację leczenia obniżającego poziom lipidów.
  • Stosowanie wysokich dawek statyn o wysokiej intensywności (atorwastatyna 40 lub 80 mg dziennie lub rosuwastatyna 20 lub 40 mg dziennie).
  • Pomiar lipoproteiny(a) lub LP(a) u wszystkich osób z FH – wiedza o podwyższonym poziomie Lp(a) jest ważna w przewidywaniu przebiegu COVID-19.
  • Ścisłe przestrzeganie wytycznych Centrów Kontroli i Zapobiegania Chorobom (CDC) dotyczących profilaktyki.

123

Znaczenie badań kaskadowych

Badania kaskadowe są najbardziej efektywną kosztowo strategią identyfikacji nowych przypadków FH1. Polegają one na badaniu lipidów i/lub testach genetycznych u krewnych pacjenta z rozpoznaną FH1.

Po rozpoznaniu FH u pacjenta, należy przeprowadzić badania kaskadowe u jego krewnych pierwszego stopnia (rodzeństwo, rodzice, dzieci). Badania te powinny obejmować pomiar poziomu cholesterolu i/lub badania genetyczne1.

Badania kaskadowe mają szereg zalet12:

  • Umożliwiają wczesne wykrycie FH i wdrożenie leczenia.
  • Są efektywne kosztowo.
  • Pozwalają zidentyfikować osoby, które mogą być dotknięte chorobą, ale nie mają jeszcze objawów.
  • Najlepsza strategia to połączenie pomiaru LDL-C i analizy genetycznej, jeśli dostępne są wystarczające zasoby.

12

Aby program badań kaskadowych był skuteczny, konieczne jest zaangażowanie systemu podstawowej opieki zdrowotnej, w tym lekarza rodzinnego, w identyfikację pacjenta i w późniejsze diagnozy podczas badania członków rodziny1.

Cele terapeutyczne

Głównym celem leczenia FH jest zmniejszenie ryzyka chorób sercowo-naczyniowych poprzez obniżenie poziomu cholesterolu LDL1. Cel leczenia to obniżenie poziomu LDL-C o co najmniej 50% w stosunku do wartości wyjściowych1.

Szczegółowe cele terapeutyczne różnią się w zależności od ryzyka sercowo-naczyniowego pacjenta12:

  • Dla pacjentów z FH i bez choroby sercowo-naczyniowej (profilaktyka pierwotna) – docelowy poziom LDL-C poniżej 2,5 mmol/l (100 mg/dl) lub zmniejszenie LDL-C o co najmniej 50%.
  • Dla pacjentów z FH i z chorobą sercowo-naczyniową (profilaktyka wtórna) – docelowy poziom LDL-C poniżej 1,8 mmol/l (70 mg/dl).
  • Dla dzieci poniżej 10 roku życia z FH – docelowy poziom LDL-C poniżej 3,4 mmol/l.
  • Dla dzieci powyżej 10 roku życia z FH – docelowy poziom LDL-C poniżej 3,5 mmol/l.

123

Pacjenci z FH i dodatkowymi czynnikami ryzyka, takimi jak cukrzyca, podwyższony poziom Lp(a) ≥50 mg/dl, poziom LDL-C przed leczeniem ≥6,72 mmol/l, wywiad rodzinny w kierunku przedwczesnej choroby wieńcowej lub zaawansowany wiek, powinni być uznani za osoby o bardzo wysokim ryzyku1.

Profilaktyka w społeczeństwie

Profilaktyka FH na poziomie społeczeństwa wymaga zwiększenia świadomości i edukacji zarówno wśród pracowników służby zdrowia, jak i w społeczeństwie12. Kluczowe elementy profilaktyki na poziomie społeczeństwa obejmują:

  • Edukację – Zwiększenie świadomości na temat FH wśród lekarzy, szczególnie kardiologów i lekarzy podstawowej opieki zdrowotnej1.
  • Programy badań przesiewowych – Wdrożenie systematycznych programów badań przesiewowych, w tym badań kaskadowych1.
  • Rejestry danych – Tworzenie rejestrów danych i centralnych repozytoriów próbek biologicznych1.
  • Krajowe plany badań przesiewowych – Wdrożenie krajowych planów badań przesiewowych w kierunku FH1.

12

Centra Kontroli i Zapobiegania Chorobom (CDC) uznają FH za zaburzenie genomowe pierwszego poziomu, co oznacza, że istnieją wystarczające dowody na korzyści zdrowotne z wdrożenia badań przesiewowych opartych na wywiadzie rodzinnym, badaniach kaskadowych lub innych strategiach1.

Rola genetyki w profilaktyce

Badania genetyczne odgrywają istotną rolę w profilaktyce FH, umożliwiając dokładną diagnozę i umożliwiając kaskadowe badania rodzinne1. Najbardziej dokładnym sposobem diagnozowania FH jest test genetyczny, który identyfikuje obecność patogennych wariantów upośledzających funkcję receptora LDL i powodujących hipercholesterolemię1.

Badania genetyczne powinny obejmować co najmniej analizę genów LDLR, APOB i PCSK91. Badania kaskadowe z użyciem testów genetycznych powinny być oferowane wszystkim krewnym pierwszego stopnia osób z genetyczną diagnozą FH1.

Korzyści z badań genetycznych w profilaktyce FH obejmują12:

  • Dokładną diagnozę FH.
  • Możliwość stratyfikacji ryzyka.
  • Efektywne kosztowo wdrożenie terapii obniżających poziom lipidów.
  • Kaskadowe badania rodzinne.

12

Fundacja FH zaleca badania genetyczne u pacjentów z definitywnym lub prawdopodobnym FH oraz kaskadowe badania przesiewowe krewnych pierwszego stopnia1.

Wnioski i rekomendacje

Profilaktyka hipercholesterolemii rodzinnego występowania wymaga kompleksowego podejścia, obejmującego wczesną diagnostykę, agresywne leczenie i regularną kontrolę1. Kluczowe rekomendacje obejmują:

  • Wczesną identyfikację osób z FH poprzez badania przesiewowe1.
  • Wdrożenie badań kaskadowych u krewnych pacjentów z rozpoznaną FH1.
  • Agresywne leczenie obniżające poziom cholesterolu LDL, z celem redukcji o co najmniej 50% w stosunku do wartości wyjściowych1.
  • Modyfikację stylu życia, w tym dietę, aktywność fizyczną i zaprzestanie palenia1.
  • Regularną kontrolę i monitorowanie poziomu lipidów1.
  • Zwiększanie świadomości na temat FH zarówno wśród pracowników służby zdrowia, jak i w społeczeństwie1.

1234567

Dzięki wczesnej identyfikacji i odpowiedniemu leczeniu, osoby z FH mogą prowadzić długie i zdrowe życie, z ryzykiem chorób sercowo-naczyniowych porównywalnym do populacji ogólnej1. Dlatego tak ważne jest, aby zintensyfikować wysiłki na rzecz wczesnej diagnostyki i profilaktyki FH1.

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

  1. 10.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Prevention of cardiovascular disease in patients with familial hypercholesterolaemia: The role of PCSK9 inhibitors
    https://pmc.ncbi.nlm.nih.gov/articles/PMC5574519/
    Familial hypercholesterolaemia is an autosomal dominant inherited disorder characterised by elevated low-density lipoprotein cholesterol levels and consequently an increased risk of atherosclerotic cardiovascular disease (ASCVD). […] Given that individuals with familial hypercholesterolaemia and ASCVD are at a particularly high risk of subsequent cardiac events, this is a missed opportunity for preventive therapy. […] Targeted screening of patients with ASCVD is an effective strategy to identify new familial hypercholesterolaemia index cases. […] Increased awareness of familial hypercholesterolaemia is required among healthcare professionals, particularly cardiologists and primary care physicians, in order to start early preventive measures and to reduce the mortality and morbidity associated with familial hypercholesterolaemia and ASCVD.
  • #1 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
    Familial hypercholesterolemia (FH) is an inherited condition that causes high blood levels of low-density lipoprotein (LDL) cholesterol. […] Finding and treating FH early, with medicines such as statins, is important to prevent coronary artery disease. […] Finding and treating FH early REDUCES coronary artery disease risk by about 80%. […] Medicines, such as statins, are needed to help control cholesterol levels. […] If you have FH, finding the disorder early and treating it can reduce your risk of coronary artery disease by about 80%. […] 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. […] If you are concerned that you could have familial hypercholesterolemia or hereditary heart disease, the first step is to collect your family health history of heart disease and share this information with your healthcare provider.
  • #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
    Familial Hypercholesterolemia (FH) is an autosomal dominant condition that leads to extreme elevations in low density lipoprotein cholesterol (LDL-C). It can remain undiagnosed until a catastrophic cardiovascular (CV) event. Thus, without early detection, many patients will remain undertreated and have missed opportunities for CV prevention. […] Several tools and screening strategies have been developed to help guide clinicians to earlier diagnosis and treatment. […] Once an individual is identified with FH it is important to also determine who else in the family is at risk. A commonly used screening strategy is known as cascade screening where LDL-C measurement, genetic testing, or both are done in consenting relatives of patients with 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.
  • #1 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. […] 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 International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia | Nature Reviews Cardiology
    https://www.nature.com/articles/s41569-023-00892-0
    Early detection of FH is fundamental to all models of care for FH. […] Detection strategies include opportunistic, selective, systematic and universal screening, using phenotypic and genetic testing, with many of these approaches confirmed as being cost-effective. […] However, the best approach to detecting FH in primary care remains uncertain. […] Population modelling and implementation studies show that, to identify 90% of the population with FH, combining cascade testing of family members of affected individuals with some form of universal screening at younger ages may have the highest potential. […] The most accurate way to diagnose FH is by genetic testing, which identifies the presence of pathogenic variants that impair LDL receptor function and cause hypercholesterolaemia. […] Accordingly, the diagnosis of FH often relies on phenotypic criteria alone. […] Genetic and phenotypic testing are important for both assessing and managing patients with FH.
  • #1 Prevention of cardiovascular disease in patients with familial hypercholesterolaemia: The role of PCSK9 inhibitors
    https://pmc.ncbi.nlm.nih.gov/articles/PMC5574519/
    Prevention of ASCVD in individuals with FH is failing, partly because of underdiagnosis in this patient population. […] The underdiagnosis of FH among individuals with ASCVD has led to inadequate administration of therapy to prevent further ASCVD events. […] Given that appropriate treatment can reduce the risk of ASCVD, the issues of underdiagnosis and undertreatment of FH and ASCVD require attention. […] A systematic approach to screening is warranted. Cascade screening, whereby first, second and third-degree relatives of an established index case are assessed for FH via genetic testing and LDL-cholesterol measurement, has been shown to be a cost-effective approach. […] New PCSK9 inhibitors offer an effective and well tolerated treatment option for patients with FH.
  • #1 Familial Hypercholesterolemia: Screening, Diagnosis, and Treatment | AAFP
    https://www.aafp.org/pubs/afp/issues/2024/0900/editorial-hypercholesterolemia.html
    The American Heart Association endorses screening patients between 9 and 11 years of age to permit early identification of familial hypercholesterolemia and secondary cascade screening of other family members when a patient with familial hypercholesterolemia is identified. […] 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. […] 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.
  • #1 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. […] You cant prevent an inherited disease like familial hypercholesterolemia. But you can help your family get treatment early by letting them know about your diagnosis. […] People with FH are at a higher risk of heart disease at a younger age than those without FH. If you have familial hypercholesterolemia, your biological siblings, parents and children should get a test. You can start screening a child at age 2 if they have a high risk of FH. […] 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.
  • #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. […] A healthy lifestyle and physical activity are important but will not be enough to lower your cholesterol to a healthy level. […] 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. […] 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. […] 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.
  • #1 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: […] Losing weight can help lower cholesterol. […] Focus on plant-based foods, including fruits, vegetables and whole grains. Limit saturated fats and trans fats. […] With your doctor’s OK, work up to at least 30 minutes of moderate-intensity exercise five times a week. […] If you smoke, find a way to quit.
  • #1 Current Treatment of Familial Hypercholesterolaemia
    https://pmc.ncbi.nlm.nih.gov/articles/PMC6159444/
    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. […] Lifestyle modification is the foundation in the treatment of FH. […] While lifestyle modification is the first step in the treatment of FH patients, this strategy alone will be insufficient as the sole treatment to achieve LDL-C goal. […] Patients with LDL 190 mg/dl are identified within the new ACC/AHA 2013 Blood Cholesterol Guidelines as requiring pharmacologic intervention. […] 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.
  • #1 Dietary Approach in Familial Hypercholesterolemia
    https://www.mdpi.com/2035-8148/15/1/1
    The dietary approach is an important and supportive part of FH management. […] The Mediterranean diet is a dietary model advised in cardiovascular prevention, including patients with FH. […] Regarding detailed recommendations, the current state of knowledge indicates dietary fat and SFA intake limitation as an advised strategy. […] Supplementation of sterols and fiber can also be helpful. […] More studies focused on detailed dietary strategies and their genetic background response in FH are needed.
  • #1 What’s the difference between FH and standard high cholesterol? – BHF
    https://www.bhf.org.uk/informationsupport/heart-matters-magazine/medical/familial-hypercholesterolaemia
    It is particularly important that children and adults with FH dont start smoking, as this has a big impact on their future risk of heart disease. […] FH can be easily and effectively treated with a cholesterol-lowering statin. […] Regular follow-up appointments are important, too. Lifestyle changes can also reduce your risk of heart disease. […] There are several reasons, but one problem is that there is no national programme for FH in England, and official guidelines to improve screening and treatment are often not followed. This means that people are having heart attacks that could have been prevented. So its important to talk to your doctor if you think FH runs in your family.
  • #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. […] Early detection and treatment of FH is recommended to reduce risk of cardiovascular events. The goal of treatment is to reduce LDL-C by 50 % from baseline levels. […] Lifestyle modification, lipid-lowering therapy, LDL apheresis and in rare cases, liver transplant are the cornerstones of LDL-C lowering in patients with FH.
  • #1 The role of statins in FH and heart disease prevention – Family Heart Foundation
    https://familyheart.org/the-role-of-statins-in-fh
    Statins are one of the longest and most well-studied drugs that definitively provide positive results. In fact, the most-effective statins reduce cholesterol by 55-50% at their maximum dose. […] The current medical recommendations for individuals with FH are that statins are forever. Once a physician prescribes a statin for you, there is no indication or scenario for stopping them. For those with FH and genetic high cholesterol, stopping statins will inevitably lead to a rapid rise in LDL cholesterol levels and return of heart disease risk. […] Both the American Heart Association and the American Academy of Pediatrics have recommended statin therapy for children with lipid disorders such as familial hypercholesterolemia as early as 8 years of age. Lower-dose statin therapy started in children with FH between 8-10 years old have demonstrated long-term benefits, with a lower incidence of cardiovascular disease. […] For every new case of diabetes, 5 heart attacks are prevented by treatment and statins are a cornerstone of heart attack prevention in those with diabetes. […] In summary, statins are generally safe.
  • #1 Familial Hypercholesterolemia: Cardiovascular Risk Stratification and Clinical Management
    https://www.acc.org/Latest-in-Cardiology/Articles/2020/06/01/13/54/Familial-Hypercholesterolemia
    Universal screening at 9-11 years of age for elevated LDL-C is recommended by multiple organizations. LDL-C level greater than 190 mg/dL or LDL-C greater than 160 mg/dL coupled with a family history of premature CAD should prompt further evaluation for FH. […] FH remains a clinical diagnosis but can be confirmed by genetic testing. The FH Foundation recommends genetic testing in patients with definitive or probable FH along with cascade screening of first degree relatives. The presence of a causal genetic mutation carries significant risk that compounds the elevation in LDL-C. […] While therapeutic lifestyle changes are paramount in all individuals, these efforts alone may not decrease LDL-C to an adequate level in those with FH. High-intensity statin therapy should be initiated in all adult patients with goal LDL-C reductions 50% and/or achieved LDL-C 100 mg/dL in those without ASCVD. Stepwise intensification of pharmacotherapy should be initiated in all patients who fail to achieve LDL-C reductions and those with additional risk factors such as smoking, family history of premature ASCVD, and Lp(a) 50mg/dL. Ezetimibe is recommended as the second-line adjunctive therapy and is associated with LDL-C reductions of 20-24% above and beyond what is achieved with statin therapy. If combination therapy with maximally tolerated statin and ezetimibe fails to adequately reduce LDL-C, a PCSK9 inhibitor should be considered.
  • #1 Current Treatment of Familial Hypercholesterolaemia
    https://pmc.ncbi.nlm.nih.gov/articles/PMC6159444/
    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 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.
  • #1 International Atherosclerosis Society guidance for implementing best practice in the care of familial hypercholesterolaemia | Nature Reviews Cardiology
    https://www.nature.com/articles/s41569-023-00892-0
    Lipoprotein apheresis is a safe and effective means of treating patients with HoFH on a lifelong basis, especially in combination with statins and ezetimibe. […] However, its use in other forms of severe hyperlipidaemia, such as statin-refractory HeFH, is diminishing because of the efficacy of PCSK9 inhibitors. […] Despite the development of several international and country-specific guidelines for the care of FH, substantial gaps remain in their implementation into practice. […] Action is required to alter processes, structures and health-care teams to improve the organization and delivery of care.
  • #1 Current Treatment of Familial Hypercholesterolaemia | ECR Journal
    https://www.ecrjournal.com/articles/current-treatment-familial-hypercholesterolaemia?language_content_entity=en
    The goal of treatment is to reduce LDL-C by 50 % from baseline levels. […] 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. […] Once an accurate diagnosis is made of FH, cascade screening of all first-degree relatives is paramount. […] Given its association with improved LDL control, LA is approved in the United States for HoFH patients with LDL 500 mg/dL or HeFH patients with LDL 300 mg/dL or 200 mg/dL with documented coronary artery disease. […] 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 Current Treatment of Familial Hypercholesterolaemia
    https://pmc.ncbi.nlm.nih.gov/articles/PMC6159444/
    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 Homozygous familial hypercholesterolemia: A guide
    https://www.medicalnewstoday.com/articles/homozygous-familial-hypercholesterolemia
    Homozygous familial hypercholesterolemia (HoFH) is an inherited condition that increases blood cholesterol and a persons risk of heart disease. Medications can help lower blood cholesterol levels. […] Spotting these symptoms early in life is essential. Without treatment, children as young as 2 to 3 years can develop heart disease due to HoFH. […] Several medications can help bring down blood cholesterol levels and reduce the risk of severe heart problems in people with HoFH. […] If medications are ineffective, lipoprotein apheresis can help reduce LDL cholesterol by 20% to 40%. […] A liver transplant may return cholesterol to normal levels. In this procedure, a surgeon removes a persons liver and replaces it with a donor liver. However, doctors rarely recommend liver transplants for HoFH.
  • #1 Detecting Familial hypercholesterolemia in children and adolescents: potential and challenges | Italian Journal of Pediatrics | Full Text
    https://ijponline.biomedcentral.com/articles/10.1186/s13052-022-01257-y
    The improvement of public awareness about FH, especially in the community setting, needs to be addressed. […] Despite increasing knowledge about the prevalence and risks of FH, many health professionals do not make any link between FH and the patient’s clinical condition. […] The start of atherosclerosis prevention early in childhood is likely to result in a greater reduction in CVD morbidity and mortality than that achieved with current efforts aimed at preventing events in older adults. […] Early identification of children with FH is important to prevent atherosclerosis at the earliest stage of development, enables intervention at an early stage, when maximum benefit can still be obtained via lifestyle adaptations and therapy.
  • #1 Detecting Familial hypercholesterolemia in children and adolescents: potential and challenges | Italian Journal of Pediatrics | Full Text
    https://ijponline.biomedcentral.com/articles/10.1186/s13052-022-01257-y
    Screening strategies are summarized in Table 1 (Table1). National screening for cholesterol values, soon at birth or later on, is currently not recommended. […] On the other hand, selective screening should be recommended after the age of 2 years. […] Ideally, the screening should be proposed between 2 and 10 years of age. […] In recent years, many authors have highlighted that cascade screening of close relatives is generally highly acceptable and does not impact on the quality of life. […] Diagnosis in children should preferably be established by the detection of FH-causing mutation, which is the gold standard for diagnosis. […] It is increasingly recognized that childhood and early adolescence offer the most favorable timeframe for diagnosing FH, and also for introducing and maintaining lifelong treatment and management strategies.
  • #1 Guidance on the management of familial hypercholesterolaemia in Hong Kong: an expert panel consensus viewpoint | HKMJ
    https://www.hkmj.org/abstracts/v24n4/408.htm
    For very-high-risk patients, the target LDL-C level should be 1.8 mmol/L; for paediatric patients (10 years of age) with FH, the panel recommended that the target LDL-C level should be 3.4 mmol/L. […] All patients with a clinical diagnosis of FH should be counselled on lifestyle modification, particularly healthy eating, regular exercise and physical activity, weight control, and cessation of smoking. […] First-line treatment for hypercholesterolaemia for reducing the risk of CHD involves the use of 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors or statins, which significantly reduce the risk of CVD and progression of atherosclerosis in FH. […] The European Atherosclerosis Society Consensus Panel recommended early detection (from age 5 years, or earlier if HoFH is suspected) in children; the panel suggested lifestyle modification and statin therapy for the treatment of children with FH, as early as age 8 to 10 years.
  • #1 Managing the Interplay of Familial Hypercholesterolemia and COVID-19 – The Cardiology Advisor
    https://www.thecardiologyadvisor.com/features/managing-the-interplay-of-familial-hypercholesterolemia-and-covid-19/
    About 90% of those with familial hypercholesterolemia have not been diagnosed or treated for it, leaving them more vulnerable for COVID-19 infection and its complications. […] Individuals with FH comprise a medically vulnerable group with an elevated risk of COVID-19 infection and related complications. […] High low-density lipoprotein cholesterol (LDL-C) represents the root cause of the heightened susceptibility to COVID-19 infection in patients with FH. […] In addition to the important role of statin therapy in patients with FH, findings have generally demonstrated benefits of statin use in individuals with COVID-19. […] It may be advisable to increase the dose of statins in FH patients with COVID-19 following the acute phase of infection. […] Patients with FH can be especially vulnerable for unstable plaques that could rupture in the setting of active infections such as COVID-19.
  • #1 Managing the Interplay of Familial Hypercholesterolemia and COVID-19 – The Cardiology Advisor
    https://www.thecardiologyadvisor.com/features/managing-the-interplay-of-familial-hypercholesterolemia-and-covid-19/
    Prolonged exposure to elevated LDL leads to endothelial dysfunction, which can be exacerbated by COVID-19 and increase the risk of an acute atherosclerotic cardiovascular disease (ASCVD) event. […] The FH Foundation has recently submitted an article on this subject that is under review. […] Lipid-lowering therapy for FH patients must be continued to ensure optimal LDL-C levels. […] Statins have actually shown some benefit against COVID-19 and also have pleotropic anti-inflammatory effects. […] If the LDL-C is not at goal, now would be a great time to initiate or optimize therapy. […] Knowing that a patient has FH is important during a COVID-19 infection, as he or she is at much higher risk for complications. […] Healthcare providers caring for persons with known FH should counsel their patients on the importance of strict adherence to Centers for Disease Control and Prevention (CDC) guidelines for prevention.
  • #1 Familial hypercholesterolaemia – Genomics Education Programme
    https://www.genomicseducation.hee.nhs.uk/documents/familial-hypercholesterolaemia/
    High risk children those aged 10 or younger, and with one affected parent should be offered a DNA test as soon as possible through a paediatric lipids service or a clinical genetics department. […] Cascade testing should be offered to identify affected first- and second- degree biological relatives of people with a genetic diagnosis of FH, to provide the option of early lipid control and decrease the risk of severe young onset cardiovascular disease.
  • #1 Screening for Familial Hypercholesterolemia: a Model for Preventive Medicine – Revista Española de Cardiología (English Edition)
    https://www.revespcardiol.org/en-screening-for-familial-hypercholesterolemia-model-articulo-S1885585714001212
    The most common genetic cause of premature coronary artery disease (CAD) is familial hypercholesterolemia (FH), an autosomal dominant condition in which half the offspring of an affected individual will also be affected from birth. […] Therefore, FH is a public health problem, and diagnosis and treatment are mandatory. […] Early diagnosis allows preventive measures to be taken. If patients with FH and no history of CAD are treated with statins, the risk of CAD is reduced by 79%, to a level similar to that of the general population. […] From the point of view of public health, the best strategy for covering this gap in diagnosis and treatment of FH is the implementation of a family-based cascade screening program. […] The detection of FH meets the criteria for systematic screening for a disease. The most cost-effective way of identifying new cases of FH is cascade screening of the family members of an IC (proband), using a strategy based on cholesterol concentrations and/or genotyping.
  • #1 Screening for Familial Hypercholesterolemia: a Model for Preventive Medicine – Revista Española de Cardiología (English Edition)
    https://www.revespcardiol.org/en-screening-for-familial-hypercholesterolemia-model-articulo-S1885585714001212
    The best strategy for diagnosing family members is therefore a combination of LDL-C levels and genetic analysis when a known mutation is present, provided sufficient resources are available. […] Ideally, FH should be detected before cardiovascular disease develops, but this is rarely the case in everyday clinical practice. Diagnosis in children is therefore important and, when one of the parents has already been diagnosed, screening should start at the age of 2 years and preferably be complete before the child is 8 years old. […] For a cascade screening program to be successful, the primary care system must be involved, engaging the family physician in the identification of the IC and in subsequent diagnoses when screening family members. […] Cost-effectiveness studies provide clear support for systematic screening for FH.
  • #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. […] 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 Guidance on the management of familial hypercholesterolaemia in Hong Kong: an expert panel consensus viewpoint | HKMJ
    https://www.hkmj.org/abstracts/v24n4/408.htm
    Cascade screening for relatives of patients with FH is recommended in both the private and public sectors. […] Although this may be challenging in the private sector due to financial constraints, cascade screening is the most cost-effective approach for the identification of new patients with FH; moreover, it is recommended by international and national bodies, such as the European Atherosclerosis Society and the American Heart Association. […] The panel suggested that, for primary prevention of CHD, the target LDL-C level for Hong Kong Chinese patients with FH should be 2.5 mmol/L. […] The panel agreed that patients with established atherosclerotic CVD or other cardiovascular risk factors, such as diabetes, elevated Lp(a) level 50 mg/dL, pretreatment LDL-C level 6.72 mmol/L, family history of premature CHD, or advanced age, should be considered as very high risk.
  • #1 Screening for Familial Hypercholesterolemia: a Model for Preventive Medicine – Revista Española de Cardiología (English Edition)
    https://www.revespcardiol.org/en-screening-for-familial-hypercholesterolemia-model-articulo-S1885585714001212
    This national program of family screening has a data registry and a central repository of biological samples. […] Given the recent history of cascade screening in Spain, and to avoid regional inequalities in the care of family members with FH, we believe that the moment has come to put into practice a national plan for FH screening. Diagnosis and treatment of families with FH is a unique opportunity in the field of preventive medicine.
  • #1 Familial Hypercholesterolemia: Our Call to Action – Professional Heart Daily | American Heart Association
    https://professional.heart.org/en/science-news/the-agenda-for-familial-hypercholesterolemia/Commentary
    Familial hypercholesterolemia (FH), an autosomal dominant condition involving markedly elevated low-density lipoprotein cholesterol (LDL-C), was first described more than a century ago, but is still a highly under-recognized and underappreciated condition, present in an estimated 1 in 200 to 500 individuals (or higher in certain founder populations) in the heterozygous form (genetic defect inherited from one parent), and 1 in 1 million in the homozygous form (genetic defects from both parents), making FH one of the most common of serious genetic disorders. […] Noteworthy is that the Centers for Disease Control and Prevention recognizes FH as a Tier 1 genetic disorder, indicating that sufficient evidence for health benefit exists to implement case finding via family history-based screening, cascade screening, or other strategies.
  • #1 Familial hypercholesterolaemia: a common cause of premature coronary disease in the community and a paradigm for the practice of precision medicine | Tasman Medical Journal
    https://tasmanmedicaljournal.com/2019/10/familial-hypercholesterolaemia-a-common-cause-of-premature-coronary-disease-in-the-community-and-a-paradigm-for-the-practice-of-precision-medicine/
    The diagnosis of FH relies primarily on demonstrating a raised untreated plasma LDL-cholesterol concentration. […] Genetic testing provides an accurate diagnosis of heFH and hoFH, and is therefore important for risk stratification, cost-effective deployment of lipid-lowering therapies and cascade family testing. […] Treatment of elevated LDL-cholesterol in FH involves dietary and lifestyle changes and pharmacotherapy. […] Statins are the first-line pharmacotherapy and is now further supported by new evidence from many cohort and surrogate-endpoint studies as well as clinical trials. […] Guideline recommended treatment targets for FH are a 50% initial reduction in plasma LDL-cholesterol concentration, followed by an LDL target of 2.6 mmol/l or 1.8 mmol/l. […] There is no good evidence for the age of initiation of statins or for LDL-cholesterol treatment targets in children, although Mendelian randomisation studies suggest that cholesterol should be lowered as early as possible.
  • #1 Genetic Testing for Familial Hypercholesterolemia
    https://www.southcarolinablues.com/web/public/brands/medicalpolicy/external-policies/genetic-testing-for-familial-hypercholesterolemia/
    The primary pathogenic mechanism of FH is the impairment of LDL-receptor mediated catabolism of LDL. […] Early diagnosis and treatment with lipid-lowering drugs can reduce the risk of coronary heart disease (CHD) to rates comparable to the general population. […] Genetic testing for patients with suspected FH should, at a minimum, include analysis of LDLR, APOB, and PCSK9. […] Cascade genetic testing for the specific variant(s) identified in the FH proband should be offered to all first-degree relatives. […] Genetic testing is reasonable when heterozygous familial hypercholesterolemia is suspected but not definitively diagnosed based on clinical criteria alone. […] Cascade screening involves testing lipid levels in all first-degree relatives of diagnosed FH patients. […] Cascade screening is the most cost-effective means of finding previously undiagnosed FH patients and is also cost-effective in terms of cost per year of life saved.
  • #1 Genetic Testing for Familial Hypercholesterolemia
    https://www.southcarolinablues.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. […] For all other situations not described above, genetic testing to confirm a diagnosis of FH is considered NOT MEDICALLY NECESSARY.
  • #1 Familial Hypercholesterolaemia Diagnosis and Management | ECR Journal
    https://www.ecrjournal.com/articles/familial-hypercholesterolaemia-diagnosis-and-management?language_content_entity=en
    Familial hypercholesterolaemia is the most common monogenic disorder associated with premature coronary artery disease. […] Early identification and adequate treatment can improve prognosis, reducing negative clinical cardiovascular outcomes. […] Patients with familial hypercholesterolaemia are considered at high cardiovascular risk and the treatment target is LDL cholesterol 2.6 mmol/l or at least a 50 % reduction in LDL cholesterol. […] Different strategies have been proposed to improve early detection of the disorder and ensure adequate treatment to prevent the development of ASCVD. […] Early identification of FH is important for the prevention of coronary artery disease. […] Identification of ICs and cascade screening using lipids and genetic testing in their relatives is cost-effective. […] Patients require high-intensity statin therapy and ezetimibe. […] For those not achieving target LDL-C, the new iPCSK9 are a good option for reducing LDL-C and cardiovascular risk. […] Early diagnosis and treatment will improve clinical cardiovascular outcomes.
  • #1 Familial hypercholesterolemia in adults: Treatment – UpToDate
    https://www.uptodate.com/contents/familial-hypercholesterolemia-in-adults-treatment
    Familial hypercholesterolemia (FH) is the most common autosomal dominant genetic disease. The clinical syndrome (phenotype) is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) and a propensity to early-onset atherosclerotic cardiovascular disease (ASCVD). […] All patients with FH should receive the general preventive measures described below. […] Lifestyle changes – All patients with elevated LDL-C should be counseled on lifestyle changes that may decrease LDL-C levels. This counseling should include dietary modification (eg, reduced intake of saturated fat), physical activity, and weight loss in obese individuals. Most patients benefit from referral to a dietitian for detailed nutritional counseling.
  • #1 What’s the difference between FH and standard high cholesterol? – BHF
    https://www.bhf.org.uk/informationsupport/heart-matters-magazine/medical/familial-hypercholesterolaemia
    Cholesterol plays a vital part in how our body works, but if levels get too high, it increases our risk of heart disease. […] About one in 250 people has familial hypercholesterolaemia (FH), an inherited condition that means their cholesterol levels are higher than normal from birth. […] The good news is that a 2008 study part-funded by the BHF found that people with FH who are diagnosed and treated before they develop heart disease generally live as long as people who dont have FH. So its really important to get diagnosed as early as possible. […] If you have FH, a healthy lifestyle alone will not be enough to reduce your cholesterol, so you will also need to take medication. […] It is important to identify FH as early in life as possible, so that you can get treatment and support.
  • #1 Familial hypercholesterolaemia: a common cause of premature coronary disease in the community and a paradigm for the practice of precision medicine | Tasman Medical Journal
    https://tasmanmedicaljournal.com/2019/10/familial-hypercholesterolaemia-a-common-cause-of-premature-coronary-disease-in-the-community-and-a-paradigm-for-the-practice-of-precision-medicine/
    Lipoprotein apheresis (LA) is recommended for hoFH and severe heFH patients who remain above LDL-cholesterol treatment targets despite being on maximal drug therapy. […] The drive to improve the detection and management of FH is underscored by several international and regional initiatives. […] Patients with FH have a very high risk of premature CAD and need to be targeted for early intervention.
  • #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
    Familial hypercholesterolemia (FH) is an inherited condition that causes high blood levels of low-density lipoprotein (LDL) cholesterol. […] Finding and treating FH early, with medicines such as statins, is important to prevent coronary artery disease. […] Finding and treating FH early REDUCES coronary artery disease risk by about 80%. […] Medicines, such as statins, are needed to help control cholesterol levels. […] If you have FH, finding the disorder early and treating it can reduce your risk of coronary artery disease by about 80%. […] 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. […] If you are concerned that you could have familial hypercholesterolemia or hereditary heart disease, the first step is to collect your family health history of heart disease and share this information with your healthcare provider.
  • #2 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. […] You cant prevent an inherited disease like familial hypercholesterolemia. But you can help your family get treatment early by letting them know about your diagnosis. […] People with FH are at a higher risk of heart disease at a younger age than those without FH. If you have familial hypercholesterolemia, your biological siblings, parents and children should get a test. You can start screening a child at age 2 if they have a high risk of FH. […] 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 Cardiovascular risk stratification in familial hypercholesterolaemia | Heart
    https://heart.bmj.com/content/102/13/1003
    Familial hypercholesterolaemia (FH) is a common autosomal-dominant disorder in most European countries. Patients with FH are characterised by a raised level of low-density lipoprotein cholesterol and a high risk of premature coronary heart disease (CHD). Currently there is no consensus regarding the clinical utility to predict future coronary events or testing for the presence of subclinical atherosclerotic disease in asymptomatic patients with FH. Family screening of patients with FH as recommended by the UK National Institute of Health and Care Excellence guideline would result in finding many young individuals with a diagnosis of FH who are clinically asymptomatic. […] The 2008 National Institute of Health and Care Excellence (NICE) guideline on FH recommends cascade screening for first-degree relatives of all patients with a clinical diagnosis of FH. This would result in finding many individuals with a diagnosis of FH who are clinically asymptomatic. Risk stratification of subclinical coronary atherosclerosis in asymptomatic patients with FH who are at higher risk of advanced CHD is important, as these people might be eligible for intensive treatment at a younger age.
  • #2 Familial Hypercholesterolemia: Screening, Diagnosis, and Treatment | AAFP
    https://www.aafp.org/pubs/afp/issues/2024/0900/editorial-hypercholesterolemia.html
    The American Heart Association endorses screening patients between 9 and 11 years of age to permit early identification of familial hypercholesterolemia and secondary cascade screening of other family members when a patient with familial hypercholesterolemia is identified. […] 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. […] 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.
  • #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
    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. […] The US Centers for Disease Control and Prevention has designated FH as a tier 1 genomic application. This indicates that FH imposes a significant public health burden. Several novel screening strategies using modern technology are being investigated to help improve identification. Moreover, new lipid lowering therapies are on the horizon. Most importantly, all clinicians should be aware of the clinical red flags that raise suspicion for FH in order to prevent its CV complications.
  • #2 Dietary Approach in Familial Hypercholesterolemia
    https://www.mdpi.com/2035-8148/15/1/1
    The dietary approach is an important and supportive part of FH management. […] The Mediterranean diet is a dietary model advised in cardiovascular prevention, including patients with FH. […] Regarding detailed recommendations, the current state of knowledge indicates dietary fat and SFA intake limitation as an advised strategy. […] Supplementation of sterols and fiber can also be helpful. […] More studies focused on detailed dietary strategies and their genetic background response in FH are needed.
  • #2 Current Treatment of Familial Hypercholesterolaemia
    https://pmc.ncbi.nlm.nih.gov/articles/PMC6159444/
    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. […] Lifestyle modification is the foundation in the treatment of FH. […] While lifestyle modification is the first step in the treatment of FH patients, this strategy alone will be insufficient as the sole treatment to achieve LDL-C goal. […] Patients with LDL 190 mg/dl are identified within the new ACC/AHA 2013 Blood Cholesterol Guidelines as requiring pharmacologic intervention. […] 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.
  • #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. […] Lifestyle modification is the foundation in the treatment of FH. […] Lifestyle modification will at most reduce LDL-C concentration by 10-15 % and most patients will require further pharmacological therapy. […] Early detection and treatment of FH is recommended to reduce risk of cardiovascular events.
  • #2 Guidance on the management of familial hypercholesterolaemia in Hong Kong: an expert panel consensus viewpoint | HKMJ
    https://www.hkmj.org/abstracts/v24n4/408.htm
    It should be emphasised that lifestyle interventions should be the first-line treatment for paediatric patients with FH; they should not be disregarded, even if pharmacotherapy is used. […] Increased awareness, early identification, and optimal treatment are essential to reduce the risk of premature CHD, thereby restoring decades of healthy, normal life in patients with FH.
  • #2 Managing the Interplay of Familial Hypercholesterolemia and COVID-19 – The Cardiology Advisor
    https://www.thecardiologyadvisor.com/features/managing-the-interplay-of-familial-hypercholesterolemia-and-covid-19/
    This should include prescribing a high dose of high-intensity statins (atorvastatin 40 or 80 mg per day or rosuvastatin 20 or 40 mg per day). […] It is important for all persons with FH to have their lipoprotein (a) or LP(a) measured. […] Knowing if a person with FH has an elevated Lp(a) is important in predicting outcome should a person contract COVID-19. […] Continuation of all lipid-lowering therapies or even intensifying therapy is recommended, in addition to treatment with COVID-19 treatments that have been shown to work. […] The article by Vuorio et al. is an excellent summary of the interplay between COVID-19 and FH. […] I agree with their point that LDL-C levels should be aggressively lowered to avoid complications, as well as considering intensifying statin therapy, which has been shown to be beneficial against COVID-19. […] Early and aggressive treatment for individuals with FH can prevent premature cardiovascular disease.
  • #2 Screening for Familial Hypercholesterolemia: a Model for Preventive Medicine – Revista Española de Cardiología (English Edition)
    https://www.revespcardiol.org/en-screening-for-familial-hypercholesterolemia-model-articulo-S1885585714001212
    The best strategy for diagnosing family members is therefore a combination of LDL-C levels and genetic analysis when a known mutation is present, provided sufficient resources are available. […] Ideally, FH should be detected before cardiovascular disease develops, but this is rarely the case in everyday clinical practice. Diagnosis in children is therefore important and, when one of the parents has already been diagnosed, screening should start at the age of 2 years and preferably be complete before the child is 8 years old. […] For a cascade screening program to be successful, the primary care system must be involved, engaging the family physician in the identification of the IC and in subsequent diagnoses when screening family members. […] Cost-effectiveness studies provide clear support for systematic screening for FH.
  • #2 Guidance on the management of familial hypercholesterolaemia in Hong Kong: an expert panel consensus viewpoint | HKMJ
    https://www.hkmj.org/abstracts/v24n4/408.htm
    For very-high-risk patients, the target LDL-C level should be 1.8 mmol/L; for paediatric patients (10 years of age) with FH, the panel recommended that the target LDL-C level should be 3.4 mmol/L. […] All patients with a clinical diagnosis of FH should be counselled on lifestyle modification, particularly healthy eating, regular exercise and physical activity, weight control, and cessation of smoking. […] First-line treatment for hypercholesterolaemia for reducing the risk of CHD involves the use of 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitors or statins, which significantly reduce the risk of CVD and progression of atherosclerosis in FH. […] The European Atherosclerosis Society Consensus Panel recommended early detection (from age 5 years, or earlier if HoFH is suspected) in children; the panel suggested lifestyle modification and statin therapy for the treatment of children with FH, as early as age 8 to 10 years.
  • #2 Detecting Familial hypercholesterolemia in children and adolescents: potential and challenges | Italian Journal of Pediatrics | Full Text
    https://ijponline.biomedcentral.com/articles/10.1186/s13052-022-01257-y
    The improvement of public awareness about FH, especially in the community setting, needs to be addressed. […] Despite increasing knowledge about the prevalence and risks of FH, many health professionals do not make any link between FH and the patient’s clinical condition. […] The start of atherosclerosis prevention early in childhood is likely to result in a greater reduction in CVD morbidity and mortality than that achieved with current efforts aimed at preventing events in older adults. […] Early identification of children with FH is important to prevent atherosclerosis at the earliest stage of development, enables intervention at an early stage, when maximum benefit can still be obtained via lifestyle adaptations and therapy.
  • #2 Screening for Familial Hypercholesterolemia: a Model for Preventive Medicine – Revista Española de Cardiología (English Edition)
    https://www.revespcardiol.org/en-screening-for-familial-hypercholesterolemia-model-articulo-S1885585714001212
    This national program of family screening has a data registry and a central repository of biological samples. […] Given the recent history of cascade screening in Spain, and to avoid regional inequalities in the care of family members with FH, we believe that the moment has come to put into practice a national plan for FH screening. Diagnosis and treatment of families with FH is a unique opportunity in the field of preventive medicine.
  • #2 Familial Hypercholesterolemia: Cardiovascular Risk Stratification and Clinical Management
    https://www.acc.org/Latest-in-Cardiology/Articles/2020/06/01/13/54/Familial-Hypercholesterolemia
    Universal screening at 9-11 years of age for elevated LDL-C is recommended by multiple organizations. LDL-C level greater than 190 mg/dL or LDL-C greater than 160 mg/dL coupled with a family history of premature CAD should prompt further evaluation for FH. […] FH remains a clinical diagnosis but can be confirmed by genetic testing. The FH Foundation recommends genetic testing in patients with definitive or probable FH along with cascade screening of first degree relatives. The presence of a causal genetic mutation carries significant risk that compounds the elevation in LDL-C. […] While therapeutic lifestyle changes are paramount in all individuals, these efforts alone may not decrease LDL-C to an adequate level in those with FH. High-intensity statin therapy should be initiated in all adult patients with goal LDL-C reductions 50% and/or achieved LDL-C 100 mg/dL in those without ASCVD. Stepwise intensification of pharmacotherapy should be initiated in all patients who fail to achieve LDL-C reductions and those with additional risk factors such as smoking, family history of premature ASCVD, and Lp(a) 50mg/dL. Ezetimibe is recommended as the second-line adjunctive therapy and is associated with LDL-C reductions of 20-24% above and beyond what is achieved with statin therapy. If combination therapy with maximally tolerated statin and ezetimibe fails to adequately reduce LDL-C, a PCSK9 inhibitor should be considered.
  • #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 (FH) is an autosomal dominant condition that leads to extreme elevations in low density lipoprotein cholesterol (LDL-C). It can remain undiagnosed until a catastrophic cardiovascular (CV) event. Thus, without early detection, many patients will remain undertreated and have missed opportunities for CV prevention. […] Several tools and screening strategies have been developed to help guide clinicians to earlier diagnosis and treatment. […] Once an individual is identified with FH it is important to also determine who else in the family is at risk. A commonly used screening strategy is known as cascade screening where LDL-C measurement, genetic testing, or both are done in consenting relatives of patients with 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.
  • #3 Hypercholesterolemia: Causes, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/23921-hypercholesterolemia
    You can lower your risk with a healthy lifestyle that includes: […] Exercising. […] Staying at a healthy weight. […] Eating low-fat foods. […] Not using tobacco products.
  • #3
    https://link.springer.com/article/10.1007/s40119-021-00245-3
    A recent population-based analysis provided strong evidence suggesting that COVID-19 poses an even higher risk for myocardial injury in FH patients. […] Preventive lipid management among FH patients suffering from COVID-19 needs to be continued, or even intensified, during the infection and beyond. […] From the preventive point of view, it is important to note that, in addition to the acutely elevated risk of myocardial injury in patients with COVID-19, an elevated risk of ASCVD and its clinical complications may continue after COVID-19. […] It is thus justified to remind clinicians that preventive lipid treatment among FH patients with COVID-19 needs to be continued or even intensified after the acute illness. […] In such FH patients with lifelong pre-existing endothelial dysfunction, combining an efficient cholesterol-lowering regimen with antithrombotic medications is prudent, when attempting to prevent the often-lethal thrombotic complications of the SARS-CoV-2 infection.
  • #3 Familial Hypercholesterolemia: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/121298-overview
    Consider LDL apheresis for the following patients: Those with documented CHD whose LDLc level cannot be lowered below 200 mg/dL by conventional therapy. […] The 2013 EAS consensus statement for treatment of heterozygous FH includes the following recommendations: An LDL target of 3.5 mmol/L (135 mg/dL) for children with FH (age 8-10); An LDL target of 2.5 mmol/L (100 mg/dL) for adults with FH; and An LDL target of 1.8 mmol/L (70 mg/dL) for adults with known CHD or diabetes.
  • #3 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. […] 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.
  • #4 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. […] Early detection and treatment of FH is recommended to reduce risk of cardiovascular events. The goal of treatment is to reduce LDL-C by 50 % from baseline levels. […] Lifestyle modification, lipid-lowering therapy, LDL apheresis and in rare cases, liver transplant are the cornerstones of LDL-C lowering in patients with FH.
  • #5 Familial hypercholesterolemia in adults: Treatment – UpToDate
    https://www.uptodate.com/contents/familial-hypercholesterolemia-in-adults-treatment
    Familial hypercholesterolemia (FH) is the most common autosomal dominant genetic disease. The clinical syndrome (phenotype) is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) and a propensity to early-onset atherosclerotic cardiovascular disease (ASCVD). […] All patients with FH should receive the general preventive measures described below. […] Lifestyle changes – All patients with elevated LDL-C should be counseled on lifestyle changes that may decrease LDL-C levels. This counseling should include dietary modification (eg, reduced intake of saturated fat), physical activity, and weight loss in obese individuals. Most patients benefit from referral to a dietitian for detailed nutritional counseling.
  • #6 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. […] A healthy lifestyle and physical activity are important but will not be enough to lower your cholesterol to a healthy level. […] 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. […] 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. […] 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.
  • #7 Prevention of cardiovascular disease in patients with familial hypercholesterolaemia: The role of PCSK9 inhibitors
    https://pmc.ncbi.nlm.nih.gov/articles/PMC5574519/
    Familial hypercholesterolaemia is an autosomal dominant inherited disorder characterised by elevated low-density lipoprotein cholesterol levels and consequently an increased risk of atherosclerotic cardiovascular disease (ASCVD). […] Given that individuals with familial hypercholesterolaemia and ASCVD are at a particularly high risk of subsequent cardiac events, this is a missed opportunity for preventive therapy. […] Targeted screening of patients with ASCVD is an effective strategy to identify new familial hypercholesterolaemia index cases. […] Increased awareness of familial hypercholesterolaemia is required among healthcare professionals, particularly cardiologists and primary care physicians, in order to start early preventive measures and to reduce the mortality and morbidity associated with familial hypercholesterolaemia and ASCVD.

Zobacz więcej

badanie kliniczne badanie genetyczne dieta śródziemnomorska stratyfikacja ryzyka modyfikacja stylu życia statyna transplantacja wątroby poziom lipidów farmakoterapia homozygotyczna FH tłuszcz nasycony miażdżyca hipercholesterolemia rodzinna afereza lipoprotein dysfunkcja śródbłonka wywiad rodzinny lipoproteina(a) lomitapid inhibitor PCSK9 mipomersen profilaktyka pierwotna choroba sercowo-naczyniowa cholesterol LDL badanie kaskadowe heterozygotyczna FH ezetimib profilaktyka wtórna