Materiały źródłowe

• #1 What is Familial Hypercholesterolemia? | American Stroke Association

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

  Familial hypercholesterolemia (FH) is an inherited defect in how the body recycles LDL, or “bad” cholesterol. […] People with FH are born with high LDL cholesterol. Everyone’s cholesterol levels tend to rise with age. But those with FH have LDL levels that start high and get higher over time. […] High LDL contributes to plaque buildup, leading to a much higher-than-normal risk of coronary heart disease. If left untreated, people with FH have 20 times the risk of developing heart disease. […] Some people with FH have physical symptoms. Many don’t. […] One symptom is cholesterol deposits in the Achilles tendons or the tendons of the hands or elbows. People with HoFH also can develop cholesterol deposits in other areas, such as the skin surrounding the eyes or on the outer edge of the cornea.

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

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

  Familial hypercholesterolemia affects the way the body processes cholesterol. As a result, people with familial hypercholesterolemia have a higher risk of heart disease and a greater risk of early heart attack. […] The genetic changes that cause familial hypercholesterolemia are inherited. The condition is present from birth, but symptoms may not appear until adulthood. […] People who inherit the condition from both parents usually develop symptoms in childhood. If this rare and more severe variety is left untreated, death often occurs before age 20. […] Adults and children who have familial hypercholesterolemia have very high levels of low-density lipoprotein (LDL) cholesterol in their blood. low-density lipoprotein (LDL) cholesterol is known as „bad” cholesterol because it can build up in the walls of the arteries, making them hard and narrow.

• #3 Familial hypercholesterolemia > Fact Sheets > Yale Medicine

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

  Familial hypercholesterolemia (FH) is a genetic disorder that interferes with the body’s ability to process LDL cholesterol. […] If left untreated, FH can be a life-threatening disorder. […] A buildup can also block blood vessels, leading to a heart attack or stroke at a very young age. […] While everyone is at risk of plaque buildup as they grow older, a person with FH will have unusually high levels of LDL cholesterol from birth and so the damaging accumulation begins much earlier in life. […] If left untreated, the genetic condition can significantly increase a person’s risk of developing atherosclerosis (a buildup of plaque inside the arteries, which can lead to cardiovascular disease). […] Regular cholesterol screening is the best way to detect the most prominent signs or symptoms of this condition, which is high LDL cholesterol levels.

• #4 Familial Hypercholesterolemia (FH) | Singapore Heart Foundation

  https://www.myheart.org.sg/health/risk-factors/familial-hypercholesterolemia/

  Unfortunately, most (>90%) individuals with FH are unaware of their condition and are therefore not on treatment. […] At any age, discovering that one has FH could be life changing. […] If you have a family history of high cholesterol and heart disease but have never been tested, get your cholesterol checked today, especially if there is also a family history of heart disease occurring before age 55 in men or age 60 in women in your family.

• #5 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. […] People with FH are more likely to have coronary artery disease or a heart attack. […] Finding and treating FH early, with medicines such as statins, is important to prevent coronary artery disease. […] Left untreated, heart attacks happen in 30% of women by age 60 and 50% of men by age 50. […] If FH is left untreated, heart attacks happen in 30% of women with FH by age 60 and 50% of men with FH by age 50. […] If you have FH, finding the disorder early and treating it can reduce your risk of coronary artery disease by about 80%. […] Signs of FH include: LDL-cholesterol levels over 190 mg/dL in adults, Family health history of early heart attacks or heart disease, Swollen or painful Achilles tendons, and Bumps around the knuckles, elbows, or knees.

• #6 Familial Hypercholesterolemia: Symptoms & Treatment

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

  Its common for people who have FH to have atherosclerosis, or plaque (atheroma) collecting in their arteries. This can lead to: Xanthomas (skin bumps from cholesterol buildup on your Achilles tendon, elbow, knee or hand tendons), Xanthelasmas (yellow cholesterol around your eyelids), Corneal arcus (white, grey or blue ring around your eyes cornea), Aortic aneurysm (stretched out wall of your largest artery), Peripheral artery disease (plaque buildup in arteries in your legs and arms), Coronary artery disease (heart attack), Aortic stenosis (narrow aortic valve), Cerebrovascular disease (stroke), Sudden death. Early treatment greatly reduces your risk of these complications. […] People with familial hypercholesterolemia have a much higher risk of atherosclerosis, which can cause heart attacks and strokes. Without treatment, people who have FH have 20 times the risk of coronary artery disease compared to someone without the disease.

• #7 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. […] There are two forms of FH: Heterozygous FH (HeFH) and Homozygous FH (HoFH). […] May have physical symptoms, such as cholesterol deposits in the eye, tendons, knees, elbows, and/or between fingers and toes. […] Likely physical symptoms, such as cholesterol deposits in the eye, tendons, knees, elbows and/or between fingers and toes. These deposits are not always present. […] While not curable, treating FH can help you lead a full life and lower your risk of: Heart attack, Stroke, Circulation problems such as peripheral arterial disease (PAD). […] Some children with FH will require medication at a young age.

• #8 Familial Hypercholesterolemia | Test Summary | Quest Diagnostics Familial HypercholesterolemiaFamilial Hypercholesterolemia

  https://testdirectory.questdiagnostics.com/test/test-guides/TS_FH/familial-hypercholesterolemia

  Familial hypercholesterolemia is a common inherited disorder characterized by very high levels of circulating low-density lipoprotein cholesterol (LDL-C). FH is caused by variants in genes involved in LDL-C cycling in the liver. Most cases of FH are inherited in an autosomal dominant pattern, and globally, approximately 1 in 220 people have heterozygous FH (ie, a single pathogenic variant in a gene associated with elevated LDL-C). Homozygous forms of FH are rarer (roughly 1 in 200,000 to 300,000 people); these patients have 2 pathogenic variants and more severe signs and symptoms. […] Due to lifelong exposure to high LDL-C levels, adults who have known FH gene variants and elevated LDL-C have a higher risk for incident atherosclerotic cardiovascular disease (ASCVD) and death. […] Early diagnosis of FH is crucial for disease management and reducing risk of premature ASCVD (ie, in men ≤55 years, women <65 years). [...] Homozygous positive (or compound heterozygous) individuals have more severe symptoms and are at higher risk for premature ASCVD than heterozygous FH-positive individuals.

• #9

  https://www.healthychildren.org/English/health-issues/conditions/heart/Pages/inherited-high-cholesterol-in-children-what-families-need-to-know.aspx

  Many parents think of cholesterol as a health concern that only affects adults. But did you know that around 1 in 250 children may have high cholesterol levels that aren’t related to diet, exercise or lifestyle? […] These kids have a genetic condition called familial hypercholesterolemia, or FH. Even if they eat healthfully and live an active life, they are at risk for early heart disease. […] If blood tests show your child’s LDL cholesterol level is above 160 mg/DL, then FH may be present. Children diagnosed with HoFH often have LDL cholesterol levels that are above 400 mg/DL, or more than 4 times the level considered safe between ages 2 and 19. Extremely high LDL levels of 1,000 mg/dL have been seen in some children with HoFH. […] HoFH, the more severe form of inherited high cholesterol, is very rare. It affects only about 1 in 300,000 people worldwide, but health care professionals are working to widen awareness of the condition. Dangerous buildup of cholesterol caused by HoFH can cause heart attacks in the teen years or younger. In fact, people with untreated HoFH frequently succumb to heart disease before age 30.

• #10 Familial Hypercholesterolemia | What We Do | World Heart Federation

  https://world-heart-federation.org/what-we-do/cholesterol/familial-hypercholesterolemia/

  Familial hypercholesterolemia is largely a silent disease: it causes no symptoms. […] Once diagnosed, treatment is not systematic and sometimes suboptimal, which results in poorly controlled cholesterol levels. […] FH can be diagnosed with a simple blood test and a set of diagnostic criteria. Some untreated patients can also develop a characteristic skin condition called xanthoma, which is caused by a build-up of fat under the surface of the skin. […] Untreated men and women with heterozygous FH will generally experience a cardiovascular event by the age of 30 to 50 and 40 to 60, respectively. In contrast, individuals with homozygous FH will experience a cardiovascular event in childhood or adolescence and die before the age of 30, if left untreated. […] Individuals with FH are unable to properly regulate and remove the excess of bad cholesterol from the blood stream. Over time, cholesterol accumulates, builds up in the walls of the arteries, and leads to premature cardiovascular disease. […] Early diagnosis and lifelong treatment of FH reduces the risk of premature cardiovascular disease and heart attacks.

• #11 Familial Hypercholesterolemia Symptoms | the Family Heart Foundation

  https://familyheart.org/diagnosing-familial-hypercholesterolemia

  Familial Hypercholesterolemia (FH) is usually an invisible disease. By this we mean that often people do not show visible signs of FH. […] Sometimes there are visible signs of FH, especially when the LDL-cholesterol is very high. These include: Bumps or lumps around the knuckles, elbows, and knees, called xanthomas. These are formed when excess cholesterol deposits on tendons or under the skin. They may be noticed by a dermatologist. Thickened and sometimes painful Achilles tendons (tendon xanthomas). Excess cholesterol may deposit in the tendons, which makes them enlarged and may cause pain when wearing shoes. Yellowish areas around the eyes (xanthelasmas) or a white arc near the colored part of the eye (corneal arcus). These may be noticed by an eye doctor. […] Although risk factors like diet and lifestyle should be addressed, people with FH require early, aggressive, and lifelong treatment.

• #12 Familial Hypercholesterolemia: Symptoms & Treatment

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

  Familial hypercholesterolemia (FH) is a genetic disorder that gives you very high levels of low-density lipoprotein (LDL) cholesterol. LDL is the bad cholesterol that can lead to cholesterol plaque buildup in your arteries. This can eventually cause heart attacks, strokes or peripheral artery disease. […] 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 dont have FH. […] You may not notice symptoms of familial hypercholesterolemia until you have coronary artery disease. But people with FH need treatment much earlier than that because their LDL level starts out high even as newborns. […] This condition leads to LDL cholesterol buildup, which can cause familial hypercholesterolemia symptoms like: Chest pain, Heart attack at a younger age, Stroke, Calf cramps, Yellow plaques or xanthomas in the skin of your elbows, fingers, eyelids or Achilles tendon, Tendonitis.

• #13 Heterozygous Familial Hypercholesterolemia: Causes, Symptoms, Treatment

  https://www.webmd.com/cholesterol-management/heterozygous-familial-hypercholesterolemia

  High cholesterol in your blood can also cause other symptoms. […] These are bumps under your skin that form when extra cholesterol in your blood clumps together. They’re usually yellow or orange. […] You’re most likely to see them in your tendons, especially in the Achilles tendon in the back of your heel and in the joints of your hands. […] Sometimes, these growths can also form on your hands, elbows, knees, feet, and buttocks. […] When xanthomas form in your Achilles tendon, they can cause Achilles tendinitis: pain, stiffness, and swelling in the back of the heel. […] It’s a condition you get when cholesterol forms deposits around the outside of your cornea, the clear cover over the front of your eye. […] It looks like a white or gray ring around the iris, the colored part of your eye. It won’t affect your vision.

• #14 Familial hypercholesterolemia > Fact Sheets > Yale Medicine

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

  Other common signs of this condition include the following: Family history of high total and LDL cholesterol levels and/or early heart attack, High LDL cholesterol levels that do not respond well to medications, Chest pain (angina), Cholesterol deposits in the eyelids that usually don’t cause any problems (called xanthelasmas), Cholesterol buildup in the skin or tendons that can be painful, depending where on the body they appear (called xanthomas), Cholesterol around the cornea of the eye, which doesn’t interfere with vision (called arcus lipoidicus).

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

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

  This excess cholesterol is sometimes deposited in certain portions of the skin, some tendons and around the iris of the eyes: […] High cholesterol levels can cause corneal arcus, a white or gray ring around the iris of the eye. This happens most commonly in older people, but it can occur in younger people who have familial hypercholesterolemia. […] People who have familial hypercholesterolemia have a higher risk of heart disease and death at a younger age. Heart attacks may occur before age 50 in men and age 60 in women. The rarer and more severe variety of the condition, if undiagnosed or untreated, can cause death before age 20.

• #16 Familial hypercholesterolaemia: A guide for general practice

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

  FH should always be considered in adults with a total cholesterol level of 7.5 mmol/L or a low-density lipoprotein cholesterol (LDL-C) level of 5.0 mmol/L, especially if there is a personal or family history of premature coronary heart disease (CHD). […] Tendon xanthomas are white or yellow lumps of cholesterol deposits found around knuckles or Achilles tendons. They are rarely seen in general practice but are pathognomonic for FH. […] Corneal arcus is a circular deposit of lipid material at the edge of the cornea. In young people aged 45 years, it is suggestive of FH. […] Patients with a DLCNS 6 should be advised they have a phenotypic diagnosis of FH. It is recommended that they are provided with information about how the condition is inherited from parents to children within families, the treatment options available and future management options.

• #17 Familial Hypercholesterolemia – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK395572/

  Familial hypercholesterolemia (FH) is a prevalent, autosomal co-dominant disorder of lipid metabolism that results in elevated low-density lipoprotein cholesterol (LDL-C) levels and premature atherosclerosis. Screening for and identifying heterozygous FH in childhood is critical, given its high prevalence and asymptomatic presentation. […] Once FH is diagnosed, prompt treatment with lifestyle modification should be initiated. When lifestyle interventions are not sufficient, pharmacotherapy using statins has been shown to be effective at lowering LDL-C, generally safe in short and medium-term studies, and may be beneficial at reducing ASCVD events. […] Due to the excessively high plasma LDL-C levels in homozygous FH, cholesterol deposits are common in the tendons (xanthomas) and eyelids (xanthelasmas), and generally appear by one year of age.

• #18 Hypercholesterolemia – Wikipedia

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

  Xanthelasma palpebrarum, yellowish patches consisting of cholesterol deposits above the eyelids. These are more common in people with familial hypercholesterolemia. […] Although hypercholesterolemia itself is asymptomatic, longstanding elevation of serum cholesterol can lead to atherosclerosis (build-up of fatty plaques in the arteries, so-called 'hardening of the arteries’). Over decades, elevated serum cholesterol contributes to the formation of atheromatous plaques in the arteries. This can lead to progressive narrowing of the involved arteries. Alternatively, smaller plaques may rupture and cause a clot to form and obstruct blood flow. A sudden blockage of a coronary artery may result in a heart attack. A blockage of an artery supplying the brain can cause a stroke. If the development of the stenosis or occlusion is gradual, the blood supply to the tissues and organs slowly diminishes until organ function becomes impaired. At this point tissue ischemia (restriction in blood supply) may manifest as specific symptoms. For example, temporary ischemia of the brain (commonly referred to as a transient ischemic attack) may manifest as temporary loss of vision, dizziness and impairment of balance, difficulty speaking, weakness or numbness or tingling, usually on one side of the body. Insufficient blood supply to the heart may cause chest pain, and ischemia of the eye may manifest as transient visual loss in one eye. Insufficient blood supply to the legs may manifest as calf pain when walking, while in the intestines it may present as abdominal pain after eating a meal.

• #19 Familial hypercholesterolemia Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/familial-hypercholesterolemia

  Familial hypercholesterolemia is a disorder that is passed down through families. It causes LDL (bad) cholesterol level to be very high. The condition begins at birth and can cause heart attacks at an early age. […] In the early years there may be no symptoms. Symptoms that may occur include: Fatty skin deposits called xanthomas over parts of the hands, elbows, knees, ankles and around the cornea of the eye, Cholesterol deposits in the eyelids (xanthelasmas), Chest pain (angina) or other signs of coronary artery disease may be present at a young age, Cramping of one or both calves when walking, Sores on the toes that do not heal, Sudden stroke-like symptoms such as trouble speaking, drooping on one side of the face, weakness of an arm or leg, and loss of balance. […] Men and women with familial hypercholesterolemia typically are at increased risk of early heart attacks. The risk of death varies among people with familial hypercholesterolemia. If you inherit two copies of the variant gene, you have a poorer outcome. That type of familial hypercholesterolemia does not respond well to treatment and may cause an early heart attack. […] Complications may include: Heart attack at an early age, Heart disease, Stroke, Peripheral vascular disease.

• #20 Signs and Symptoms

  http://www.cardiosmart.org/topics/familial-hypercholesterolemia/signs-and-symptoms

  The main red flags are having: Very high levels of LDL-cholesterol (over 190 mg/dL) that dont improve much with exercise, healthy eating or certain medications […] A family history of very high cholesterol or family members who developed heart disease, had a heart attack or died at young ages. For some people with FH, a heart attack, stroke or dying suddenly and at a young age may be the first sign. Thats because high cholesterol itself typically doesnt cause signs or symptoms. Over time, as more cholesterol builds in the blood vessels, it can narrow or block arteries limiting blood flow. Other signs of FH may include: Evidence of cholesterol buildup in the hearts arteries, such as seen in a coronary artery calcium (CAC) scan or other early detection test. Peripheral artery disease, which is when cholesterol builds up in arteries in the legs, which may result in discomfort or pain upon walking that usually subsides when resting. Carotid artery disease, which is a narrowing of the blood vessels in the neck that carry blood from the heart to the brain. Nodules or raised bumps on your skin or tendons (called xanthomas) […] Bumps on your upper or lower eyelids (called xanthelasma) […] White, blueish or yellowish cholesterol deposits that form a ring around the cornea of the eye.

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

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

  Familial hypercholesterolemia (FH) is an inherited (passed from parent to child) genetic disorder that causes high levels of low-density lipoprotein (LDL, or bad) cholesterol. People with FH have a higher risk of heart disease and heart attacks, but the condition can be successfully treated. It is not a rare condition it affects as many as one in every 250 people but most dont know they have it. […] In the early stages, people with FH might not experience any symptoms. When signs and symptoms do appear, they can include: […] Chest pain (angina) […] Cholesterol deposits in the eyelids, called xanthelasmas […] Cholesterol deposits, called xanthomas, on the skin, especially on the hands, elbows, knees, and ankles (Achilles tendon) […] Cramps in the calves while walking […] High levels of LDL cholesterol, seen in a blood test […] Nonhealing sores on the toes […] Stroke-like symptoms that appear suddenly, such as difficulty speaking, one side of the face droops, and weakness on one side of the body.

• #22 Familial Hypercholesterolemia – Endotext – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK395572/

  In addition to increased serum cholesterol and risk for premature coronary artery disease, patients with heterozygous FH may have tendon xanthomas and corneal arcus that appear after the age of 20 years. […] Homozygotes have early-onset atherosclerosis, including myocardial infarction, in the first decade of life (reported as early as age two years), and are at increased risk for CAD-related mortality in the first and second decades. Additionally, patients with homozygous FH can develop cholesterol and calcium deposits that can lead to aortic stenosis and occasionally to mitral regurgitation. […] Heterozygotes are also at increased risk for early-onset CAD between the ages of 30-60 years. Children with heterozygous FH have thicker carotid intima-media thickness (cIMT), an anatomic measure of arterial thickness associated with atherosclerosis, compared to unaffected siblings and healthy controls. One study showed those treated with statin medications (HMG-CoA reductase inhibitors) at younger ages had less carotid atherosclerosis compared to the placebo group. Results from long-term studies of statins in children with FH are just emerging, and indicate that statin treatment during childhood may slow progression of cIMT and reduce the risk of CVD in adulthood. […] Overall, studies are needed to determine the optimal timing and intensity of statin therapy, and to better understand long-term safety and ASCVD outcomes in adulthood for lipid-lowering pharmacotherapy initiated in pediatric patients with heterozygous FH.

• #23 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

  One of the main signs of FH is LDL cholesterol levels over 190 mg/dL in adults (and over 160 mg/dL in children). […] Most people with FH have a family health history of early coronary artery disease or heart attacks. […] People with homozygous FH have extremely high levels of cholesterol and can have heart attacks in childhood.

• #24 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. […] During the physical exam, doctors usually check for cholesterol deposits that may occur in the skin around the hands, knees, elbows and eyes. Tendons in the heel and hand may be thickened, and a gray or white ring may develop around the iris of the eye. […] Adults who have familial hypercholesterolemia usually have low-density lipoprotein (LDL) cholesterol levels over 190 mg/dL (4.9 mmol/L). Children who have the disorder often have LDL cholesterol levels over 160 mg/dL (4.1 mmol/L). In severe cases, LDL cholesterol levels can be over 500 mg/dL (13 mmol/L). […] LDL cholesterol is also known as bad cholesterol because it can build up in the walls of the arteries, making them hard and narrow. This can increase the risk of heart attacks.

• #25 What Is Familial Hypercholesterolemia? Symptoms, Causes, Diagnosis, Treatment, and Prevention

  https://www.everydayhealth.com/high-cholesterol/familial-hypercholesterolemia/

  For many people, the first hint that they may have the condition is when their LDL cholesterol levels are high over 160 milligrams per deciliter (mg/dL) in children or over 190 mg/dL in adults, according to the U.S. Centers for Disease Control and Prevention (CDC). […] Most people with familial hypercholesterolemia also have a family history of heart disease or heart attacks early in life. […] Some, but not all, people with familial hypercholesterolemia also have some telltale physical signs of the condition that develop as a result of extra cholesterol accumulating in different parts of the body. […] These physical signs can include: Bumps or lumps around your knees, knuckles, or elbows; Swollen or painful Achilles tendon; Yellowish areas around your eyes; A whitish gray color in the shape of a half-moon on the outside of your cornea.

• #26 Familial Hypercholesterolemia (FH) – Kidshealth | Akron Children’s

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

  Familial hypercholesterolemia is a condition that causes very high levels of LDL (bad) cholesterol. Its genetic, which means that babies can be born with it if one of their parents has it. […] While people with the condition have a higher risk for developing heart disease or having a heart attack, early diagnosis and treatment lowers their risk. […] Normally, the liver clears LDL cholesterol from the blood. But in kids with familial hypercholesterolemia, the liver has trouble clearing it. This causes high levels of LDL in the blood that dont go away without treatment. […] The gene for familial hypercholesterolemia passes from parent to child. But the condition often goes undiagnosed because symptoms dont always show up. […] Kids with this condition have a high level of LDL cholesterol in the blood. This is typically: at or over 160 mg/dL if there is a family history of premature heart disease; at or over 190mg/dL with no family history of premature heart disease.

• #27 SAAOL E-Magzine

  https://saaol.com/emagzine/2024/25/Understanding-Familial-Hypercholesterolemia:-Causes,-Symptoms–Treatment

  In severe cases, LDL cholesterol levels can reach above 190 milligrams per deciliter (mg/dL) of blood. If left untreated, people with HeFH may develop heart disease as early as 30 years old. […] LDL cholesterol levels can reach above 400 mg/dL of blood. If not detected and treated early, people with HoFH may develop heart disease in the first 10 years of life, sometimes as early as 2 or 3 years old.

• #28 Familial Hypercholesterolemia | Cedars-Sinai

  https://www.cedars-sinai.org/health-library/diseases-and-conditions/f/familial-hypercholesterolemia.html

  Familial hypercholesterolemia is a progressive disease and symptoms may not be present in the beginning. As the condition progresses, patients may notice the following symptoms: Chest pain (angina) […] Fatty deposits around the body (xanthomas) […] Cholesterol deposits on the eyelid (xanthelasmas) […] Sores on the toes that do not heal. Other symptoms are similar to those of a sudden stroke and may include: Difficulty speaking […] Weakness in one arm or leg […] Facial drooping on one side […] Loss of balance.

• #29 Familial Hypercholesterolemia: Symptoms & Causes | Ada

  https://ada.com/conditions/familial-hypercholesterolemia/

  In many cases, especially in younger people, there will be no obvious symptoms of familial hypercholesterolemia. However, if signs and symptoms do present themselves, they may include: […] The most significant consequence of familial hypercholesterolemia, however, is heart disease. In cases of heterozygous familial hypercholesterolemia, signs of atherosclerotic cardiovascular disease, such as angina and heart attack, will appear in middle age if the condition is not treated. In cases of homozygous hypercholesterolemia, symptoms occur in childhood, and many people with this condition die before the age of 20. Heart disease can lead to potentially life-threatening complications such as heart attack. […] The prognosis for familial hypercholesterolemia is dependent on how closely an individual follows the lifestyle and diet recommendations, as well as how well the body responds to the medication. Lifestyle changes and medications can help significantly delay heart disease or heart attack. […] Those with homozygous FH will generally receive a less positive prognosis, as will those who experience early complications, such as heart problems in childhood.

• #30 Familial Hypercholesterolemia – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK556009/

  Heterozygous Familial Hypercholesterolemia: These patients have severe hypercholesterolemia since childhood. Symptoms of ischemic heart disease are common, especially if other cardiovascular risk factors are present. Symptoms of recurrent Achilles tendonitis or arthritic complaints may be present. […] The risk of coronary heart disease before the use of statin in patients with heterozygous familial hypercholesterolemia was very high. However, the risk of death in patients with heterozygous FH after acute coronary syndrome within the first year is almost more than two times higher than matched individuals without familial hypercholesterolemia despite high-intensity statins therapy. […] Patients with homozygous FH have a poor prognosis. They usually die before the third decade of life from cardiovascular events.

• #31 Familial hypercholesterolaemia: A guide for general practice

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

  If FH is left untreated, up to half will have a fatal or non-fatal CVD event by the age of 50 years (men) or 60 years (women). […] FH results in very high levels of LDL-C from birth. If untreated, this cholesterol burden remains throughout life, accelerating premature CVD, especially myocardial infarction and angina, by 34 decades. Early diagnosis and treatment offer the best opportunity to enable affected patients to live a normal lifespan. […] Once a diagnosis of FH is confirmed, lipid-lowering treatment (usually a statin) should be commenced. The aim is to lower LDL-C by 50%. […] All patients with FH should be regularly followed up with at least an annual review. […] Diagnosis of FH in children ideally occurs before the age of 10 years. However, diagnosis may need to occur by three years of age if both parents have FH and the risk of homozygous FH exists.

• #32 Familial Hypercholesterolemia: Symptoms & Treatment

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

  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. For either type, this can lead to a heart attack by age 50 or 60 (depending on your sex). […] Healthcare providers dont 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. 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. Without treatment, people with the rare type of FH may not live to be 30.

• #33 About Familial Hypercholesterolemia

  https://www.genome.gov/Genetic-Disorders/Familial-Hypercholesterolemia

  Men who have familial hypercholesterolemia have heart attacks in their 40’s to 50’s, and 85 percent of men with the disorder have a heart attack by age 60. Women who have familial hypercholesterolemia also have an increased risk for heart attack, but it happens 10 years later than in men (so in their 50’s and 60’s).

• #34 Familial hypercholesterolemia

  https://www.accredo.com/conditions/familial-hypercholesterolemia

  Signs and symptoms of Familial Hypercholesterolemia may include: […] Extremely high LDL-cholesterol (LDL 190 mg/dL in children or 220 mg/dL in those 20 or older) […] Chest pain or angina. […] Note: Some patients have no outward symptoms of high cholesterol.

• #35 Familial Hypercholesterolemia: Symptoms, Causes, and Risks

  https://www.intrigue.health/familial-hypercholesterolemia-symptoms-causes-and-risks/

  Homozygous FH, rarer and more severe, results from inheriting altered DNA from both parents. People with homozygous FH face increased risks of coronary artery disease, often showing up during adolescence. […] Familial hypercholesterolemia is more than a medical diagnosis, its a condition that requires awareness, early detection, and proactive management. By recognising the symptoms, understanding the types, and exploring available treatment options, you can take control of your cardiovascular health.

• #36 What is Familial Hypercholesterolemia? | American Stroke Association

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

  If not detected and treated early, people with HoFH may develop heart disease in the first 10 years of life, sometimes as early as 2 or 3 years old. […] FH remains underdiagnosed and undertreated. But people with FH have an excellent prognosis if the condition is identified early and treated. […] If not treated early, HoFH can lead to deadly cardiovascular complications in childhood.

• #37 Understanding Homozygous Familial Hypercholesterolemia | American Heart Association

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

  Although only 1 in 300,000 people have homozygous familial hypercholesterolemia or HoFH, the effects of this genetic mutation are devastating without a diagnosis and treatment, said New York City cardiologist Dr. Eugenia Gianos. […] HoFH symptoms usually show up early in life with very high LDL cholesterol (greater than 400 mg/dl). Sadly, even young children with the mutation can have heart disease and heart attacks, Dr. Gianos said. […] Physical symptoms of HoFH include yellowish miscoloring in the skin, which are cholesterol deposits, under the eyes, around the knuckles and around the Achilles tendons. The outer edge of the eye’s cornea may show a white, grey or yellow ring, and the patient may experience thickening in the Achilles tendons, hands or elbows. […] But even though HoFH may cause severe heart disease, early diagnosis and treatment can be successful, Dr. Gianos said. Effective treatments include statins, non-statins and injectable medications, which in combination can make a big difference. […] “We all need to recognize it early. We need to direct patients to the right specialists to get their condition controlled,” she said. “With the right treatment, individuals can have normal, healthy lives.”

• #38 Familial Hypercholesterolemia: Practice Essentials, Background, Pathophysiology

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

  Familial hypercholesterolemia (FH) is an autosomal dominant disorder that causes severe elevations in total cholesterol and low-density lipoprotein cholesterol (LDLc). […] Xanthomas are noted commonly on the Achilles tendons and metacarpal phalangeal extensor tendons of the hands of patients with untreated FH. […] Signs and symptoms of homozygous FH in children include the following: Symptoms consistent with ischemic heart disease, peripheral vascular disease, cerebrovascular disease, or aortic stenosis. […] Most patients with homozygous FH do not survive adulthood beyond age 30 years unless treated with unusual methods, such as liver transplantation, LDL apheresis, or ileal bypass surgery to dramatically lower their LDLc levels. […] Children with heterozygous FH do not have symptoms related to coronary heart disease (CHD), and most do not develop tendon xanthomas or corneal arcus.

• #39 High Cholesterol Symptoms: What to Know

  https://www.healthline.com/health/high-cholesterol-symptoms

  The arteries that supply the heart with blood can slowly narrow due to the buildup of plaque. This process, called atherosclerosis, happens slowly over time and has no symptoms. Eventually, a piece of the plaque can break off. When this happens, a blood clot forms around the plaque. It can block blood flow to the heart muscle and deprive it of oxygen and nutrients. […] People with PAD have a higher risk of having a heart attack, stroke, or limb amputations.

• #40 Familial hypercholesterolemia: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/familial-hypercholesterolemia/

  Familial hypercholesterolemia is an inherited condition characterized by very high levels of cholesterol in the blood. […] People with familial hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease at a young age. […] The abnormal buildup of cholesterol forms clumps (plaques) that narrow and harden artery walls. […] The buildup of plaques in coronary arteries causes a form of chest pain called angina and greatly increases a person’s risk of having a heart attack. […] Familial hypercholesterolemia can also cause health problems related to the buildup of excess cholesterol in tissues other than the heart and blood vessels. […] If cholesterol accumulates in the tissues that attach muscles to bones (tendons), it causes characteristic growths called tendon xanthomas. […] Yellowish cholesterol deposits can develop under the skin of the eyelids and are known as xanthelasmata. […] Cholesterol can also accumulate at the edges of the clear, front surface of the eye (the cornea), leading to a gray-colored ring called an arcus cornealis.

• #41 Familial Hypercholesterolemia: Cardiovascular Risk Stratification and Clinical Management

  https://www.acc.org/Latest-in-Cardiology/Articles/2020/06/01/13/54/Familial-Hypercholesterolemia

  Familial hypercholesterolemia (FH) is caused by inherited autosomal-dominant defects of LDL metabolism. The fundamental pathophysiologic hallmark of FH is accelerated atherosclerosis due to the cumulative lifetime exposure to high concentrations of circulating LDL. Patients with untreated heterozygous FH are at approximately 10-20-fold increased risk for premature coronary artery disease (CAD). This risk can be reduced to that of the general population with appropriate recognition and treatment of FH. […] Although there are many putative clinical and laboratory markers that can provide incremental prognostic information, refining risk stratification with measures of subclinical coronary atherosclerosis in asymptomatic FH individuals appears to be the most promising. […] 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. […] FH is an underdiagnosed yet treatable disorder. Recognizing FH is of utmost importance due to the high risk of premature CAD and major adverse cardiovascular events.

• #42 Familial hypercholesterolemia: Inheriting cholesterol – Sanford Health News

  https://news.sanfordhealth.org/genetics/inheriting-high-cholesterol/

  If you seem likely to have FH, genetic testing would be considered or recommended. Typically, genetic testing finds the underlying genetic cause in 60% to 80% of patients. For others, the diagnosis is based on signs and symptoms. […] “We know they are out there. They are living in our communities. But, so few of them are being identified and treated compared to the number who have FH. It’s a public health concern, and we are bringing awareness so we are able to identify hopefully many more than the 10% of people currently being diagnosed.”

• #43 Familial Hypercholesterolemia: Long Name for Very High Cholesterol – McLeod Health

  https://www.mcleodhealth.org/blog/familial-hypercholesterolemia-long-name-high-cholesterol/

  A man with this disease is likely to have a heart attack in his 40s or 50s. Women face the same risk only delayed by 10 years in their 50s or 60s. […] Many people with FH have no visible symptoms until a heart attack. Other people with FH may see the cholesterol cause visible growths in the hands, fingers, under the eyelids or even on the front surface of the eye. […] With Familial Hypercholesterolemia (FH) abnormally high levels of cholesterol are created and buildups clog and harden arteries, restricting blood flow to the heart. Sometimes it narrows the valves in the heart that control blood flow. All these changes can lead to heart attack and stroke in younger adults. […] FH cant be cured but treatments will reduce symptoms and the likelihood of serious medical problems. […] If you answer YES to any one of these, see a cardiologist. This is important, because only 10% of people in the U.S. with FH have been correctly diagnosed.

• #44 Familial Hypercholesterolemia: Symptoms & Risks – Victor Chang Cardiac Research Institute

  https://www.victorchang.edu.au/heart-disease/familial-hypercholesterolemia

  Familial hypercholesterolemia (FH) is a condition that affects the processing of cholesterol in the body, which leads to elevated levels of LDL bad cholesterol in the blood and increases the risk of early onset heart disease. […] Familial hypercholesterolemia is an inherited condition that is caused by a gene mutation, although symptoms may not appear until adulthood. […] People may not be aware they have familial hypercholesterolemia and the resulting high LDL cholesterol levels as symptoms may not be present until heart disease develops. […] Signs that can indicate familial hypercholesterolemia include: high blood cholesterol levels, family history of familial hypercholesterolemia and/or heart attack at a young age, treatment-resistant high LDL cholesterol in one or both parents, chest pain, heart attack at a young age, cholesterol deposits in skin, eyes, and tendons.

• #45 What’s the difference between FH and standard high cholesterol? – BHF

  https://www.bhf.org.uk/informationsupport/heart-matters-magazine/medical/familial-hypercholesterolaemia

  If you have FH, a healthy lifestyle alone will not be enough to reduce your cholesterol, so you will also need to take medication. […] FH can be easily and effectively treated with a cholesterol-lowering statin. Usually, a high-intensity statin such as atorvastatin or rosuvastatin is needed to bring it down. Sometimes a different cholesterol-lowering drug called ezetimibe is given as well as a statin. Regular follow-up appointments are important, too. Lifestyle changes (see What can I do, above) can also reduce your risk of heart disease. […] FH is caused by changes in one of three genes. Genes are the DNA instructions that our body uses to tell every cell how things should function. […] 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.

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