BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuFamilial hypercholesterolemiaType II hyperlipoproteinemia; Hypercholesterolemic xanthomatosis; Low density lipoprotein receptor mutationFamilial 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.Related topics include:Familial combined hyperlipidemia Familial combined hyperlipidemiaFamilial combined hyperlipidemia is a disorder that is passed down through families. It causes high cholesterol and high blood triglycerides....ImageRead Article Now Book Mark Article Familial hypertriglyceridemia Familial hypertriglyceridemiaFamilial hypertriglyceridemia is a common disorder passed down through families. It causes a higher-than-normal level of triglycerides (a type of fa...ImageRead Article Now Book Mark Article Familial dysbetalipoproteinemiaFamilial dysbetalipoproteinemiaFamilial dysbetalipoproteinemia is a disorder passed down through families. It causes high amounts of cholesterol and triglycerides in the blood....ImageRead Article Now Book Mark Article Causes Familial hypercholesterolemia is a genetic disorder. It is caused by a defect on chromosome 19.The defect makes the body unable to remove low density lipoprotein (LDL, or bad) cholesterol from the blood. This results in a high level of LDL in the blood. This makes you more likely to have narrowing of the arteries from atherosclerosis at an early age. The condition is typically passed down through families in an autosomal dominant manner. That means you only need to get the abnormal gene from one parent in order to inherit the disease.AtherosclerosisAtherosclerosis, sometimes called "hardening of the arteries," occurs when fat, cholesterol, and other substances build up in the walls of arteries. ...ImageRead Article Now Book Mark Article Autosomal dominantAutosomal dominant is one of many ways that a trait or disorder can be passed down through families. In an autosomal dominant disease, if you get the...ImageRead Article Now Book Mark Article Previous imagePlay SlideshowStop SlideshowNext image / In rare cases, a child may inherit the gene from both parents. When this occurs, the increase in cholesterol level is much more severe. The risk for heart attacks and heart disease are high, even in childhood. Symptoms 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 AnginaAngina is a type of chest discomfort or pain due to poor blood flow through the blood vessels (coronary vessels) of the heart muscle (myocardium). Th...Read Article Now Book Mark Article Coronary artery diseaseCoronary heart disease is a narrowing of the small blood vessels that supply blood and oxygen to the heart. Coronary heart disease (CHD) is also cal...ImageRead Article Now Book Mark Article 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 Previous imagePlay SlideshowStop SlideshowNext image / Exams and Tests A physical exam may show fatty skin growths called xanthomas and cholesterol deposits in the eye (corneal arcus).xanthomasXanthoma is a skin condition in which certain fats build up under the surface of the skin.ImageRead Article Now Book Mark Article The health care provider will ask questions about your personal and family medical history. There may be:A strong family history of familial hypercholesterolemia or early heart attacks High level of LDL cholesterol in either or both parents People from families with a strong history of early heart attacks should have blood tests done to determine lipid levels.Related video goes here for no-HTML5 browsersBlood tests may show:High level of total cholesterol Total cholesterolCholesterol is a fat (also called a lipid) that your body needs to work properly. Too much bad cholesterol can increase your chance of getting heart...ImageRead Article Now Book Mark Article High LDL level Normal triglyceride levels TriglycerideThe triglyceride level is a blood test to measure the amount of triglycerides in your blood. Triglycerides are a type of fat. Your body makes some t...ImageRead Article Now Book Mark Article Other tests that may be done include:Studies of cells called fibroblasts to see how the body absorbs LDL cholesterol Genetic test for the defect associated with this condition Treatment The goal of treatment is to reduce the risk of atherosclerotic heart disease. People who get only one copy of the defective gene from their parents may do well with diet changes and statin drugs.Atherosclerotic heart diseaseAtherosclerosis, sometimes called "hardening of the arteries," occurs when fat, cholesterol, and other substances build up in the walls of arteries. ...ImageRead Article Now Book Mark Article LIFESTYLE CHANGESThe first step is to change what you eat. Most of the time, the provider will recommend that you try this for several months before prescribing medicines. Diet changes include lowering the amount of fat you eat so that it is less than 30% of your total calories. If you are overweight, losing weight is very helpful.Change what you eatA healthy diet is a major factor in reducing your risk for heart disease.ImageRead Article Now Book Mark Article Here are some ways to cut saturated fat out of your diet:Eat less beef, chicken, pork, and lamb Replace full-fat dairy products with low-fat products Eliminate trans fats You can lower the amount of cholesterol you eat by eliminating egg yolks and organ meats such as liver.It may help to talk to a dietitian who can give you advice about changing your eating habits. Weight loss and regular exercise may also help lower your cholesterol level.MEDICINESIf lifestyle changes do not change your cholesterol level, your provider may recommend that you take medicines. There are several types of drugs available to help lower blood cholesterol level, and they work in different ways. Some are better at lowering LDL cholesterol, some are good at lowering triglycerides, while others help raise HDL cholesterol. Many people will be on several medicines.Statin drugs are commonly used and are very effective. These drugs help lower your risk of heart attack and stroke. They include:Lovastatin (Mevacor) Pravastatin (Pravachol) Simvastatin (Zocor) Fluvastatin (Lescol) Atorvastatin (Lipitor) Pitivastatin (Livalo) Rosuvastatin (Crestor)Other cholesterol-lowering medicines include:Bile acid-sequestering resins. Ezetimibe. Fibrates (such as gemfibrozil or fenofibrate). Nicotinic acid. Nicotinic acidNiacin is a type of B vitamin. It is a water-soluble vitamin. It is not stored in the body. Water-soluble vitamins dissolve in water. Leftover am...ImageRead Article Now Book Mark Article PCSK9 inhibitors, such as alirocumab (Praluent) and evolocumab (Repatha). These represent a newer class of drugs to treat high cholesterol. People with a severe form of the disorder may need a treatment called apheresis. Blood or plasma is removed from the body. Special filters remove the extra LDL cholesterol, and the blood plasma is then returned to the body. Outlook (Prognosis) How well you do depends on how closely you follow your provider's treatment advice. Making diet changes, exercising, and taking your medicines correctly can lower cholesterol level. These changes can help delay a heart attack, especially for people with a milder form of the disorder. Men and women with familial hypercholesterolemia typically are at increased risk of early heart attacks.Risk of death varies among people with familial hypercholesterolemia. If you inherit two copies of the defective gene, you have a poorer outcome. That type of familial hypercholesterolemia does not respond well to treatment and may cause an early heart attack. Possible Complications Complications may include:Heart attack at an early age Heart disease Stroke Peripheral vascular disease When to Contact a Medical Professional Seek medical care right away if you have chest pain or other warning signs of a heart attack.Call your provider if you have a personal or family history of high cholesterol level. Prevention A diet low in cholesterol and saturated fat and rich in unsaturated fat may help to control your LDL level.People with a family history of this condition, particularly if both parents carry the defective gene, may want to seek genetic counseling. Open ReferencesReferencesGenest J, Libby P. Lipoprotein disorders and cardiovascular disease. In: Zipes DP, Libby P, Bonow RO, Mann DL, Tomaselli GF, Braunwald E, eds. Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 11th ed. Philadelphia, PA: Elsevier; 2019:chap 48.Robinson JG. Disorders of lipid metabolism. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 195.AllVideoImagesTogXanthoma - close-up - illustration Xanthomas are lesions on the skin containing cholesterol and fats. They are often associated with inherited disorders of lipid metabolism (inherited problems with the way that fats are broken down and used).Xanthoma - close-upillustrationXanthoma on the knee - illustration Xanthomas are raised, waxy-appearing, frequently yellowish-colored skin lesions, seen here on the knee. These may be associated with an underlying lipid (cholesterol/triglyceride) abnormality.Xanthoma on the kneeillustrationCoronary artery blockage - illustration Atherosclerosis is a common disorder of the arteries. Fat, cholesterol, and other substances collect in the walls of arteries. Larger accumulations are called atheromas or plaque and can damage artery walls and block blood flow. Severely restricted blood flow in the heart muscle leads to symptoms such as chest pain.Coronary artery blockageillustrationXanthoma - close-up - illustration Xanthomas are lesions on the skin containing cholesterol and fats. They are often associated with inherited disorders of lipid metabolism (inherited problems with the way that fats are broken down and used).Xanthoma - close-upillustrationXanthoma on the knee - illustration Xanthomas are raised, waxy-appearing, frequently yellowish-colored skin lesions, seen here on the knee. These may be associated with an underlying lipid (cholesterol/triglyceride) abnormality.Xanthoma on the kneeillustrationCoronary artery blockage - illustration Atherosclerosis is a common disorder of the arteries. Fat, cholesterol, and other substances collect in the walls of arteries. Larger accumulations are called atheromas or plaque and can damage artery walls and block blood flow. Severely restricted blood flow in the heart muscle leads to symptoms such as chest pain.Coronary artery blockageillustrationRelated Information Heart attack(Condition)Atherosclerosis(Condition)Cholesterol - what to ask your doctor (Doctor Questions)Cholesterol(In-Depth)Heart attack and acute coronary syndrome(In-Depth) Review Date: 6/25/2020 Reviewed By: Micaela Iantorno, MD, MSc, FAHA, RPVI, Interventional Cardiologist at Mary Washington Hospital Center, Fredericksburg, VA. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. 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