Table of ContentsView AllTable of ContentsWhat Is It?TypesSymptomsDiagnosisTreatmentPrognosis
Table of ContentsView All
View All
Table of Contents
What Is It?
Types
Symptoms
Diagnosis
Treatment
Prognosis
Purehypercholesterolemia, or familial hypercholesterolemia (FH), is a common genetic disorder associated with high cholesterol. People with this condition may have elevatedlow-density lipoprotein (LDL) cholesterol levelsand prematurecoronary heart disease.
According to the Familial Hypercholesterolemia Foundation, an estimated one in 250 people worldwide have pure hypercholesterolemia. Still, the condition remains underdiagnosed in the general population.As a result, many patients with FH are diagnosed only at the time of their first coronary event.
This article explores the types, symptoms, and causes of PH. Learn how it is diagnosed and treated and the prognosis for those with PH.
What Is Pure Hypercholesterolemia?
While 60% to 80% of people with FH have a mutation in one of these three genes, many other mutations have yet to be discovered. Therefore, the actual risk of FH is unknown.
FH genes are passed down from one or both parents. Defects can increase atherosclerosis risk and lead to massive buildup of cholesterol in the arteries, which puts you at higher risk of heart attack and heart disease.
Is pure hypercholesterolemia the same as high cholesterol?
Types of Pure Hypercholesterolemia
Every person inherits two copies of the genes involved in cholesterol regulation, one from your mother and one from your father. A mutation in only one copy of one of the genes is enough to cause familial hypercholesterolemia. If your mother or father has a mutation that causes FH, they have a 50% chance of passing it on to you.
In very rare cases, a person can inherit two familial hypercholesterolemia-causing mutations, which result in a much more severe form of FH calledhomozygous FH.
People with homozygous FH have incredibly high levels of cholesterol and can have heart attacks in childhood. This rare group must be placed on cholesterol-lowering medications right away, sometimes as young as 2 or 3 years old, to avoid life-threatening complications.
Pure Hypercholesterolemia Symptoms
High cholesterol levels are usually detected with a blood test without symptoms.
Pure Hypercholesterolemia Is Genetic
Diagnosing Pure Hypercholesterolemia
Parents with pure hypercholesterolemia will pass on the trait for the disease to their children about 50% of the time. Therefore, any child born to a parent with FH should have their cholesterol checked between the ages of 2 and 10 years old, especially if they are experiencing any of the symptoms above.
The symptoms, family history, and physical exam may raise suspicion of familial hypercholesterolemia. As a result, a healthcare provider may use a blood test to measure serum cholesterol levels.
According to the American Heart Association, an LDL cholesterol greater than 190 mg/dL in adults (160 mg/dL in children) and a family history of a first-degree relative with premature coronary heart disease is required for a diagnosis of pure hypercholesterolemia.Genetic testing may confirm the diagnosis if blood tests are inconclusive, but additional testing is not usually needed.
If you are experiencing heart symptoms, you may be asked to undergo anechocardiogramand acardiac stress testto elucidate further how your high cholesterol levels are affecting your heart’s ability to function properly.
Pure Hypercholesterolemia Treatment
The primary and most essential treatment for pure hypercholesterolemia is aggressive cholesterol-lowering drug therapy. Statins are a first-line therapy for familial hypercholesterolemia, but additional medications and lifestyle interventions, such as diet and exercise, may be needed to meet target cholesterol levels.Lifestyle modifications may also be indicated, including:
Intensive drug therapy is always indicated for pure hypercholesterolemia, while lifestyle modifications are, at best, supplemental treatment.
Treatments for Extreme CasesIf you have extremely high cholesterol levels that are hard to manage, other more extreme treatments may take place, including:LDL-apheresis:During this procedure, excess cholesterol is removed from the blood through a filtration process one to two times a week or as needed, depending on the severity and effectiveness of the treatment.Liver transplant:This is extremely rare and often considered a last resort.
Treatments for Extreme Cases
If you have extremely high cholesterol levels that are hard to manage, other more extreme treatments may take place, including:LDL-apheresis:During this procedure, excess cholesterol is removed from the blood through a filtration process one to two times a week or as needed, depending on the severity and effectiveness of the treatment.Liver transplant:This is extremely rare and often considered a last resort.
If you have extremely high cholesterol levels that are hard to manage, other more extreme treatments may take place, including:
How Familial Hypercholesterolemia Is Treated
If you have FH, finding the disorder early and treating it can reduce your risk of heart disease substantially. In people with homozygous familial hypercholesterolemia—the most severe form of the disease—aggressive medical therapy will likely add decades of good health to their lives.
Due to medical advances and more knowledge on how to adequately treat pure hypercholesterolemia, it is not uncommon for people with FH to have an average life expectancy.
Of note, people with a history of coronary artery disease or a recent cardiovascular event have a worse prognosis than those who have not had either. A recent study also found that those with FH and acute coronary syndrome are twice as likely to have a repeat coronary event within their first year after discharge compared to those without FH, despite the use of a high-intensity statin.
Without treatment, pure hypercholesterolemia can lead to coronary artery disease. This can result in adverse effects including heart attack and cardiac arrest.
Summary
Pure hypercholesterolemia is a common inherited disorder associated with elevated low-density lipoprotein (LDL) cholesterol levels and premature coronary heart disease. It is a highly treatable condition that requires a combination of lifestyle changes and medication adherence.
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8 SourcesVerywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Nanchen D, Gencer B, Muller O, et al.Prognosis of patients with familial hypercholesterolemia after acute coronary syndromes.Circulation. 2016;134(10):698-709. doi:10.1161/CIRCULATIONAHA.116.023007Centers for Disease Control and Prevention.Familial hypercholesterolemia.Familial Hypercholesterolemia Foundation.Signs and symptoms of familial hypercholesterolemia.Gidding SS, Ann Champagne M, de Ferranti SD, et al.The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association.Circulation. 2015;132(22):2167-2192. doi:10.1161/CIR.0000000000000297Pang J, Chan DC, Watts GF.The knowns and unknowns of contemporary statin therapy for familial hypercholesterolemia.Curr Atheroscler Rep. 2020;22(11):64. doi:10.1007/s11883-020-00884-2U.S. Preventive Services Task Force.Healthy Diet and Physical Activity for Cardiovascular Disease Prevention in Adults with Cardiovascular Risk Factors: Behavioral Counseling Interventions.Reiter-Brennan C, Osei AD, Iftekhar Uddin SM, et al.ACC/AHA lipid guidelines: personalized care to prevent cardiovascular disease.CCJM. 2020;87(4):231-239. doi:10.3949/ccjm.87a.19078National Heart, Lung, and Blood Institute. National Institutes of Health.What Is Coronary Artery Disease?
8 Sources
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.Nanchen D, Gencer B, Muller O, et al.Prognosis of patients with familial hypercholesterolemia after acute coronary syndromes.Circulation. 2016;134(10):698-709. doi:10.1161/CIRCULATIONAHA.116.023007Centers for Disease Control and Prevention.Familial hypercholesterolemia.Familial Hypercholesterolemia Foundation.Signs and symptoms of familial hypercholesterolemia.Gidding SS, Ann Champagne M, de Ferranti SD, et al.The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association.Circulation. 2015;132(22):2167-2192. doi:10.1161/CIR.0000000000000297Pang J, Chan DC, Watts GF.The knowns and unknowns of contemporary statin therapy for familial hypercholesterolemia.Curr Atheroscler Rep. 2020;22(11):64. doi:10.1007/s11883-020-00884-2U.S. Preventive Services Task Force.Healthy Diet and Physical Activity for Cardiovascular Disease Prevention in Adults with Cardiovascular Risk Factors: Behavioral Counseling Interventions.Reiter-Brennan C, Osei AD, Iftekhar Uddin SM, et al.ACC/AHA lipid guidelines: personalized care to prevent cardiovascular disease.CCJM. 2020;87(4):231-239. doi:10.3949/ccjm.87a.19078National Heart, Lung, and Blood Institute. National Institutes of Health.What Is Coronary Artery Disease?
Verywell Health uses only high-quality sources, including peer-reviewed studies, to support the facts within our articles. Read oureditorial processto learn more about how we fact-check and keep our content accurate, reliable, and trustworthy.
Nanchen D, Gencer B, Muller O, et al.Prognosis of patients with familial hypercholesterolemia after acute coronary syndromes.Circulation. 2016;134(10):698-709. doi:10.1161/CIRCULATIONAHA.116.023007Centers for Disease Control and Prevention.Familial hypercholesterolemia.Familial Hypercholesterolemia Foundation.Signs and symptoms of familial hypercholesterolemia.Gidding SS, Ann Champagne M, de Ferranti SD, et al.The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association.Circulation. 2015;132(22):2167-2192. doi:10.1161/CIR.0000000000000297Pang J, Chan DC, Watts GF.The knowns and unknowns of contemporary statin therapy for familial hypercholesterolemia.Curr Atheroscler Rep. 2020;22(11):64. doi:10.1007/s11883-020-00884-2U.S. Preventive Services Task Force.Healthy Diet and Physical Activity for Cardiovascular Disease Prevention in Adults with Cardiovascular Risk Factors: Behavioral Counseling Interventions.Reiter-Brennan C, Osei AD, Iftekhar Uddin SM, et al.ACC/AHA lipid guidelines: personalized care to prevent cardiovascular disease.CCJM. 2020;87(4):231-239. doi:10.3949/ccjm.87a.19078National Heart, Lung, and Blood Institute. National Institutes of Health.What Is Coronary Artery Disease?
Nanchen D, Gencer B, Muller O, et al.Prognosis of patients with familial hypercholesterolemia after acute coronary syndromes.Circulation. 2016;134(10):698-709. doi:10.1161/CIRCULATIONAHA.116.023007
Centers for Disease Control and Prevention.Familial hypercholesterolemia.
Familial Hypercholesterolemia Foundation.Signs and symptoms of familial hypercholesterolemia.
Gidding SS, Ann Champagne M, de Ferranti SD, et al.The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association.Circulation. 2015;132(22):2167-2192. doi:10.1161/CIR.0000000000000297
Pang J, Chan DC, Watts GF.The knowns and unknowns of contemporary statin therapy for familial hypercholesterolemia.Curr Atheroscler Rep. 2020;22(11):64. doi:10.1007/s11883-020-00884-2
U.S. Preventive Services Task Force.Healthy Diet and Physical Activity for Cardiovascular Disease Prevention in Adults with Cardiovascular Risk Factors: Behavioral Counseling Interventions.
Reiter-Brennan C, Osei AD, Iftekhar Uddin SM, et al.ACC/AHA lipid guidelines: personalized care to prevent cardiovascular disease.CCJM. 2020;87(4):231-239. doi:10.3949/ccjm.87a.19078
National Heart, Lung, and Blood Institute. National Institutes of Health.What Is Coronary Artery Disease?
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