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.
This article explores the types, symptoms, and causes of PH.
Illustration by Julie Bang for Verywell Health
Learn how it is diagnosed and treated and the prognosis for those with PH.
Illustration by Julie Bang for Verywell Health
What Is Pure Hypercholesterolemia?
Therefore, the actual risk of FH is unknown.
FH genes are passed down from one or both parents.
Is pure hypercholesterolemia the same as high cholesterol?
Pure hypercholesterolemia is one genetic cause of high cholesterol.
The impact of high cholesterol is the same whether it is sparked by pure hypercholesterolemia or another reason.
A mutation in only one copy of one of the genes is enough to cause familial hypercholesterolemia.
Most people with pure hypercholesterolemia only have one related mutation, calledheterozygousFH.
People with homozygous FH have incredibly high levels of cholesterol and can have heart attacks in childhood.
Pure Hypercholesterolemia Symptoms
High cholesterol levels are usually detected with a blood test without symptoms.
People who have this condition are born with it.
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.
Pure Hypercholesterolemia Treatment
The primary and most essential treatment for pure hypercholesterolemia is aggressive cholesterol-lowering drug therapy.
Without treatment, pure hypercholesterolemia can lead to coronary artery disease.
This can result in adverse effects including heart attack and cardiac arrest.
It is a highly treatable condition that requires a combination of lifestyle changes and medication adherence.
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Centers for Disease Control and Prevention.Familial hypercholesterolemia.
Familial Hypercholesterolemia Foundation.Signs and symptoms of familial hypercholesterolemia.
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National Institutes of Health.What Is Coronary Artery Disease?
