What is heterozygous hyperlipidemia?
Heterozygous Familial Hypercholesterolemia (HeFH) is an inherited genetic disorder that causes dangerously high cholesterol levels, which can lead to heart disease, heart attack, or stroke at an early age if left untreated.
Why is FH underdiagnosed?
According to the Consensus Statement published by the European Atherosclerosis Society, more than 90% (and maybe as high as 99%) of individuals with FH in the US have not been properly diagnosed due to gaps in screening, recognition and classification of FH.
What is familial hypercholesterolemia in simple terms?
Familial hypercholesterolemia (FH) is a diagnosis which refers to individuals with very significantly elevated low-density lipoprotein (LDL) cholesterol (LDL-C) or “bad cholesterol” and an increased risk of early onset of coronary artery disease if not sufficiently treated.
What is familial hypercholesterolemia and how is it inherited?
Familial Hypercholesterolemia is an autosomal dominant genetic disorder, meaning that only one parent needs to have the condition for his or her children to inherit it. The abnormal gene is dominant, so even if the child receives a healthy gene from the second parent, the altered gene will override the healthy one.
How is homozygous familial hypercholesterolemia diagnosed?
Diagnosing Homozygous Familial Hypercholesterolemia HoFH can be diagnosed with a simple blood test, a physical exam, and family history. The signs and symptoms of HoFH, including the level of LDL-C, vary from person to person. HoFH may be confirmed with genetic testing.
Is familial hypercholesterolemia underdiagnosed?
If untreated, familial hypercholesterolemia confers a greatly elevated risk for CVD. Yet, familial hypercholesterolemia is routinely underdiagnosed in much of the world, including the United States.
Can I live a long life with FH?
FH has no cure, but it’s treatable. Life expectancy with FH is lower without treatment, but the sooner you receive a correct diagnosis and start medication, the better your outlook and life expectancy. FH is inherited from one or both of your parents and requires treatment with medication to lower your LDL cholesterol.
What happens familial hypercholesterolemia?
People with FH have increased blood levels of low-density lipoprotein (LDL) cholesterol, sometimes called “bad cholesterol.” Having too much LDL cholesterol in your blood increases your risk for developing coronary artery disease or having a heart attack.
What does familial hypercholesterolemia do to the body?
Familial hypercholesterolemia – Symptoms and causes – Mayo Clinic.
What happens to a person with familial hypercholesterolemia?
Familial hypercholesterolemia (FH) is a common life-threatening genetic condition that causes high cholesterol. Untreated, FH leads to early heart attacks and heart disease*
Is there a way to test for familial hypercholesterolemia?
The good news is that FH can be diagnosed with a simple blood test and a reported family history of early cardiovascular disease. Genetic testing can be used to confirm the presence of FH. And with early and regular treatment, individuals with FH can live longer, healthier lives.
Is there a cure for familial hypercholesterolemia?
Genetic testing can be used to confirm the presence of FH. And with early and regular treatment, individuals with FH can live longer, healthier lives. FH can be diagnosed with a simple test and family history. Treatment for FH begins with medicine, along with a heart healthy diet.
Which is an inherited mutation of hypercholesterolemia?
One Inherited Mutation – Called Heterozygous Familial Hypercholesterolemia (HeFH), one abnormal mutation is passed down to a child, typically from one parent.