Familial hypercholesterolemia is a disorder of high LDL ("bad") cholesterol that is passed down...
10
Familial Hypercholesterolemia By: Trevor Schmitt, Sam Muccione, and Alex Boniakowski
Familial hypercholesterolemia is a disorder of high LDL ("bad") cholesterol that is passed down through families, which means it is inherited. The condition
Familial hypercholesterolemia is a disorder of high LDL ("bad")
cholesterol that is passed down through families, which means it is
inherited. The condition begins at birth and can cause heart
attacks at an early age.
Slide 4
Symptoms that may occur include: Fatty skin deposits called
xanthomas over the elbows, knees, buttocks, tendons, and around the
cornea of the eye. See an example.example Cholesterol deposits in
the eyelids (xanthelasmas). Picture. Picture Chest pain (angina) or
other signs of coronary artery disease; may be present at a young
age.
Slide 5
The goal of treatment is to reduce the risk of atherosclerotic
heart disease. Those who inherit only one copy of the defective
gene may respond well to diet changes combined with statin drugs.
Diet changes include reducing total fat intake to less than 30% of
the total calories you eat. You can reduce your saturated fat
intake by: Decreasing amounts of beef, chicken, pork, and lamb
Substituting low-fat dairy products for full-fat ones Eliminating
coconut and palm oils You can reduce your the amount of cholesterol
you eat by eliminating egg yolks and organ meats. Dietary
counseling is often recommended to help people make these
adjustments to their eating habits. Weight loss and regular
exercise may also aid in lowering cholesterol levels.
Slide 6
There are several types of drugs available to help lower blood
cholesterol levels, 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. The most
commonly used and effective drugs for treating high LDL cholesterol
are called statins. Those with more severe forms of this disorder
may need a treatment called extracorporeal apheresis. This is the
most effective treatment. Blood or plasma is removed from the body.
Special filters then remove the extra LDL-cholesterol, and the
blood plasma is then returned.
Slide 7
Inherited forms of hypercholesterolemia resulting from
mutations in the LDLR, APOB, or PCSK9 gene have an autosomal
dominant pattern of inheritance. Autosomal dominant inheritance
means one copy of an altered gene in each cell is sufficient to
cause the disorder. An affected person typically inherits one
altered copy of the gene from an affected parent and one normal
copy of the gene from the other parent. When hypercholesterolemia
is caused by mutations in the LDLRAP1 gene, the condition is
inherited in an autosomal recessive pattern. Autosomal recessive
inheritance means the condition results from two altered copies of
the gene in each cell. The parents of an individual with autosomal
recessive hypercholesterolemia each carry one copy of the altered
gene, but their blood cholesterol levels are usually in the normal
range.