Familial Hypercholesterolemia Genetic Testing

(2 customer reviews)


Familial Hypercholesterolemia Genetic Testing


Familial Hypercholesterolemia

Familial Hypercholesterolemia Genetic Testing is on the rise now that more providers are actually seeing this as a disease verses a condition. There are many drugs on the market that will help treat increased levels but doctors now believe that FAMILY HISTORY may play a huge part in your increased risk of cardiac disease.

What is Familial hypercholesterolemia?

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.

How does FH affect your body?

Familial hypercholesterolemia (FH) can be caused by inherited changes (mutations) in the LDLR, APOB, and PCSK9 genes, which affect how your body regulates and removes cholesterol from your blood. About 60-80% of people with FH have a mutation found in one of these three genes

Types Of Genetic Tests Available to those who want to know if they have a cardiac genetic predisposition?

The following article will discuss the various types of cardiac genetic testing currently available and who should undergo testing. Keep in mind regarding all genetic testing the clinical significant difference between expression and penetrance of a gene. In layman’s terms, this means that simply because a gene is present does not 100% guarantee that a syndrome or phenotype will emerge or “express” itself. Not all genes are a death sentence, but may simply mean that an individual is predisposed to a disease. In this case, behavior and lifestyle modifications can be made to prevent developing pathology.

  1. Hypertrophic Cardiomyopathy (HCM), also known as hypertrophic obstructive cardiomyopathy (HOCM).  Heart muscle cells contain a genetic mutation that causes the walls of the heart to become enlarged, which can eventually obstruct normal blood flow. This is the most common cause of sudden cardiac arrest in young adult athletes. These patients are usually asymptomatic; they may have a murmur or feel a bit fatigued when exercising. Important family history includes sudden cardiac arrest. Diagnosis includes obtaining a cardiac ultrasound.
  2. Arrhythmias including Long QT syndrome or Brugada syndrome. These are rare genetic mutations of electrolyte channels that prevent electricity in the heart from conducting correctly. Symptoms include palpitations, fainting, seizure-like episodes, or cardiac arrest. Diagnosis includes obtaining an electrocardiogram (ECG or EKG). 
  3. Cardiomyopathy. There are several types of genetic mutations that cause deposits to accumulate in heart cells, destroying the natural elasticity of the walls. This ultimately results in heart failure. Symptoms include chest pain/tightness, shortness of breath, and leg swelling This is common in those with developmental delays, hemochromatosis, and arrhythmias.
  4. Congenital Heart Disease.  Some babies are born with heart defects such as holes in the walls or improperly formed valves. This is common in the mentally handicapped or those with developmental delays. 
  5. Hereditary Telangiectasia and vascular malformations. Some genetic defects cause arteries and veins to form incorrectly, or have weakened walls. This increases a patient’s risk of having a stroke or bleeding complication. Symptoms include frequent copious nosebleeds, seizures, anemia, and lacy red vessels and spots on the face, lips, and tongue. 
  6. Lipid Disorders. Extensive genes are involved in regulating cholesterol and triglyceride absorption, distribution, metabolism, and transport in the blood. Some patients are genetically predisposed to absorb and retain high levels of both, which contribute to dangerous coronary artery plaque formation. Early signs include abnormally high levels of cholesterol and triglycerides under the age of 30. Genetic testing is still recommended for those over the age of 40 who cannot lower these levels with diet changes, exercise, and prescription medication. Guidelines do not recommend starting medication until over the age of 40 in normal circumstances, however, if a patient has a known genetic defect, then aggressive lipid-lowering therapy may be started earlier. The physician will be alerted to screen the patient at a much earlier age for coronary and peripheral artery disease and plaque formation, with routine surveillance. Lipid disorders are one of the most common genetic contributors to heart disease worldwide. 


This site is designed to inform and educate consumers so they can start a conversation with their primary care provider and is not intended to diagnose or treat any condition.

2 reviews for Familial Hypercholesterolemia Genetic Testing

  1. Jeff Cline

    I received my test in just a few days and sent it back, It was pain-free and easy!

  2. Jeff Cline

    Michele was very nice and explained the process to both my wife and daughter.

Add a review

Your email address will not be published. Required fields are marked *