Genetic Testing and Patient Management of Familial Hypercholesterolemia

Familial Hypercholesterolemia (FH) is a relatively common and life-threatening genetic disorder that, if left untreated, leads to premature coronary artery disease and loss of life to the affected patients. It causes high levels of low-density lipoprotein, also known as bad cholesterol when genes that oversee the clearing of cholesterol from the body mutate.

The build-up of cholesterol in the bloodstream and further in the arterial walls may lead to hardened arteries or atherosclerosis and usually ends in a stroke or a heart attack. 

Familial Hypercholesterolemia is inheritable passing down through families; thus, it is important to screen all family members for the condition if one is diagnosed with FH.

Let’s look at the general testing protocols and patient management of Familial Hypercholesterolemia.

What You Should Know Before Testing for FH

  • FH is a Critical Health Issue

This disorder affects at least 0.2% of the population and results in premature coronary heart disease. The prevalence of this particular disorder might be two times higher.

  • Natural History

Half of the untreated men are likely to develop CHD before they are 50 years old, and 30% of women before they are 60 years old.

  • Early Detection and Treatment

FH is detectable at an early age before cardiovascular problems develop. Like any other condition, an early FH diagnosis leads to a better treatment outcome.

  • The Risks of Screening

There are potential screening risks such as side effects of medication and psychosocial impact. However, the health benefits of screening, such as preventing cardiovascular complications, outweigh these risks, and screening is encouraged.

Screening Models and Protocols

  • Family Cascade Screening

Family cascade screening involves screening people close to an individual already diagnosed with Familial Hypercholesterolemia or an index case, as they are medically referred. Relatives to undergo screening are picked according to the degree of family lineage, and diagnosis is made through lipid testing.

  • Lipid Cascade Screening

Lipid cascade screening is a practical strategy to diagnose individuals with FH in a clinical setting. A marked difference in LDL-cholesterol (LDL-C) amounts between patients with and without FH forms the typical lipid precedent in an FH family. For the affected individuals, the LDL-C levels are 3.5mmol/l, while the unaffected ones have 3mmol/l and below. But can be a variation of these levels depending on gender, age, and region.

  • Genetic Cascade Genetic Screening

This screening involves molecular DNA testing to establish the affected individuals in families whose FH mutation is known. Unlike clinical diagnosis and lipid screening, whose specificity and sensitivity range between 0.7 and 0.85, genetic screening of first-degree relatives is a more reliable approach since it results in 1.0.

  • General Population Screening

The general screening program for high cholesterol levels is becoming popular due to its high detection rates, unlike selective screening. During a general population screening, the LDL levels obtained suggest an 80% likelihood to have Familial Hypercholesterolemia depending on the age. The LDL levels include 6.7 mmol/l for individuals from 30 years and above, 5.7 mmol/l for individuals between 20 and 29 years old, and 4.9 mmol/l for individuals below 20 years.

Clinical testing continuum with a well-rounded address to cardiovascular disease can improve the understanding and experience of individuals seeking medical help. Contact us today for assistance with obtaining more information on FH genetic screening for your patients.