JP Stroke Foundation

There are many things that you may inherit from your family such as your facial features, hair colour and even parts of your personality! However, it’s important to watch out for things that may not be visibly obvious, like genetic disorders— which arise when mutated genes are passed down from parent to child. 

Familial hypercholesterolemia (FH) is an example of a life-threatening genetic disorder that is inherited and passed down through families [2]. The defect on that specific gene is passed down in an autosomal dominant fashion [3]. All it takes is one parent with a mutated gene, for the genetic disorder to be passed down to their child [3]. In cases where both parents are affected by the mutation, the effects of this disorder are much more severe [3]. 

What is Familial Hypercholesterolemia (FH) ?

This condition causes low density lipoprotein (LDL)— which is bad cholesterol, to be dangerously high [2]. High LDL in the bloodstream is due to the body’s inability to get rid of the bad cholesterol, causing it to build up in the walls of the arteries [2]. This malfunctioning is due to a mutation on the gene that controls how LDL is removed from the body [2]. When the arteries are clogged with cholesterol, they begin to harden and cause diseases such as coronary artery disease, atherosclerosis, strokes, and heart attacks [2].

The consequences of high cholesterol levels are severe, as FH could cause heart disease and heart attacks from birth and at an early age [3]. Even children with FH have a high risk for strokes and heart attacks because of the blockages in the arteries of the heart and brain due to the accumulation of cholesterol [2]. 

Why should we be aware of FH?

First of all, FH occurs in 1 out of 250 people, making it an extremely common and life-threatening genetic disease [2]. However, this condition severely lacks public awareness [2]. This genetic disorder is under diagnosed and 90% of people who have it, don’t know that they do [2]. The symptoms of FH are not visible, as high cholesterol levels could be written off as a symptom of various cardiovascular diseases [2]. The reason for that is because high cholesterol levels are rarely associated with a genetic origin [2]. 

Early diagnosis of FH could help people live longer lives and receive the medical care that they need to significantly lower their LDL levels [2]. Affected individuals often undergo intensive medical treatment using a class of drugs known as statins or even other drugs such as PCSK9 inhibitors and bile acid sequestrates [1]. Lifestyle changes such as physical activity and healthy eating are great long-term practices to maintain a healthy heart and body [1].

The good news is that FH is treatable and cardiovascular diseases can be prevented using early prevention methods and treatments to lower the high cholesterol levels. Since high cholesterol levels are often detected when heart disease is already present, it is essential that FH is detected early on. FH can be identified using blood tests, performing genetic testing and analyzing family history of cardiovascular disease [2]. Once an individual is diagnosed with this genetic disorder, their family members should be screened to evaluate their risk of developing cardiovascular disease [1]. 

It’s important to be aware of the link between genetics and high cholesterol levels so that the symptoms of cardiovascular disease can be accurately traced and the family members of individuals with FH can be screened for cardiovascular symptoms and treated accordingly, ensuring that the individual and future generations live healthy lives [2]. 

Author: Aparna Mahes

References

[1] American Heart Association. (2020, November 9). Familial Hypercholesterolemia (FH). American Heart Association. https://www.heart.org/en/health-topics/cholesterol/causes-of-high-cholesterol/familial-hypercholesterolemia-fh

[2] The FH Foundation. (n.d.). What is Familial Hypercholesterolemia? The FH Foundation. https://thefhfoundation.org/familial-hypercholesterolemia/what-is-familial-hypercholesterolemia

[3] MedlinePlus. (2021, November 2). Familial hypercholesterolemia. MedlinePlus. https://medlineplus.gov/ency/article/000392.htm