Genetic testing was a wake-up call for me. It helped to motivate me to take my drug and give me confidence in my diagnosis of Familial hypercholesterolemiaKari (FH advocate for awareness)
let’s understand what is Familial hypercholesterolemia
Familial hypercholesterolemia (FH) for short, is known as a genetic condition, that passed down through families. It can raise the LDL (bad) cholesterol level to a very high level.
FH is a common life-threatening genetic condition that causes high cholesterol. Untreated, FH leads to early heart attacks and heart disease.
As a matter of fact, people with FH would have a high amount of LDL also known as the “bad cholesterol”. This is due to the variation in one of the genes that control the way cholesterol is cleared from the body. As a result, cholesterol accumulates in the bloodstream and can ultimately build up in the walls of the arteries.
When the level of cholesterol increases, plaques build up on the artery wall and cause hardening of the arteries, this is known as atherosclerosis, and can lead to problems such as heart attacks and strokes in young adults and even children.
FH passes down through families. When one of the family members diagnosed with FH, it is important for all of the other family members to be screened for FH.
It’s advised to start the treatment early. Although lifestyle and diet are important factors to stay heart healthy but that is not enough for individuals with FH.
“For every one diagnosed or known case of high cholesterol, there were four cases of undiagnosed or high blood cholesterol cases“Dr. Dzulkefly Ahmad, health minister
Based on the National Health and Morbidity Survey 2015, the overall prevalence in 2015 of high cholesterol among Malaysian adults, aged 18 and above, was 47.7% which is about 9.6 million. In addition, the prevalence is higher among females at 52.2% compared to males at 43.5%.
The inhertance pattern of FH
FH is a transmitted disease, like many other genetic conditions. For each child of a parent with FH has a 50% chance of inheriting the disorder. So it is important to screen parents, siblings and children of a person diagnosed with FH to find others who may also have inherited the causing genes.
At the present, most people with FH have variants in one of three genes: LDLR gene, APOB gene, and PCSK9 gene. To date, there are over 2,000 genes vartions known for FH.
There are different types of FH variation. Depends on which type you inherit, it will affect the type of FH you may have, for example:
How do I know I have FH?
FH is usually an “invisible” disease. By this, it means that often people do not show visible signs of FH.
There are two main indicators of an FH diagnosis
- Very high levels of LDL cholesterol, which do not go down with diet and exercise.
- Family history of early heart disease and/or heart attacks.
In contrast, sometimes some people show some of the visible signs of FH, especially when their LDL-cholesterol is very high. These include:
Is There a Specific Test for FH?
There are different types of FH, as it can be caused by alterations in different genes. Genetic testing means your doctor can find out if you definitely have FH and which type you have as the tests can find the specific gene involved.
The main difference between Familial Hypercholesterolemia and lifestyle-induced high cholesterol is the “familial” aspect. In other words, FH inherits the high cholesterol that can not be treated which is different from the cholesterol caused by eating too many burgers for example.
This is why it is extremely important that you are aware of your family’s medical history and you report it to your physician.
Now if you have FH and you need to change your diet. What’s next?
Though some things are out of your control, FH can make you feel powerless as the doctor cannot prevent or stop it from happening.
However, once you diagnosed with FH, the doctor can take certain actions to limit its impact. While every detail of your lifestyle is important. Such as the food you eat, if you are exercising regularly, whether you smoke or not.
In addition to that, a patient with FH always requires specific drugs. In order to maintain the current level of cholesterol. likewise, FH is a lifelong journey of commitment to certain lifestyle decisions.
What to avoid if I have FH?
People with FH need to ensure to straive fat intake to a minimum. The most harmful types of fat are saturated fat and trans fat. The figure below shows where you can find these types of fat:
As a rule of thumb, avoid too much-processed foods. Try to eat fresh by cooking homemade healthy meals from scratch. And most importantly beware of hidden trans fats known as ” partially hydrogenated”. In this case, if you refer to the figure on the right of the nutrition facts table, you would find the partially hydrogenated in the ingredients section.
WHAT TO EAT: Dietary fiber is the most suitable food for FH patient. Fiber is found in especially in the plant foods such as fruits, vegetables, whole grains, nuts, seeds and legumes. Indeed researchers stated that eating more than 25 grams of fibre per day can reduce the risk of heart disease.
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Labtestsonline.org. (2018). Experts: Genetic Testing Can Improve Diagnosis of Familial Hypercholesterolemia | Lab Tests Online. [online] Available at: https://labtestsonline.org/news/experts-genetic-testing-can-improve-diagnosis-familial-hypercholesterolemia [Accessed 20 Sep. 2019].