Outline
Introduction
Hypercholesterolemia - Regular and Familial
In simple terms, Hypercholesterolemia refers to high cholesterol in the body. Cholesterol, as stated by Dr.Mandel, “is a waxy substance that is produced by the liver and is a component of all cells found in the body.” There is LDL cholesterol that is considered to be bad because it stays in the arteries of one’s body, and there is HDL cholesterol, which is good because it moves cholesterol back to one’s liver.
Symptoms
Some symptoms, as mentioned by MedicalNewsToday, include:
Chest pain
Small bumps on skin
Yellow bumps on eyes
Cholesterol in tendons or bones (for Familial Hypercholesterolemia)
If one experiences these symptoms, it is best to go to one’s physician to get examined, and one of the most effective tests for diagnosis are blood analyses that checks the blood cholesterol level. However, to check for Familial Hypercholesterolemia, it is best to take a genetic test since it is inherited.
The image below is from the FH foundation and it depicts a sample of how a genetic test is done, and gives insight on how Familial Hypercholesterolemia is passed down through generations in families.
What causes it?
There tends to be two ways that people can get this condition. The body makes cholesterol on its own from the liver, but one also gets it from food. This source mainly comes from animals, such as dairy and meat. When the body consumes too much of those food sources, it can make the body make more cholesterol, which was mentioned by Dr. Mandel. This can accumulate and eventually lead to Hypercholesterolemia.
Although another way one can get this condition is genetic, and this is called Familial Hypercholesterolemia. It is an inherited condition, and there are mutations from the PCSK9 gene and Apolipoprotein B gene, as mentioned by the American Heart Association. These mutations cause there to be a malfunction because it prevents the body from being able to remove LDL cholesterol from places like the arteries, and can accumulate, and become dangerous overtime.
Risks and Complications
The accumulation of cholesterol can be life threatening. Especially since cholesterol builds up in the arteries and blood vessels, it can make blood flow difficult as the cholesterol builds up, and creates plaque. This makes blood cells have a hard time moving due to the narrow passages, which complicates oxygen efficiently getting to all parts of the body. Eventually, if left untreated, more diagnosis or situations can emerge such as a stroke, or even a heart attack. While this occurs for regular and familial Hypercholesterolemia, there is one aspect that is specific to Familial. In Familial, there is plaque, or cholesterol build up, in other parts of the body such as tissues or tendons.
How to care or seek treatment?
Therefore, it is important that one seeks treatment. The most effective way to combat both forms of Hypercholesterolemia is through regular exercise. This can include walking regularly, or also going to run a couple times a week. Another effective treatment includes watching what one eats, and since this is high cholesterol, the best way to combat this is through reducing one’s intake of fat, and including more fiber. To add on to Familial Hypercholesterolemia, medication is needed, and this can vary depending on one’s age, health, and personal life. Although, as mentioned from Myocinic, these are some of the common forms of medication:
Statins: medication that blocks the liver from making more cholesterol
Bile-acid-binding resins: Bind to bile acid in order to make the liver use cholesterol.
Cholesterol Absorption Inhibitors: Limits absorption of cholesterol from food.
Combination cholesterol absorption inhibitor and statin: Limit cholesterol being absorbed
Injectable medications: Help liver absorb LDL cholesterol - this is used mainly for Familial Hypercholesterolemia
Sources
Mandal, Dr. Ananya. “What Is Hypercholesterolemia?” News, 27 Feb. 2019, www.news-medical.net/health/What-is-Hypercholesterolemia.aspx.
“Medical Definition of Hypercholesterolemia.” MedicineNet, MedicineNet, 29 Mar. 2021, www.medicinenet.com/hypercholesterolemia/definition.htm.
“What Is Familial Hypercholesterolemia.” The FH Foundation, 26 May 2021, thefhfoundation.org/familial-hypercholesterolemia/what-is-familial-hypercholesterolemia.
“High Cholesterol (Hypercholesterolemia) Guide: Causes, Symptoms and Treatment Options.” Drugs.com, www.drugs.com/health-guide/high-cholesterol-hypercholesterolemia.html.
“Pure Hypercholesterolemia: Causes, Symptoms, and Treatment.” Medical News Today, MediLexicon International, www.medicalnewstoday.com/articles/316173.
Manoylov, MK. “Is High Cholesterol Genetic? What Is Familial Hypercholesterolemia.” Insider, Insider, 27 Aug. 2020, www.insider.com/is-high-cholesterol-genetic.
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