This can be due to abnormally high levels of cholesterol or triglycerides, or elevated levels of both. High levels of blood lipids can cause hardening, narrowing and blockage of the arteries, which is a major risk factor for heart disease.
High levels of blood lipids can be caused by a variety of factors, including:
External Factors
- Obesity or being overweight
- Lack of regular exercise
- Drinking alcohol or smoking on a regular basis
- Eating foods high in fat and cholesterol
Internal Factors
- Genetics
- Thyroid disease, diabetes, kidney disease and certain medications
Familial hypercholesterolemia (FH) is a common genetic disorder caused by the creation of an abnormal gene or by mutations in the LDL-R, ApoB and PCSK-9 genes, resulting in high levels of cholesterol in the blood. This means the LDL-C remaining in the blood, which is the bad cholesterol, can deposit itself in the arteries, causing coronary artery disease, acute heart attack and stroke.
Additionally, familial hypercholesterolemia can cause another condition that can be observed by patients themselves. It’s called xanthomas and can appear when cholesterol-rich deposits appear as lumps or nodules under the skin and in the tendons or joints.
Familial hypercholesterolemia is caused by two types of mutations:
- Heterozygous FHis a monogenic disorder which can be inherited from either parent. The total cholesterol concentration in heterozygous FH patients typically ranges from 350 to 550 mg/dL.
- Homozygous FHis present when the FH gene is inherited from both parents. It is a much more severe form of the disorder than heterozygous FH. Patients who are homozygous are generally in the range of 650 to 1000 mg/dL, causing a high risk of acute heart disease and much shorter life expectancy than normal.
Symptoms
The most severe symptom is, of course, acute heart failure and death. However, the risk can be reduced by lowering your fat intake, which decreases the risk of heart attack significantly.
Diagnosis and treatment
If you think you may be at risk, and particularly if you also have high levels of cholesterol in the blood and have taken cholesterol-lowering medications to no effect, you can undergo genetic testing to see whether you have inherited the gene from your family. After the test you can receive more specific medications and treatment. If you take your medications as prescribed and make lifestyle and diet changes as recommended by your physician, you can greatly reduce the risk of acute heart attack and stroke.
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