Familial Hypercholesterolaemia (FH) or Hereditary hyperlipidemia It is a condition caused by a genetic abnormality that causes the body to have bad cholesterol (LDL-C) tall since birth, different from normal people who usually have high fat from eating habits or lifestyle. This abnormality makes people at risk for heart disease and blood vessels faster than normal people. Some people may have heart attacks or strokes before the age of 50. Information from FH Foundation It was found that this disease occurs approximately 1 in 250 people worldwide But more than 90% doesn't know he has FH. Therefore, we miss the opportunity for early treatment and prevention.

Genetic mechanisms

In FH patients, even with diet control or exercise, cholesterol levels remain higher than normal because The liver cannot remove LDL-C (bad cholesterol). Go all out

Report from US CDC It points out that if left untreated, FH patients are at higher risk of heart disease than the general population. 22 times

Genetic transmission

This disease is transmitted in a Autosomal dominant This means that if one father or mother has FH, each child has a chance. 50% To get the abnormal gene and become a patient as well.

example

• If the father is FH but the mother is normal, half of the children have a chance of being FH.

• If both parents have FH, the child may receive the abnormal gene from both parents and become Homozygous FH which is highly severe and may cause heart disease from childhood

Types of genetic hyperlipidemia

Hereditary hyperlipidemia is divided into two main types:

• Heterozygous FH (HeFH): Obtained abnormal genes from one parent only, occurring in approximately 1:250–1:500 people. Patients in this group often begin to be at risk for heart disease before the age of 50–60 years if left untreated.
• Homozygous FH (HoFH): Obtained abnormal genes from both parents. Very rare (1:30,000–1:100,000 people) but highly severe, increasing the risk of acute heart disease from childhood.

It can be seen that Even just inheriting an abnormal gene from one parent is enough to cause the disease.So it is not as far away as many people think.

Warning signs to watch out for

Why is this condition dangerous to the heart and blood vessels?

In those who have Hereditary hyperlipidemia (FH) Cholesterol levels are high from birth, causing fat to accumulate in the artery walls faster than in normal people. As time passes, the blood vessels Narrow, hard and blocked Easy to get

The result is that the heart and brain may not receive enough blood, leading to serious diseases such as: Coronary heart disease, chest pain, acute heart attack, or stroke Available from a young ageIn addition, research from the Journal of Atherosclerosis and Thrombosis (2022) also found that small dense LDL (sdLDL) It is a type of fat that is highly dangerous because it makes the accumulation of fat in the blood vessels easier and more severe, especially in FH patients who have had high LDL-C since birth.

Methods of examination and diagnosis

Diagnosis Hereditary hyperlipidemia (FH) It depends on many factors, not just looking at cholesterol numbers.

• Commonly used diagnostic criteria
  
  • Dutch Lipid Clinic Network (DLCN): Assessed based on LDL-C levels, symptoms, and family history.
  • Simon Broome (UK): Use lipid levels in conjunction with genetic testing.
    
• Tests that doctors often use together
  
  • Blood test: If the LDL-C value is higher than 190 mg/dL, especially in young people, FH should be suspected.
  • Check family history: If a close relative has premature heart disease
  • Advanced Lipid Profile: Analyze the types of LDL, especially small dense LDL.
  • Genetic Test: Confirmed gene mutations such as LDLR, APOB, PCSK9.

A study from the Texas Heart Institute Journal (2010) also found that while statins can reduce total cholesterol (LDL-C) and ApoB, they cannot reduce the proportion of small dense LDL (sdLDL) Which is a type that is at risk for hardening of the arteries.

Therefore, the latest guidelines (StatPearls, Vaezi, 2024) Therefore, it is recommended that patients at risk undergo examination. Advanced Lipid Profile Combined with genetic testing to more accurately assess risk

Holistic treatment and care

Although FH cannot be cured, it can be controlled and the risk of heart disease can be reduced with proper care. Effective treatment often involves a combination of two approaches:

Care and follow-up at W9 Wellness Center

At W9 Wellness Center, we don't just stop at treatment, but focus on holistic long-term care to support cardiovascular health, such as:

• Heavy Metal Detoxification (Chelation Therapy) : Helps reduce the load on blood vessels and supports the functioning of the circulatory system.
• Vitamin & Antioxidant IV Therapy : Supplement nutrients that help reduce inflammation and protect blood vessels from free radicals.
• Personalized Wellness Follow-Up : Plan to repeat LDL-C, sdLDL, hs-CRP tests and tailor the treatment plan to each individual.
• Advanced Lipid Profile : Accurate and comprehensive examination for accurate diagnosis and care.

Who should undergo an Advanced Lipid Profile test?

• Young people with abnormally high cholesterol
• People who have a close relative who had heart disease at a young age
• People who have had a health check and their LDL-C is still high despite diet and exercise.
• Couples planning to have children should undergo genetic testing to reduce their risk.

summarize

Familial Hypercholesterolaemia (FH) It is a genetic hyperlipidemia that increases the risk of cardiovascular disease from a young age. Early detection and continued care can greatly reduce complications.

Research confirms that medication alone may not be enough without examining the type of fat in depth. sdLDL Therefore, comprehensive FH care is essential. Accurate testing, medication use, and holistic care It is the key to protecting your heart.

Don't let genetics dictate your heart.
If you or someone in your family is at risk for this condition, get tested. Advanced Lipid Profile And care from a team of expert doctors at W9 Wellness Center will help you know ahead of time, prevent it, and keep your heart healthy in the long run.

Phramongkutklao Hospital (3rd floor, Building A)

• Phone number: 092-9936922
• Line: @w9wellness
• Opening-closing hours: 08.00 – 17.00 hrs.

References

1. FH Foundation. About Familial Hypercholesterolemia (FH)
2. Superko HR, King S. Statins Do Not Decrease Small, Dense Low-Density Lipoprotein. Tex Heart Inst J. 2010;37(4):421–428. PubMed PMID:20844614
3. Journal of Atherosclerosis and Thrombosis (Advance Publication, 2022). Small Dense LDL and Atherosclerosis
4. Nawaka S. Familial Hypercholesterolemia Management. Postgrad Med. 2023;135(4).
5. Vaezi M. Familial Hypercholesterolemia. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan.