What is hypercholesterolemia, when your body has extremely high LDL levels due to…?

High cholesterol levels lead to plaque formation in arteries that restrict blood and oxygen flow. Familial hypercholesterolemia is a health condition where genetics are major contributor.

Written by: Jigyasa Sahay

Published: January 25, 2025, 3:23 PM IST

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High cholesterol (LDL) levels are bad for the heart (Freepik)

Cholesterol control is a part of everyday conversation. High cholesterol low cholesterol, bad cholesterol, good cholesterol. The sedentary lifestyle affects this waxy build up leading to serious health issues. Cholesterol is an important component of cell membrane which helps in production of hormones in our body and produces when food containing fats and oils are digested.

Cholesterol is majorly of two types: LDL (low density lipoprotein) which is known as bad cholesterol and HDL (high density lipoprotein) which is known as good cholesterol. LDL usually sticks to the arteries which causes narrowing of arteries leading to heart diseases whereas HDL helps to keep the LDL levels in check.

Cholesterol levels are influenced by various factors, including diet, lifestyle and genetics. But did you know that genes also affect cholesterol? Certain genes, such as LDLR, APOB, and PCSK9, influence cholesterol metabolism and involved in regulation of LDL cholesterol. Variants in these genes can affect how the body handles cholesterol, leading to higher LDL levels. This condition is known as Familial Hypercholesterolemia (FH), it is a genetic disorder that leads to abnormally high levels of low-density lipoprotein (LDL) cholesterol in blood and significantly increases the risk of early heart disease and stroke.

All About Familial Hypercholesterolemia

If one of the parents has FH, there are 50% chances that the child would also have the similar disease, Dr. Naveen Bhamri, Senior Director & HOD, Interventional Cardiology, Max Super Speciality Hospital, Shalimar Bagh, explained while speaking exclusively with India.com. It is one of the most common genetic disorders but often remain undiagnosed until any symptom or complication occurs, early symptoms include:

• High LDL cholesterol levels
• Swollen or painful tendons
• Fatty deposits in skin, especially on the hands, feet, elbows, or knees
• A grayish-white ring around the cornea
• Cholesterol deposits in eyelids

One must undergo lipid profile testing and genetic testing if any above symptoms occur or if someone in family has early heart disease or sudden cardiac events.

For most individuals with FH, lifestyle changes alone are not sufficient. Medication is important to maintain cholesterol levels and prevent early heart diseases.

Prevention Tips For  Familial Hypercholesterolemia (FH)

• Have a heart healthy diet that includes fruits, vegetables, whole grains, and lean proteins. Limit saturated fats (found in red meat and full-fat dairy) and avoid trans fats, instead include heart-healthy fats, such as those from nuts, seeds, and fatty fish (rich in omega-3 fatty acids)
• Do regular exercise and aim for at least 150 minutes of moderate-intensity aerobic activity per week, Dr Bhamri advises. Exercise helps improve cholesterol profiles and overall heart health.
• Avoid smoking as it exacerbates the risk of cardiovascular diseases.
• Manage healthy weight to reduce strain on the cardiovascular system

For most individuals with FH, lifestyle changes alone are not sufficient. Medication is a cornerstone of treatment as it will help to reduce LDL cholesterol production in the liver, decrease cholesterol absorption from the digestive tract, enhance cholesterol clearance from the bloodstream and bind bile acids in the intestine to promote cholesterol excretion.

Do regular monitoring of lipid profile testing to ensure treatment effectiveness and cardiovascular assessments for early detection of heart disease risk factors. Proper consultation, medication and lifestyle habits combined can help manage cholesterol.