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Contrary to popular belief, cholesterol is essential for our body, necessary for various cellular activities. Produced by the liver, it is released into the bloodstream to be utilized by the cells and tissues. Any excess or remaining cholesterol is then transported back into the liver and expelled. However, the excess cholesterol, especially the low-density lipoprotein variant (LDL), can sometimes remain in the bloodstream due to some anomalies instead of being excreted. This, in turn, can adversely affect several vital organs in the body, including the heart.
While a balanced diet and moderate exercise are the go-to suggestions for keeping cholesterol levels in check, experts point out that genetic predisposition also contributes to the development of high cholesterol levels in individuals. In fact, it’s a common genetically acquired vascular complication that affects one’s heart health, also referred to as familial hypercholesterolemia (FH). “If either parent has this condition, there is a 50% chance of it getting passed on to their children,” adds Dr Arun Kalyanasundaram, chief cardiologist, Promed Hospital, Chennai.
What is familial hypercholesterolemia?
According to experts, FH is a genetic condition where the body is unable to expel bad cholesterol (LDL) from the blood. It leads to increased LDL levels, which increases the risk of heart attacks and strokes even at a young age. Mutations in certain genes responsible for the regulation and removal of cholesterol in the body give rise to this condition. “One of the main genes that’s affected is the LDL receptor gene,” says Dr Jaideep Rajebahadur, consultant, cardiology, SRV Hospitals, Goregaon, Mumbai. This gene plays a major role in the uptake of circulating cholesterol by the cells. For those with the condition, their cells won’t be able to utilize cholesterol effectively. As a result, they will have excessive amounts of cholesterol in their blood.
Dr Nithya Abraham, clinical assistant professor, endocrinology and diabetes, Amrita Hospital, Kochi, says that FH is usually an autosomal dominant disorder. “If an individual is diagnosed with this condition, their children and siblings are at risk of developing it as well. Hence, the entire family needs to be screened, including the direct siblings,” she explains.
Dr Srinivasa Prasad, senior consultant, interventional cardiology, Fortis Hospital, Bangalore, explains that due to high cholesterol levels, people with this condition might be prone to atherosclerosis (thickening of the arteries due to buildup of plaque) or other cholesterol deposition-related vascular disorders like strokes. “It [atherosclerosis] is a serious condition. According to research, 50% of men with FH develop heart attacks by the age of 50, and 30% of women with FH develop the same by 60 years of age on a global scale,” informs Dr Abraham.
Types of familial hypercholesterolemia
According to cardiologists, there are two types of FH, depending on whether the mutated genes have been passed down from one or both parents:
♦ Heterozygous familial hypercholesterolemia (HeFH)
Experts state that this is the most common form of FH and is inherited from one parent. In severe cases, LDL cholesterol levels in the blood can exceed up to 190 milligrams per deciliter (mg/dL). If left untreated, people with HeFH may develop heart conditions in their 30s.
♦ Homozygous familial hypercholesterolemia (HoFH)
This form of FH is rare and is passed down from both parents. It leads to extremely high cholesterol levels, with the blood LDL content rising up to 400 mg/dL. “If not diagnosed and addressed early, people with HoFH may develop heart conditions in the first 10 years of their lives, sometimes as early as two or three years old,” cautions Dr Rajebahadur.
Symptoms of familial hypercholesterolemia
High cholesterol levels have certain manifestations that experts examine for early diagnosis and management. Such signs can appear in the following body parts:
♦ Skin
People with this condition are likely to develop small fatty lumps on their skin, especially on their hands, elbows and knees. This condition is called xanthomas. These outgrowths can occur around the eyes as well (referred to as xanthelasma). While these are sure-shot indicators of high cholesterol levels, the reason for such occurrences – whether it’s FH or just an unhealthy diet and lifestyle – needs to be diagnosed by experts after evaluating one’s medical history.
♦ Tendons
Cholesterol deposits may thicken the Achilles tendon, along with some tendons in the hands. This can limit their flexibility and movement, leading to stiffness, discomfort or pain in the affected area.
♦ Eyes
“High cholesterol levels can cause corneal arcus — a white or gray ring around the iris of the eye,” says Dr Rajebahadur. He adds that while this typically occurs in older people, it can affect the younger ones who have FH.
However, Dr Kalyanasundaram informs that everyone may not present with these telltale symptoms; the best way to confirm the condition is to get a blood test done to check the cholesterol levels.
Measures to keep cholesterol levels in check
“It [FH] is not something that you’re forced to live with, and it can be treated with medication. But the most important precaution is to eat right, exercise and be healthy,” says Dr Kalyanasundaram, adding that people should not hesitate to get screened when necessary.
Dr Prasad shares that a family history of premature death (due to cardiac complications) or coronary artery disease is a sign. In such cases, the whole family must get screened. He adds that early screening and intervention — including lifestyle modifications like a fat-free diet and regular exercise — are the best ways to manage this condition.
“Early diagnosis of this condition will help initiate early treatment, thereby preventing premature cardiovascular events,” says Dr Abraham.
Takeaways
- Familial hypercholesterolemia (FH) is a genetic disorder that causes high levels of LDL cholesterol in the blood. It occurs due to mutations in certain genes responsible for the regulation and removal of cholesterol in the body.
- Symptoms of FH include cholesterol depositions on the skin, tendons and eyes.
- If there is a family history of premature death due to cardiac issues, it’s crucial for the whole family to get screened for the same.
- People, especially those with the condition, must exercise regularly and follow a healthy diet to prevent or manage the condition.
