High cholesterol in children and its consequences

[WORLD] Cholesterol is an essential substance in the human body, vital for building healthy cells, but when levels become elevated, especially the "bad" LDL cholesterol, it can lead to serious health issues. Although high cholesterol is commonly linked to poor dietary choices and lifestyle factors, there are children who are born with naturally high cholesterol levels due to a rare inherited condition. This article delves into familial hypercholesterolemia (FH), a genetic disorder that leads to high cholesterol in children and its potential consequences if left untreated.

Familial hypercholesterolemia is a genetic disorder that causes high levels of low-density lipoprotein (LDL) cholesterol from a young age. This condition results from a mutation in a gene responsible for removing LDL cholesterol from the bloodstream, causing the body to struggle in clearing excess cholesterol. This leads to the accumulation of cholesterol, increasing the risk of developing atherosclerosis, a condition where cholesterol deposits in the walls of arteries, making them narrow and less flexible.

The consequences of FH are serious. When left undiagnosed or untreated, the elevated cholesterol levels can lead to heart attacks and strokes at a young age. In fact, it is estimated that one in every 250 people globally may have FH, though many are unaware of the condition until more severe complications arise. While most people see cholesterol levels rise with age, individuals with FH experience elevated cholesterol levels from birth, with the condition worsening as they grow older.

Early Detection and Symptoms

One of the biggest challenges in addressing FH in children is the difficulty in diagnosing the condition. Dr. Ngu Lock Hock, head of the Genetics Department at Hospital Kuala Lumpur (HKL), explains, "FH is very difficult to pick up and is underdiagnosed because it doesn’t usually cause any symptoms. Even if a child goes for a health check-up, a lipid profile is not part of the investigation, unless there is a strong family history of coronary heart disease. We usually pick up FH by incidental findings."

This is why FH is often discovered incidentally, during tests for other health conditions or when symptoms like fatty deposits appear. In some cases, children with severe FH may develop visible symptoms such as xanthomas, which are fatty lumps that appear under the skin, typically on the elbows, knees, and tendons. Other visible signs include yellowing around the eyes or a white ring around the iris, which can also be indicative of the condition.

Consequences of Uncontrolled FH

The primary concern for children with familial hypercholesterolemia is the long-term effects of untreated high cholesterol. Over time, the excess cholesterol can contribute to the development of atherosclerosis, which can start affecting children as young as ten years old. Atherosclerosis leads to hardened arteries, increasing the risk of heart disease, including heart attacks and strokes, later in life.

In some severe cases, children with untreated FH may experience cardiovascular events as young adults or even in their teenage years. Without intervention, the elevated cholesterol levels continue to build, leading to more extensive damage to the cardiovascular system.

Treatment and Management of FH in Children

The good news is that with early diagnosis and proper management, children with FH can live healthy lives. The treatment primarily involves medication aimed at lowering cholesterol levels, such as statins, which help reduce LDL cholesterol in the bloodstream. In some cases, other medications or even apheresis (a process where blood is filtered to remove cholesterol) may be necessary.

In addition to medication, lifestyle changes play a critical role in managing FH. Encouraging children to maintain a healthy diet, engage in regular physical activity, and avoid smoking and excessive alcohol consumption are essential components of managing the condition. Although lifestyle changes alone may not be sufficient to lower cholesterol to safe levels, they complement medical treatments in helping reduce the risk of cardiovascular disease.

The Importance of Early Screening

Because FH can be difficult to diagnose based solely on symptoms, early screening for cholesterol levels in children is crucial. Routine lipid profiles can help detect elevated cholesterol levels, particularly in children who have a family history of heart disease. Doctors often recommend that children with a family history of FH or heart disease undergo early lipid screening to catch the condition before it causes irreversible damage.

In many countries, however, lipid profiles are not a standard part of a routine pediatric check-up unless there is a known family history of heart disease. This oversight can delay diagnosis and treatment, increasing the risk of long-term cardiovascular damage.

Global and Local Efforts in Raising Awareness

Increasing awareness about familial hypercholesterolemia is key to improving early diagnosis and treatment. Globally, healthcare organizations are working to raise awareness among medical professionals and the public about the importance of early cholesterol screening, especially for children with a family history of heart disease. By educating families and healthcare providers, there is hope that more children will be diagnosed early and receive the necessary treatment to manage the condition.

In Malaysia, experts like Dr. Ngu Lock Hock are advocating for increased awareness and the inclusion of lipid profiling in regular health check-ups. This proactive approach could help identify FH in children before it leads to severe health complications. As Dr. Ngu points out, "We usually pick up FH by incidental findings," emphasizing the need for more comprehensive screening processes.

Familial hypercholesterolemia is a rare but serious condition that can cause high cholesterol levels in children from a very young age. The condition is often difficult to detect early due to the lack of visible symptoms, making it critical for parents and healthcare providers to be vigilant about screening children, particularly those with a family history of heart disease.

If left untreated, FH can lead to early heart disease, including heart attacks and strokes, which can occur in adolescence or early adulthood. However, with early diagnosis and appropriate treatment, children with FH can manage their cholesterol levels and significantly reduce their risk of cardiovascular disease.

Through early detection, regular screening, and appropriate medical intervention, children with familial hypercholesterolemia can lead healthy, fulfilling lives. Raising awareness about the condition, particularly in the medical community, will be essential in ensuring that children with FH are identified early and receive the care they need.