Familial hypercholesterolemia (FH), a genetic disorder affecting cholesterol metabolism, is more common in Singapore than many realise. In Singapore, over 35,000 people are affected by FH, of which 4,000 are children and adolescents. Alarmingly, over 90 per cent of such cases remain undiagnosed or untreated. To address this issue, the KK Women’s and Children’s Hospital (KKH) has opened the KKH Children’s Lipid Centre, Singapore’s first dedicated clinic for the management of FH in children.
KKH is a forerunner in addressing childhood FH; it adopts a proactive approach to early screening and specialised treatment. Professor Fabian Yap, Deputy Director, SingHealth Duke-NUS Maternal and Child Health Research Institute (MCHRI), and Head and Senior Consultant, Endocrinology Service, KKH, emphasised the importance of early detection: “As the risk of atherosclerosis (the accumulation of fats, cholesterol and other substances in and on the artery walls) is cumulative and starts early in life, early detection for children at risk of this genetic condition is crucial.”
FH is an inherited disorder. Due to mutations in genes involved in the metabolism of cholesterol, an affected child can be born with dyslipidaemia, a condition characterised by very high levels of low-density lipoprotein (LDL) cholesterol, commonly known as ‘bad cholesterol’. This leads to the development of atherosclerosis and, subsequently, cardiovascular diseases.
Unlike FH in adults, which can often be adequately managed by statins and lipid-lowering drugs, FH in childhood may present with greater severity and requires specialised diagnosis and aggressive treatment, explained Prof Yap. “An even greater concern is that FH in children can be insidious and go unnoticed until cholesterol levels are specifically measured,” he said.
Early screening is crucial
The Centre emphasises early screening for at-risk children, particularly those with immediate family members known to have FH, or have a family history of early vascular disease (heart attacks or strokes before 65 in women or 55 in men).
Children with untreated FH often have LDL cholesterol levels over 4.1 mmol/L, even though they may not show any symptoms. For children aged two to 18 years, an optimal LDL level is below 3.5 mmol/L.
The risks of ignoring this condition are significant. “Individuals with FH who are unaware of their condition can develop serious health issues,” Prof Yap warned. Damage to blood vessels can quietly build up over time, increasing the risk of heart problems. “As the risk of atherosclerosis is cumulative and starts early in life, early detection for children at risk of this genetic condition is crucial. For instance, the first two years of life is key to the diagnosis of Homozygous FH, a more severe form of FH that is inherited from both parents,” he added.
SingHealth’s role in precision population health is exemplified through the Centre’s approach. In line with Singapore’s focus on this area, the Centre administers tailored therapy at the right time to each child diagnosed with FH, based on individual characteristics and genomics. This personalised approach ensures that each child receives the most appropriate treatment for their specific condition.
The Centre’s proactive identification and management of FH in early childhood, with an expected annual screening and management of around 120 children, demonstrates KKH’s commitment to address this issue. By encouraging early screening for at-risk children, the Centre aims to limit the risks of lifelong cholesterol build-up and related diseases.
While FH is genetic, there are also nongenetic forms of dyslipidaemia, notably in lifestyle-linked obesity. The Centre also advocates lifestyle adaptations with diet, physical activity, and healthy choices for obese children with dyslipidaemia.
KKH’s pioneering efforts in establishing the Centre represent a significant step forward in addressing childhood FH in Singapore. By emphasising early screening, specialised treatment, and precision health approaches, KKH is leading the way in tackling this often overlooked but potentially serious condition in children.
If you know of a family or child who could benefit from early screening, you can help by booking an appointment through:
https://for.sg/kkh-child-lipid-clinic-appt-request
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