• Genetic condition affects 1 in 140 in Singapore; 90 per cent remain undiagnosed or undertreated
• Critical to identify 4,000 children with undiagnosed FH
• Early detection in childhood can benefit children and family members
  

20 May 2024, Singapore - KK Women's and Children's Hospital (KKH) opens the KKH Children's Lipid Centre (Centre), Singapore's first dedicated clinic for the management of familial hypercholesterolemia (FH) in children.

Part of the Metabolic Health Programme, under the KKH-led MCHRI¹, the Centre will proactively identify and manage FH in early childhood. The prevalence of FH in Singapore is around 1 in 140² or over 35,000 persons, including 4,000 children and adolescents. Yet over 90 per cent of FH cases in Singapore remain undiagnosed or do not receive timely treatment, especially in children and adolescents.

FH is an inherited disorder. Due to mutations in genes involved in the metabolism of cholesterol, the affected child is born with dyslipidemia which is characterised by very high levels of low-density lipoprotein cholesterol (LDL-C), commonly known as ‘bad cholesterol’. This leads to the development of atherosclerosis, a buildup of fatty deposits that causes blockages and narrowing of the blood vessels, and subsequently, cardiovascular diseases.

Professor Fabian Yap, Deputy Director, MCHRI, and Head and Senior Consultant, Endocrinology Service, KKH said, “Unlike Familial hypercholesterolemia (FH) in adults which can be managed by statins and lipid-lowering drugs, FH in childhood can manifest more severely, and require targeted diagnosis and aggressive treatment. Of greater concern is the fact that FH in childhood can also be insidious and stay silent until cholesterol levels are actually measured. Being genetic, FH cannot be addressed by dietary and lifestyle changes alone.

“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 (HoFH), a more severe form of FH which is inherited from both parents.”

Precision population health through screening and early detection
Children with untreated FH usually present with LDL-C levels of over 4.1 mmol/L, and can remain asymptomatic while the silent effects of heart complications from impaired blood vessel linings build up over time. The optimal LDL-C for children aged two to18 years is less than 3.5 mmol/L.

In managing children diagnosed with FH, the Centre will focus on individual characteristics and genomics to administer tailored therapy, at the right time, for each affected child.

In addition, the Centre encourages early screening for at-risk children to limit the risks of lifelong cholesterol build-up and related diseases. They include children whose immediate family members have FH, or a history of developing cardiovascular disease earlier in life. For women, it would be before 65 years, and for men, before 55 years.

Importantly, a child’s diagnosis can often lead to identifying and treating an affected parent or family members.

FH in adulthood carries a 50 per cent chance of the condition being passed down to the next generation.

“Individuals with FH are potential time bombs, unaware of their condition until it manifests into serious health issues. For those affected by dyslipidemia, this can be addressed with early screening and intervention. These are also the first steps toward realising a future of a population free from cardiovascular disease,” added Professor Yap.

The KKH Children’s Lipid Centre is expected to screen and manage around 120 children annually. To make an appointment for screening, visit Request for Child Lipid Clinic Appointment page or scan this QR Code:

Guidelines for children with non-genetic dyslipidemia
While FH is genetic, there are non-genetic forms of dyslipidemia and notably in lifestyle-linked obesity. According to the NCD Risk Factor Collaboration, Southeast Asia is the new global epicentre of dyslipidemia largely linked to obesity.

In Singapore, obesity is on the rise among school-going children, up from 13 per cent in 2017 to 16 per cent in 2021. The Centre will develop guidelines to support paediatricians and primary healthcare practitioners to manage dyslipidemia in obese children, through lifestyle adaptations with diet, physical activity and healthy choices.

¹SingHealth Duke-NUS Maternal and Child Health Research Institut
²‘Analysis of clinically relevant variants from ancestrally diverse Asian genomes’, Chan SH, SG10K_Heatlh Consortium, et al, Nature Communications (2022).