All newborns must be tested for high cholesterol to detect rare genetic disease that can cause premature death: Experts

Children suffering from an inherited disease called familial hypercholesterolemia (FH) have high levels of cholesterol from birth and are 10 to 13 times more likely to suffer from heart attack


                            All newborns must be tested for high cholesterol to detect rare genetic disease that can cause premature death: Experts

A charity organization has been lobbying to introduce tests for high cholesterol within days of a child's birth.

This plea is of particular relevance to children suffering from an inherited disease called familial hypercholesterolemia (FH), a condition where children have high levels of cholesterol from birth, making them susceptible to cardiovascular diseases and early death.

Children with FH inherit faulty genes from their parents. The disease affects 1 in 250 to 1 in 200 people globally, affecting 3.6 to 4.5 million individuals in Europe. Children born with this condition don't have the ability to breakdown cholesterol, resulting in buildup of excess cholesterol in the bloodstream to an extent that it can clog blood vessels, resulting in heart ailments.

These children have high levels of bad cholesterol or Low Density Lipoprotein. It is estimated that patients with FH are 10 to 13 times more likely to suffer from heart attack when compared to those without the condition. FH is considered underdiagnosed and undertreated. 

Given the gravity of the condition, Heart UK is trying to prevent premature deaths in children. To do this, they want newborns to be tested for cholesterol levels during the ‘heel prick’ test, which screens for a range of potentially serious disorders including cystic fibrosis and thyroid disease. Heart UK wants the cholesterol test to be carried out at the same time, or when children receive the MMR jab at 11 months.

"The damage caused to arteries from cholesterol begins immediately, so early treatment is essential," said Liz Hughes, a heart disease specialist involved in the campaign, as reported by MailOnline.

David Wald, an interventional cardiologist at the Wolfson Institute of Preventive Medicine, advocates testing year-old youngsters to make sure the one person in 250 with familial hypercholesterolaemia is identified and treated as early as possible.

"Screening is simple, mainly based on high levels of LDL cholesterol and history of early coronary artery disease (personal and/or family). Diagnosis can be confirmed by a genetic test, which is available in most European countries," said Marianne Zeller of the University of Burgundy—Franche-Comté, Dijon, France in a press statement.

Hughes told MailOnline, "Many people are unaware of their high cholesterol for years as it’s often symptomless. In the meantime, heart damage builds up, and other family members may be unknowingly affected too." Treating such conditions is possible: doctors prescribe statins, which can lower the amount of cholesterol produced.

"At present, even with treatment, FH shortens life expectancy by about 20 years. Testing children and starting treatment earlier could spare thousands of unnecessary deaths," as reported by MailOnline.

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