Screening infants for childhood hyper-cholesterol disease
A simple blood test in babies may identify one disease that causes premature heart attacks and death in the early 40s.
Familial hypercholesterolemia (FH) is a genetic disease that results in high LDL (low-density lipoprotein) levels that can cause heart attacks and even death at an early age. It’s most popular form is caused by a single abnormality in chromosome 19, which means it can be inherited from each parent, and the symptoms become more severe if a child gets two copies of the gene - one from each parent.
Children with two copies of the FH gene will develop cholesterol deposits in the skin, tendons and around the cornea of the eye. A hardening of the arteries (artherosclerosis) may develop even before puberty and the risk for heart attack is as early as 30 years of age. Those with only one copy may not develop symptoms that are as severe, but premature heart disease will still be a serious effect.
Why is this disease important? Because 1 in 500 persons worldwide (and in the US) have one copy of the FH gene. Definitely, identifying whether a child has FH will help prevent or treat symptoms as early as possible.
The good news is that now, a recent study revealed a simple blood test is all that’s needed to identify children with familial hypercholesterolemia. The cholesterol test can be done effectively in as young as 15 months of age. Every child identified to have a higher cholesterol level will most likely have at least one parent of the same, and so screening and later on treatment/prevention will benefit both parent(s) and child, suggests the authors.
The paper appeared at the British Medical Journal in its September 14 issue- “Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis“.
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Tags: familial hypercholesterolemia, children, genetics, disease, gene, heart attack, heart disease
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POSTED IN: Diseases and Medical Conditions, Genetic and Metabolic Disorders, Infant Care, Safety and Health
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