Health In Focus
  • QMUL Wolfson Institute of Preventive Medicine study finds newborn screening will aid in detecting familial hypercholesterolemia early.
  • Effective treatment strategies will lower risk of heart attack among adults below 40 years.
  • The screening will also identify parents at risk of familial hypercholesterolemia.

Early detection and use of preventive strategies have been found to lower the risk of heart attacks that occur before the age of 40 years in people with familial hypercholesterolemia. The finding by researchers from the QMUL's Wolfson Institute of Preventive Medicine, if utilized by Public Health Services in England and Wales could
  • Prevent 600 heart attacks that occur due to the condition in people below 40 years of age.
Familial hypercholesterolemia is a genetic condition that increases the deposition of cholesterol and can lead to heart attacks at an early age. Since the condition is a silent killer, people with this condition are unaware till the symptoms of heart attack set in.
Screening at Childhood Could Prevent Early Heart Attack

The study involved the screening of 10, 059 children from across 92 medical health facilities across England. The children were tested for the presence of high cholesterol and for the genes associated with familial hypercholesterolemia
  • The genes for familial hypercholesterolemia were found in 1 in 270
  • 40 children were found to be FH positive.

Child-Parent Screening

Familial hypercholesterolemia is an inherited disorder so if a child is detected with the condition, then one or both the parents may be affected with the condition. Therefore, screening the child will result in a child-parent screening.

Professor David Wald who is the principle researcher of the study stated "This is the first demonstration that child-parent screening works on a large scale. It's the only screening method that stands a reasonable chance of covering the whole population and identifying those at highest risk of an early heart attack. Now that we've demonstrated this as being effective across England, the next step is for public health agencies to consider offering this routinely at the time of childhood vaccination to test all children aged 1-2 years."

Early Preventive Action

The screening of children and the detection of the condition will also signal the need for parents of the child to be tested. In the study it was found that for every 125 people tested, one person was at a high risk of a heart attack. This saved the individual from the trauma of a heart attack as preventive medical support was soon initiated. This method of testing will greatly benefit individuals with familial hypercholesterolemia.

Symptoms of Familial Hypercholesterolemia

Initially there were no symptoms of the condition. However, as the disease progresses, the following symptoms may be identified.
  • There will be fatty deposits on the hands, knees, elbows and around the cornea of the eye called xanthomas.
  • There will be deposits of cholesterol in the eyelids called xanthelasmas
  • Cramping could occur in one or both the calves while walking.
  • There may be sores on the toes that do not heal.
Proactive detection and treatment of familial hypercholesterolemia will aid in preventing heart attacks that occur in people below the age of 40 years, resulting in sudden trauma for the entire family.

This study proves conclusively that genetic testing could be used to screen babies, and thereby adults as well, for the presence of risk for the condition. Though there are no specific statistics available for India, a study in a rural region in North Kerala found that 63.8% tested positive for the presence of familial hypercholesterolemia in that particular community. There is widespread system of marrying within closely related individuals in India, therefore the risk of familial hypercholesterolemia could be significantly higher.

References :
  1. Prevalence of hypercholesterolaemia among adults aged over 30 years in a rural area of north Kerala, India; a cross sectional study - (
  2. Familial hypercholesterolemia - (
Source: Medindia

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