- QMUL Wolfson
Institute of Preventive Medicine study finds newborn screening will aid in
detecting familial hypercholesterolemia early.
treatment strategies will lower risk of heart attack among adults below 40
- 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
. 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
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.
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.
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.
‘Mandatory newborn screening for familial hypercholesterolemia will lower heart attack risk.’
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."
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.
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
will aid in preventing heart attacks that occur
in people below the age of 40 years, resulting in sudden trauma for the entire
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.
- Prevalence of hypercholesterolaemia among adults aged over 30 years in a rural area of north Kerala, India; a cross sectional study - (http://www.searo.who.int/publications/journals/seajph/issues/seajphv5n1p70.pdf)
- Familial hypercholesterolemia - (https://medlineplus.gov/ency/article/000392.htm)