A new study published online in the Lancet suggests that one of the main screening plans that relies on genetic tests will fail to identify a substantial portion of people with familial hypercholesterolemia.
Investigators from the UK and Belgium analyzed DNA from several cohorts of FH and non-FH patients. Their chief finding was that a large percentage of FH patients did not have one of the single genetic mutations known to cause FH. Instead, these patients, termed “polygenic,” were found to have variants in multiple genes, each of which had a small LDL-raising effect, but when combined resulted in LDL levels similar to those in people with known FH mutations.
According to one cholesterol expert:
The take home is that genetic screening is not a panacea and that screening based on fasting ipids makes most sense. Indeed, I never understood genetic screening for this disease anyway, since the phenotype (hypercholesterolemia) is what kills people, not the genotype, the phenotype is readily available with a blood test, the disease is not immediately fatal (It takes years to develop), and treatment is based on the numbers. It is like asking for a gene test fro sickle cell anemia. You can look at blood and make the diagnosis.