Familial Hypercholesterolemia Screening in Primary Care

Study Questions:

Is child–parent screening for familial hypercholesterolemia (FH) efficacious and feasible in primary care clinics?


Capillary blood samples were collected for cholesterol measurement and to test for FH mutations in children (of consenting parents) who were between the ages of 1-2 years during routine immunization visits. Children were considered to have positive screening results for FH if their cholesterol level was elevated and they had either a FH mutation or a repeat elevated cholesterol level 3 months later. A parent of each child with a positive screening result for FH was considered to have a positive screening result for FH if he or she had the same mutation as the child or, if no mutations were identified, had the higher cholesterol level of the two parents.


Parents of 13,097 children (approximately 13 months of age) were asked to consider having their children participate in FH screening, which would take place at the time of the child’s immunization between March 2012 and March 2015 at 92 general medical practices in the United Kingdom. A total of 11,010 parents (84%) agreed to their children’s participation in the screening study. Prespecified cholesterol cutoff values of 1.53 multiples of the median (MoM; corresponding to a percentile of 99.2) were used. Using these cutoffs, 28 children had positive screening results for FH (0.3% of the 10,095 children; 95% confidence interval [CI], 0.2-0.4), including 20 with a FH mutation and eight with a repeat cholesterol level of ≥1.53 MoM. A total of 17 children who had a cholesterol level of <1.53 MoM also had a FH mutation. The overall mutation prevalence was 1 in 273 children (37 in 10,095; 95% CI, 1 in 198 to 1 in 388). The use of an initial cholesterol cutoff value of 1.35 MoM (95th percentile) plus a mutation, or two cholesterol values of ≥1.50 MoM (99th percentile), identified 40 children who had positive screening results for FH (0.4% of the 10,095 children, including 32 children who had a FH mutation and eight who did not have the mutation), and 40 parents who had positive screening results for FH.


The investigators concluded that child–parent screening was feasible in primary care practices at routine child immunization visits. For every 1,000 children screened, eight persons (four children and four parents) were identified as having positive screening results for FH and were consequently at high risk for cardiovascular disease.


These studies suggest that screening for FH is feasible within the primary care clinic. Further research is required to understand the cost implication of such widespread screening. Given the low cost of lipid measurement, such screening may in fact be cost-effective.

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