Child–Parent Familial Hypercholesterolemia Screening in Primary Care
Authors' conclusion
Child-parent screening was feasible in primary care practices at routine child immunization visits. For every 1000 children screened, 8 persons (4 children and 4 parents) were identified as having positive screening results for familial hypercholesterolemia and were consequently at high risk for cardiovascular disease.
Study context
- Population
- Children 1 to 2 years of age at routine immunization visits in primary care, and their parents
- Participants
- 10,095 children
- Outcome
- Positive screening result for familial hypercholesterolemia (elevated cholesterol plus FH mutation or repeat elevated cholesterol 3 months later)
Methodological detailsprimary care practices, routine child immunization visits
- Primary care practices
- Routine child immunization visits
Main finding
As reported in the abstract
Positive FH screening result (cutoff 1.53 MoM, 99.2nd percentile)
Children with positive screening result
28
0.3%; 95% CI 0.2 to 0.4
With FH mutation
20
With repeat cholesterol ≥1.53 multiples of the median (MoM)
8
Further findings
FH mutation with cholesterol <1.53 MoM
- Children with mutation below cutoff
- 17
Overall FH mutation prevalence
- Prevalence
- 1 in 273 (37 in 10,095; 95% CI 1 in 198 to 1 in 388)
Positive FH screening result (initial cutoff 1.35 MoM plus mutation, or two values ≥1.50 MoM)
- Children with positive screening result
- 40 (0.4%)
- With FH mutation
- 32
- Without mutation
- 8
- Parents with positive screening result
- 40
Original publication
Child–Parent Familial Hypercholesterolemia Screening in Primary Care. N Engl J Med. Published 27 October 2016. doi:10.
Summarised from the published abstract; every number is checked against it