Child–Parent Familial Hypercholesterolemia Screening in Primary Care

TLDR: Child-parent screening was feasible in primary care practices at routine child immunization visits and 8 persons were identified as having positive screening results for familial hypercholesterolemia and were consequently at high risk for cardiovascular disease.

Abstract: BackgroundChild–parent screening for familial hypercholesterolemia has been proposed to identify persons at high risk for inherited premature cardiovascular disease. We assessed the efficacy and feasibility of such screening in primary care practice. MethodsWe obtained capillary blood samples to measure cholesterol levels and to test for familial hypercholesterolemia mutations in 10,095 children 1 to 2 years of age during routine immunization visits. Children were considered to have positive screening results for familial hypercholesterolemia if their cholesterol level was elevated and they had either a familial hypercholesterolemia mutation or a repeat elevated cholesterol level 3 months later. A parent of each child with a positive screening result for familial hypercholesterolemia was considered to have a positive screening result for familial hypercholesterolemia 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. Re...