Family history fails to identify many children with severe hypercholesterolemia
T. J. Starc, P. F. Belamarich, S. Shea, B. E. Dobrin-Seckler, R. B. Dell, W. M. Gersony and R. J. Deckelbaum
Department of Pediatrics, Columbia University, College of Physicians and Surgeons, New York, NY.
Optimal strategies for identifying children with hypercholesterolemia have
not been established. Several groups have advocated that testing of serum
cholesterol levels be limited to those children who have family histories
of hyperlipidemia or premature coronary heart disease. We studied the
ability of comprehensive family histories to identify children with
hyperlipidemia in a group of 114 children (mean age, 8 +/- 4 years) who
were referred for treatment of hypercholesterolemia. A positive family
history was defined according to guidelines of the American Academy of
Pediatrics. The mean fasting total cholesterol in the children was 5.74 +/-
1.42 mmol/L (222 mg/dL). Family history was negative for
hypercholesterolemia or premature coronary heart disease in 22 (22%) of 100
children with total cholesterol levels greater than the 75th percentile for
their ages, in 13 (18.3%) of 71 children with total cholesterol levels
greater than the 95th percentile for their ages, and in four (11.8%) of 34
children with presumed heterozygous familial hypercholesterolemia. Of the
78 children who had both hypercholesterolemia and positive family
histories, hyperlipidemia was reported in 72 families, whereas premature
heart disease was reported in only 27. We conclude that in a population of
children referred because of known hypercholesterolemia, a detailed family
history not only fails to identify many children with mild
hypercholesterolemia, but also fails to identify a significant proportion
of children with markedly elevated cholesterol levels. Additionally, in
families of children with hypercholesterolemia, a history of hyperlipidemia
is more common than a history of premature heart disease.
