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Prospective study of serum cholesterol levels during first year of life
Insights
Serum cholesterol levels in cord blood are not reliable for diagnosing familial hypercholesterolaemia in infants. Diagnosis is best deferred until one year of age when diet is established.
Area of Science:
- Pediatrics
- Biochemistry
- Genetics
Background:
- Familial hypercholesterolaemia (FH) is a genetic disorder characterized by high cholesterol levels.
- Early diagnosis of FH is crucial for timely intervention and management.
- Cord blood cholesterol levels are often considered for early screening.
Purpose of the Study:
- To evaluate the utility of cord blood serum cholesterol as a screening tool for familial hypercholesterolaemia in infants.
- To assess the changes in serum cholesterol concentrations during the first year of life in healthy infants.
Main Methods:
- A longitudinal prospective study was conducted on 302 healthy infants.
- Serum cholesterol concentrations were measured at birth (cord blood) and at multiple time points up to one year of age.
- Infants were monitored for the development of familial hypercholesterolaemia.
Main Results:
- Cord blood serum cholesterol estimations were found to be unreliable for diagnosing familial hypercholesterolaemia.
- The single infant diagnosed with FH had a cord serum cholesterol level within the higher end of the normal range.
- Serum cholesterol levels in infants were significantly influenced by diet, particularly milk type.
Conclusions:
- Cord blood cholesterol levels are not a suitable screening method for familial hypercholesterolaemia.
- Diagnostic investigations for familial hypercholesterolaemia should be postponed until approximately one year of age.
- Established feeding patterns, including cow's milk and a mixed diet, provide a more reliable baseline for cholesterol assessment.
Abstract:
A longitudinal prospective study of serum cholesterol concentrations during the first year of life has been carried out in 302 healthy babies. The results show that serum cholesterol estimations in cord blood cannot be used as a screening test for the diagnosis of familial hypercholesterolaemia. The only child subsequently found to have the condition had a cord serum cholesterol of 85 mg/100 ml compared with the mean value for the group of 78 mg/100 ml. The babies who had cord values greater than 100 mg/100 ml had values distributed throughout the normal range when re-examined at 1 year of age. Serum cholesterol concentrations during the early months of life were markedly influenced by the type of milk fed; it is suggested that investigations to establish the diagnosis of familial hypercholesterolaemia are deferred until the child is about 1 year old and feeding with cows' milk and mixed diet is established.Values obtained for serum cholesterol concentrations (mg/100 ml, mean +/- 1 S.D.) in healthy infants in this study were: at birth 78 +/- 23, at 1 week 155 +/- 31, at 6 weeks 155 +/- 31, at 4 months 184 +/- 36, at 8 months 195 +/- 37, and at 1 year 191 +/- 36.