Atherosclerosis is a degenerative process which begins in paediatric age and whose relationship with hyperlipemia is demonstrated. Prognosis is strictly related to precocious diagnosis, because therapy is based firstly on life style and diet. Aim of the study is to evaluate the biochemical expression of genetic dislipemias in paediatrics. Methods: we have studied 337 subjects belonging to 51 affected families. Lipoprotein profile was tested in 89 children and 248 adults; the average of the children examined was 8.3 +/- 5.3 ages. Total cholesterol (TC), HDL cholesterol (HDL-C) and triglycerides (Tg) analysis were performed by enzymatic methods (kit Boeringher-La Roche); TC and Tg were considered pathological if more than 90° percentile. BMI evaluation was referred to percentile distribution. Results: 69 children (20.4%) and 154 adults (46%) were affected by a genetic form of dislipemia; the other 114 subjects, 20 of which were children, present normal lipid levels. No one results obese. We distinguished the following diseases among paediatric patients: familial combined hyperlipemia (FCHL) in 35 of them, familial hypercholesterolemia (FH) in 25, lipoprotein lipase defect (LPLD) in 4, familial hypertriglyceridemia (FHL) in 3 and ipoalphalipoproteinemia in 2. The average levels of TC (mg%) resulted: FH=294+/-42, FCHL=226+/-61, LPLD=198+/-48, FHL=157+/-35, controls=162+/-30; for Tg (mg%) were: LPLD=650, FHL=122+/-57, FCHL=111+/-80, FH=67+/-28, controls=73+/-22. Ipoalphalipoproteinemic patients presented average TC=175mg% and HDL-C=16mg%. Conclusion: biochemical expression of genetic dislipemias is demonstrated in childhood, even for diseases typical of adults, like FHL and FCHL. Consequently lipoprotein profile should be tested in all children belonging to families affected by these disorders.
Selective screening of genetic dislipemias in Italian children.
BONDONE, claudia;GUARDAMAGNA, Ornella
2002-01-01
Abstract
Atherosclerosis is a degenerative process which begins in paediatric age and whose relationship with hyperlipemia is demonstrated. Prognosis is strictly related to precocious diagnosis, because therapy is based firstly on life style and diet. Aim of the study is to evaluate the biochemical expression of genetic dislipemias in paediatrics. Methods: we have studied 337 subjects belonging to 51 affected families. Lipoprotein profile was tested in 89 children and 248 adults; the average of the children examined was 8.3 +/- 5.3 ages. Total cholesterol (TC), HDL cholesterol (HDL-C) and triglycerides (Tg) analysis were performed by enzymatic methods (kit Boeringher-La Roche); TC and Tg were considered pathological if more than 90° percentile. BMI evaluation was referred to percentile distribution. Results: 69 children (20.4%) and 154 adults (46%) were affected by a genetic form of dislipemia; the other 114 subjects, 20 of which were children, present normal lipid levels. No one results obese. We distinguished the following diseases among paediatric patients: familial combined hyperlipemia (FCHL) in 35 of them, familial hypercholesterolemia (FH) in 25, lipoprotein lipase defect (LPLD) in 4, familial hypertriglyceridemia (FHL) in 3 and ipoalphalipoproteinemia in 2. The average levels of TC (mg%) resulted: FH=294+/-42, FCHL=226+/-61, LPLD=198+/-48, FHL=157+/-35, controls=162+/-30; for Tg (mg%) were: LPLD=650, FHL=122+/-57, FCHL=111+/-80, FH=67+/-28, controls=73+/-22. Ipoalphalipoproteinemic patients presented average TC=175mg% and HDL-C=16mg%. Conclusion: biochemical expression of genetic dislipemias is demonstrated in childhood, even for diseases typical of adults, like FHL and FCHL. Consequently lipoprotein profile should be tested in all children belonging to families affected by these disorders.
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