Contribution of molecular biology to the diagnosis of familial hypercholesterolemias in children
Tricot-Guerber, F.; Valenti, K.; Lafeuillade, B.; Pradines, S.; Foulon, T.; Bost, M.; Hadjian, A.J.
Archives Francaises de Pediatrie 49(1): 27-32
1992
ISSN/ISBN: 0003-9764 PMID: 1347990 Document Number: 402659
The detection of children at high risk in families with a genetic form of hypercholesterolemia is important for acceptance of prevention under medical control. However, usual lipidic parameters are difficult to interpret during infancy. So we studied by a molecular biology approach 11 families presenting with syndrome of pure hypercholesterolemia where a defect of the LDL receptor (LDL-R) gene was suspected (Familial Hypercholesterolemia: FH IIa). Markers of the LDL-R gene (Restriction Fragment Length Polymorphism RFLP) were studied with intragenic probes. The segregation of the abnormal gene was studied in each family. Our results illustrate the limits of such an approach (its heaviness and the fact that, in 2 families, the analysis was not informative), but also its advantages: indeed, in 8 families, the diagnosis was established (particularly in one case at birth). Moreover in 2 families the LDL-R abnormality was excluded. In such case, as an alternative, the hypothesis of an apo B abnormality was envisaged. This differential diagnosis is interesting since it permits the choice of an adequate treatment.