Familial hypercholesterolemia diagnosis

Wang J, Ban MR, Hegele RA (2005) Multiplex ligation-dependent probe amplification of LDLR enhances molecular diagnosis of familial hypercholesterolemia. J Lipid Res 46 366-372... 

Familial hypercholesterolemia is an autosomal dominant trait. Although levels of LDL tend to increase throughout childhood, the diagnosis can often be made on the basis of elevated umbilical... 

Both of Ms. Jeina s younger brothers had very high serum cholesterol levels, and both had suffered heart attacks in their mid-forties. With this information, a tentative diagnosis of familial hypercholesterolemia, type IIA was made, and the patient was started on a step I diet as recommended by the National Cholesterol Education Program (NCEP) Adult Treatment Panel III. This panel recommends that decisions with regard to when dietary and drug therapy are initiated based on the serum LDL cholesterol level, as depicted in Table 34.1. 

Baron H, Fung S, Aydin A, et al. (1996). Oligonucleotide ligation assay (OLA) for diagnosis of familial hypercholesterolemia. Nat. Biotechnol. 14 1279-1282. 

The diagnosis of FH is made on clinical grounds. The diagnosis of homozygous FH is usually made on the basis of markedly elevated LDL cholesterol levels, normal triglyceride level, presence of xanthomas, and family history of hypercholesterolemia and/or premature coronary... 

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