Diagnosis of Familial Combined Hyperlipidemia Based on Lipid Phenotype Expression in 32 Families Results of a 5-Year Follow-Up Study

摘要: Familial combined hyperlipidemia (FCH) is characterized by a variable expression of hypercholesterolemia and/or hypertriglyceridemia. We evaluated the variability in lipid phenotype over 5-year period and studied factors affecting expression. A total 32 families (299 subjects) were 1994 1999. Subjects classified as having FCH when cholesterol triglyceride levels exceeded 90th percentile adjusted for age sex. In 1994, 93 (31%) 299 subjects affected, whereas 206 (69%) unaffected relatives. 1999, diagnosis was consistent 69 (74%) subjects. So, 26% showed sporadic normolipidemic pattern (ie, triglycerides <90th percentile) Among relatives 178 (86%) remained 28 (14%) developed an phenotype. Multiple regression analysis that sex (odds ratio 2.03, 95% CI 1.09 to 3.87; P =0.03) body mass index 1.14, 1.05 1.24; <0.01) significantly contributed Thus, FCH, based on plasma levels, only 74% period. Two other major characteristics our group, compared with relatives, included elevated apolipoprotein B (apoB) presence small dense low density lipoprotein (LDL), reflected value parameter K (apoB 1461±305 versus 997±249 mg/L, respectively [ <0.001]; −0.22±0.19 −0.02±0.19, <0.001]). now report apoB concentration show less time are more consistently associated inasmuch affected subjects, persistently higher level lower , reflecting LDL, even they present pattern. conclusion, results emphasize need reevaluation diagnostic criteria FCH. demonstrate LDL attractive new candidates defining Further studies indicated evaluate role