Additional risk factors influence excess mortality in heterozygous familial hypercholesterolaemia.

摘要: Life expectancy of patients with familial hypercholesterolaemia is decreased. Some untreated reach a normal life span and, therefore, additional risk factors and the type mutation in low-density lipoprotein (LDL) receptor gene are likely to influence clinical outcome. We determined all cause mortality kindreds disorder, who were untreated, order study (a) for coronary artery disease (CAD) (b) types LDL mutations that may contribute poor prognosis. The 855 first-degree relatives 113 unrelated was compared Dutch population after standardisation age, gender, calendar period. Analyses restricted affected could have underestimated due lack information about severe cases, died prematurely. Therefore, analysed as result standardised ratios (SMRs) exhibit only 50% excess from hypercholesterolaemia. observed 190 deaths 32048 person-years leading an overall SMR 1.34 (95% confidence interval (CI) 1. 16-1.55, P=0.001). High occurred males between age 40 54 (SMR 2.34, 95% CI 1.60-3.31, P<0.001). decreased during last decades. This change over time shows modulate disorder. 62 families referred premature CAD 1.62 1.32-1.93, P<0.001) 1.10 0.86-1.34, P=0.4) 51 without CAD. null alleles similar other mutations. In conclusion, burden disorder mainly among middle-aged not influenced by mutation. Additional increased significantly highlighted presence relatives. underscores need active identification hypercholesterolaemic such patients.