Cardiovascular risk factors and testing of relatives amongst patients with familial hyperlipidaemia one decade after a clinical trial

OBJECTIVES: We examined the cardiovascular disease risk factor status of men and women with familial hyperlipidaemia (FH) 10-11 years after a clinical trial and asked whether first-degree relatives had undergone lipid testing. DESIGN SETTING AND SUBJECTS: Subjects started lipid-lowering drugs in 1987-88. Of 60 subjects, 12 had died, one emigrated and 35 men and 12 women took part in a follow-up clinical examination in 1998. RESULTS: Total cholesterol level was reduced by 41% and high-density lipoprotein (HDL) cholesterol level increased by 13% compared with baseline (diet alone). Low-density lipoprotein (LDL) cholesterol level was lower at the end of the trial than at follow-up (3.6 +/- 1.5 vs. 4.6 +/- 2.2 mmol L-1; P = 0.01) and was higher in the group taking a low dose of a statin alone compared with other drug groups. Thus, two-thirds of the subjects required adjustment of lipid-lowering drugs to reach target lipid levels. One-fifth consumed at least two food groups rich in saturated fat regularly. Body mass index (BMI) increased from 25.6 +/- 2.9 to 26.8 +/- 3.3 kg m-2 (P < 0.001). Five subjects compared with one at baseline had type II diabetes or glucose intolerance; 12 compared with four at baseline had a blood pressure of >/= 160 mmHg systolic or >/= 95 mmHg diastolic. Plasma total homocysteine was higher in subjects with coronary artery disease than in subjects without disease (11.7 +/- 3.9 vs. 9.0 +/- 2.3 micromol L-1; P = 0.01). Barriers to testing for lipids amongst children or siblings included family feuds, fear of increased insurance and psychiatric disease. CONCLUSION: The majority of subjects were undertreated. Increases in BMI, blood pressure and glucose levels and the diet posed challenges to risk reduction. Plasma homocysteine levels should be considered in this group. Testing of all first-degree relatives may not be achievable because of psychological barriers.