Patients with familial hypercholesterolaemia are characterized by presence of cardiovascular disease at the time of death

Aims Untreated familial hypercholesterolaemia (FH) increases the risk of premature atherosclerosis and cardiovascular disease (CVD). This study investigated the presence of CVD in FH patients at the time of death. Methods and results The presence of CVD, lipid profile, medical treatment, and cause of death was characterized in all deceased Norwegian FH patients, of whom we had access to medical records (n = 79, from 1989 to 2010). The mean age at first CVD event was 44 years. The mean age at the time of death was 60 years. Cardiovascular disease was the cause of 50% of the deaths. At the time of death, 93% of the FH patients had established CVD and 69% had experienced myocardial infarction. The FH patients were divided into two groups (cut-off 60 years); FH patients who died at a younger age (mean age 51 years) and at an older age (mean age 71 years). More of the younger FH patients received statins (98 vs. 81%, P = 0.038), and fewer received niacin (0 vs. 17%, P = 0.019) compared with the older patients. The last measured low-density lipoprotein cholesterol level was higher in the younger patients compared with the older FH patients (5.3 vs. 4.4 mmol/L, P = 0.033). There were more current smokers among the younger FH patients compared with the older patients (55 vs. 10%, P = 0.001). Interestingly, there were no sex differences in age at the first CVD event or age at the time of death. Conclusion Cardiovascular disease is present in most FH patients at the time of death, underscoring the severity of FH and the need for early diagnosis and treatment.