Post-mortem investigation of young deceased individuals with ischemic heart disease—outcome of supplementary genetic testing for dyslipidemia

Excerpt

The prevailing aetiology of sudden and natural death in the Western countries is ischemic heart disease (IHD) [1‐3]. The majority of the patients are elderly with predisposing risk factors such as obesity, physical inactivity, hypertension, smoking and diabetes [4]. Ischemic heart disease in the young (<50 years) may be caused by familial hypercholesterolemia (FH). The prevalence of FH is generally accepted to be approximately 0.2 % in most European populations [5]. However, a recent Danish study suggests a higher prevalence of 0.7 % [6]. Familial hypercholesterolemia is associated with markedly increased levels of serum low-density lipoprotein (LDL) from birth. This increases the risk of premature IHD and in Denmark a 13-fold increased risk has been reported [7]. Genetic variations in the LDL-receptor gene (LDLR) are the most common aetiologies of FH [8] and are found in approximately half of the patients fulfilling clinical diagnostic criteria for FH. Variants in apolipoprotein B (APOB) are also relatively common [9]. In previous post-mortem studies, variants in LDLR were found in 2–6 % of the deceased individuals with premature IHD [10, 11]. …