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Accepted manuscript version. Published version available at https://doi.org/10.1161/STROKEAHA.118.023456. Background and Purpose: Familial hypercholesterolemia (FH) is a common autosomal dominant disease leading to increased level of serum LDL (low-density lipoprotein) cholesterol and risk of coronary heart disease. Whether FH increases the risk of cerebrovascular disease, including ischemic stroke, is debated. Accordingly, we studied the incidence of cerebrovascular disease in a cohort of people with genetically verified FH compared with the entire Norwegian population and examined whether people in this cohort with previous cohort had increased risk of cerebrovascular disease. Methods: Incidence rates of hospitalization for cerebrovascular disease (among 3144 people with FH) and ischemic stroke (among 3166 people with FH) were estimated by linkage of FH people to Cardiovascular Disease in Norway—a nationwide database of cardiovascular disease hospitalizations (2001–2009). We calculated standardized incidence ratios and used Cox regression to estimate hazard ratios. Results: A total of 46 cases (19 women and 27 men) of cerebrovascular disease were observed in the cohort of people with FH, with no increased risk of cerebrovascular disease compared with the general population (standardized incidence ratio, 1.0; 95% CI, 0.8–1.4). Total number of ischemic strokes in the cohort of people with FH was 26 (9 women and 17 men), with no increased risk compared with the general population (standardized incidence ratio, 1.0; 95% CI, 0.7–1.5). Prior coronary heart disease significantly increased cerebrovascular disease risk in women (hazard ratio, 3.29; 95% CI, 1.20–9.00) but not in men (hazard ratio, 1.03; 95% CI, 0.45–2.37; Pinteraction=0.04). Conclusions: In a large cohort of genetically verified FH, risks of cerebrovascular disease and ischemic stroke were not increased compared with the total Norwegian population.

We present a case regarding a 25-year-old woman who had been taking unauthorized weight loss pills prior to a sudden cardiac arrest from which she was resuscitated by paramedics. Her initial electrocardiogram revealed a prolonged corrected QT-interval (QTc). During admission she developed torsades de pointes and was treated with magnesium sulphate and temporary pacing. An electrophysiological study, a coronary angiogram and genetic testing for long QT syndrome all revealed normal results. After cessation of the pills the QTc normalized, and two weeks later she was discharged.

We described the history of disease of 5-year old boy with chylomicronemia. Chylomicronemia, recurrent abdominal pain, eruptive xantomas were the only clinical improvement for LPL activity deficit and a sign to detect the real primary cause on molecular instance. SSCP-analysis, DNA-sequencing and finally RFLP analysis showed that a child is homozygote and his parents are heterozygotes for TGG→ CGG change in codon 86 of the lipoprotein lipase gene, which leads to W86R amino acid substitution. DNA sequence analysis showed also a silent mutation on third exon of father’ s DNA, V108V. Determinations of some LPL gene polymorphisms showed that children and his parents have Hind III/H+H+, and 447SS genotypes, but for Pvu II parents have P+P-, and a child P+P+ genotype. The etiology of the disease in this boy is satisfactory clarified at the molecular genetic level. W86R mutation is a main reason for production of nonfunctional enzyme and consequently triacylglycerol over 15 mmol/L. This is a risk for developing very often an acute pancreatitis. Decreased LPL activity leads to elevates triacylglycerol level and reduced HDL-cholesterol, both risk factors for the development of coronary artery disease. LPL genotyping of especially young patients with hypertriglyceridemia is therefore necessary and justifiable.