title: Mortality among patients with familial hypercholesterolemia: a registry-based study in Norway, 1992-2010.
abstract: BACKGROUND
  Untreated patients with familial hypercholesterolemia are at increased risk of premature cardiovascular death. The primary aim of this study was to investigate whether this is also the case in the statin era.
  
  
  RESULTS
  In this registry-based study, 4688 male and female patients from the Unit for Cardiac and Cardiovascular Genetics (UCCG) Registry with verified molecular genetic diagnosis of familial hypercholesterolemia in the period 1992-2010 were linked to the Norwegian Cause of Death Registry. Standardized mortality ratios and 95% CIs were estimated. There were 113 deaths. Mean age of death was 61.1 years. Cardiovascular disease was the most common cause of death (46.0%), followed by cancer (30.1%). Compared with the Norwegian population, cardiovascular disease mortality was significantly higher in the UCCG Registry in all age groups younger than 70 years (standardized mortality ratio 2.29, 95% CI 1.65 to 3.19 in men and women combined; standardized mortality ratio 2.00, 95% CI 1.32 to 3.04 in men; standardized mortality ratio 3.03, 95% CI 1.76 to 5.21 in women). No significant differences were found in all-cause mortality or cancer mortality.
  
  
  CONCLUSIONS
  Despite prescription of lipid-lowering drugs, familial hypercholesterolemia patients still had significantly increased cardiovascular disease mortality compared with the general Norwegian population.
authors.affiliation: The Lipid Clinic, Oslo University Hospital Rikshospitalet, Oslo, Norway (L.M., L.O., K.R.).
authors.forename: Liv
authors.initials: L
authors.lastname: Mundal
authors.affiliation: Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway (M.S., P.O.I., M.B.V., K.R.).
authors.forename: Mirza
authors.initials: M
authors.lastname: Sarancic
authors.affiliation: The Lipid Clinic, Oslo University Hospital Rikshospitalet, Oslo, Norway (L.M., L.O., K.R.).
authors.forename: Leiv
authors.initials: L
authors.lastname: Ose
authors.affiliation: Department of Hematology, Oslo University Hospital Rikshospitalet, Oslo, Norway (P.O.I.) Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway (M.S., P.O.I., M.B.V., K.R.).
authors.forename: Per Ole
authors.initials: PO
authors.lastname: Iversen
authors.affiliation: Statistics Norway, Oslo, Norway (J.K.B.).
authors.forename: Jens-Kristian
authors.initials: JK
authors.lastname: Borgan
authors.affiliation: Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway (M.S., P.O.I., M.B.V., K.R.) Oslo Centre for Biostatistics and Epidemiology, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway (M.B.V.).
authors.forename: Marit B
authors.initials: MB
authors.lastname: Veierød
authors.affiliation: Unit for Cardiac and Cardiovascular Genetics, Oslo University Hospital Ullevaal, Oslo, Norway (T.P.L.).
authors.forename: Trond P
authors.initials: TP
authors.lastname: Leren
authors.affiliation: The Lipid Clinic, Oslo University Hospital Rikshospitalet, Oslo, Norway (L.M., L.O., K.R.) Department of Nutrition, Institute of Basic Medical Sciences, University of Oslo, Oslo, Norway (M.S., P.O.I., M.B.V., K.R.).
authors.forename: Kjetil
authors.initials: K
authors.lastname: Retterstøl
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002318:Cardiovascular Diseases / Q000175:diagnosis / Q000401:mortality* / Q000517:prevention & control; D002423:Cause of Death; D005260:Female; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000627:therapeutic use; D006938:Hyperlipoproteinemia Type II / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics / Q000401:mortality*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009664:Norway / Q000453:epidemiology; D010375:Pedigree; D010641:Phenotype; D011973:Receptors, LDL / Q000235:genetics; D012042:Registries; D018570:Risk Assessment; D012307:Risk Factors; D013997:Time Factors; D016896:Treatment Outcome; D055815:Young Adult
chemical_list: D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; C573412:LDLR protein, human; D011973:Receptors, LDL
keywords: cardiovascular diseases; hypercholesterolemia; mortality; registries; statins