Detection of Familial Hypercholesterolaemia in Cardiovascular Disease Registry
Condition: Familial Hypercholesterolemia; Cardiac Event; Percutaneous Coronary Intervention
MeSH terms: Cardiovascular Diseases; Hyperlipoproteinemia Type II; Hypercholesterolemia
Study type: Observational [Patient Registry]

Summary: 
      Familial hypercholesterolaemia (FH) is an autosomal dominant somatic mutation commonly
      located on the LDL-receptor, APOB, and PCKS9 gene. The estimated prevalence of homozygous FH
      is estimated at 1 in a million, whereas the prevalence of heterozygous FH ranges from
      1/500-1/200 (0.2-0.5%) of the general population. The majority of individuals suffering from
      FH remain undiagnosed and without treatment. Using preexisting clinical guidelines, this
      study scored patients within national cardiovascular disease (CVD) registries for FH with the
      aim of evaluating prevalence of FH among individuals suffering from premature cardiac events
      within the UK.

      Following scoring of the registry, this study also examined the relationship between
      cholesterol and survival after a premature event in order to understand the possible
      ramifications of untreated FH on patient survival.
    

Detailed description: 
      Familial Hypercholesterolaemia (FH) is a genetic disorder caused by a mutation in the
      low-density lipoprotein receptor (LDL-R) gene. Individuals suffering from FH experience
      elevated cholesterol levels that are outside of the accepted range of healthy cholesterol
      levels. When left untreated FH may cause complications in cardiovascular health and may cause
      premature cardiac events. Current screening methods for this disease do not successfully
      diagnose the majority of FH cases.

      This study applies three clinical diagnostic tools--Dutch Lipid Clinic Network Criteria
      (DLCN-Criteria), Make Early Diagnosis to Prevent Early Deaths (MEDPED) criteria, and the
      Simon Broome Register Criteria--within national registries in order to define possible,
      probable, and definite cases of FH. The national registries used for this study are the
      Myocardial Ischaemia National Audit Project (MINAP) and National Audit of Percutaneous
      Coronary Intervention (BCIS) audit.

      Following scoring of patients, a one-year and 30-day survival model were created in order to
      assess the effect of elevated cholesterol on survival, as suspected FH patients will have
      elevated cholesterol levels.

      Data within MINAP ranges from 2003-2013 and data from BCIS ranges from 2007-2014.

      Patient information within the audits was collected following admission to English and Welsh
      hospitals following a coronary event or percutaneous coronary intervention (PCI). Information
      related to survival and mortality was collected annually within each audit.

      Participants for this study were those experiencing a premature cardiovascular event or
      coronary intervention (men <55 and women<60).
    

Observational model: Cohort
Time perspective: Cross-Sectional
Sampling method: Non-Probability Sample
Study population: 
        UK based clinical population (participating hospitals across England and Wales).