title: What is the actual epidemiology of familial hypercholesterolemia in Italy? Evidence from a National Primary Care Database.
abstract: BACKGROUND
  There are some inconsistencies on prevalence estimates of familial hypercholesterolemia (FH) in general population across Europe due to variable application of its diagnostic criteria. We aimed to investigate the FH epidemiology in Italy applying the Dutch Lipid Clinical Network (DLCN) score, and two alternative diagnostic algorithms to a primary care database.
  
  
  METHODS
  We performed a retrospective population-based study using the Health Search IMS Health Longitudinal Patient Database (HSD) and including active (alive and currently registered with their general practitioners (GPs)) patients on December 31, 2014. Cases of FH were identified by applying DLCN score. Two further algorithms, based on either ICD9CM coding for FH or some clinical items adopted by the DLCN, were tested towards DLCN itself as gold standard.
  
  
  RESULTS
  We estimated a prevalence of 0.01% for "definite" and 0.18% for "definite" plus "probable" cases as per the DLCN. Algorithms 1 and 2 reported a FH prevalence of 0.9 and 0.13%, respectively. Both algorithms resulted in consistent specificity (1: 99.10%; 2: 99.9%) towards DLCN, but Algorithm 2 considerably better identified true positive (sensitivity=85.90%) than Algorithm 1 (sensitivity=10.10%).
  
  
  CONCLUSIONS
  The application of DLCN or valid diagnostic alternatives in the Italian primary care setting provides estimates of FH prevalence consistent with those reported in other screening studies in Caucasian population. These diagnostic criteria should be therefore fostered among GPs. In the perspective of FH new therapeutic options, the epidemiological picture of FH is even more relevant to foresee the costs and to plan affordable reimbursement programs in Italy.
authors: Department of Systems Medicine, University of Rome "Tor Vergata", Italy.
authors: Valeria
authors: V
authors: Guglielmi
authors: Department of Systems Medicine, University of Rome "Tor Vergata", Italy.
authors: Alfonso
authors: A
authors: Bellia
authors: Health Search, Italian College of General Practitioners and Primary Care, Florence, Italy.
authors: Serena
authors: S
authors: Pecchioli
authors: Italian College of General Practitioners and Primary Care, Florence, Italy.
authors: Gerardo
authors: G
authors: Medea
authors: Italian College of General Practitioners and Primary Care, Florence, Italy.
authors: Damiano
authors: D
authors: Parretti
authors: Department of Systems Medicine, University of Rome "Tor Vergata", Italy.
authors: Davide
authors: D
authors: Lauro
authors: Department of Systems Medicine, University of Rome "Tor Vergata", Italy.
authors: Paolo
authors: P
authors: Sbraccia
authors: Department of Systems Medicine, University of Rome "Tor Vergata", Italy.
authors: Massimo
authors: M
authors: Federici
authors: Health Search, Italian College of General Practitioners and Primary Care, Florence, Italy.
authors: Iacopo
authors: I
authors: Cricelli
authors: Italian College of General Practitioners and Primary Care, Florence, Italy.
authors: Claudio
authors: C
authors: Cricelli
authors: Health Search, Italian College of General Practitioners and Primary Care, Florence, Italy. Electronic address: lapi.francesco@simg.it.
authors: Francesco
authors: F
authors: Lapi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000465:Algorithms; D016208:Databases, Factual; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000175:diagnosis / Q000453:epidemiology*; D007558:Italy / Q000453:epidemiology; D008055:Lipids / Q000097:blood; D008297:Male; D008875:Middle Aged; D011159:Population Surveillance; D015995:Prevalence; D011320:Primary Health Care / Q000706:statistics & numerical data*; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D008055:Lipids
keywords: Dutch Lipid Clinical Network; Familial hypercholesterolemia; Primary care