What is the actual epidemiology of familial hypercholesterolemia in Italy? Evidence from a National Primary Care Database

Autor: Francesco Lapi, Paolo Sbraccia, Damiano Parretti, Valeria Guglielmi, Davide Lauro, Claudio Cricelli, Alfonso Bellia, Gerardo Medea, Massimo Federici, Serena Pecchioli, Iacopo Cricelli
Rok vydání: 2016
Předmět:
Adult
Male
medicine.medical_specialty
Pediatrics
Settore MED/09 - Medicina Interna
Adolescent
Databases
Factual
Familial hypercholesterolemia
Population
Settore MED/09
Primary care
030204 cardiovascular system & hematology
Dutch Lipid Clinical Network
Settore MED/13 - Endocrinologia
Hyperlipoproteinemia Type II
Young Adult
03 medical and health sciences
0302 clinical medicine
Epidemiology
Prevalence
Diabetes Mellitus
medicine
Humans
030212 general & internal medicine
education
Caucasian population
Primary care database
Reimbursement
Aged
Retrospective Studies
Aged
80 and over
education.field_of_study
Primary Health Care
business.industry
Gold standard (test)
Middle Aged
medicine.disease
Lipids
Italy
Dyslipidemia
Population Surveillance
Female
Cardiology and Cardiovascular Medicine
business
Algorithms
Primary care
Dyslipidemia
Diabetes Mellitus
Zdroj: International Journal of Cardiology. 223:701-705
ISSN: 0167-5273
DOI: 10.1016/j.ijcard.2016.08.269
Popis: 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%). Conclusion 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.
Databáze: OpenAIRE
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