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La prevalenza dell’ipercolesterolemia familiare è maggiore di quanto finora ritenuto

 

La prevalenza dell'ipercolesterolemia familiare è stimata in 1 su 500 per quanto riguarda la forma eterozigote e in 1:1.000.000 per quanto riguarda quella omozigote. Sembra però che la reale prevalenza sia sottostimata e anche di tanto. L'applicazione dei criteri della Dutch Lipid Clinic per la diagnosi almeno presuntiva di ipercolesterolemia familiare ha fatto rivedere al rialzo le stime della prevalenza della malattia che ora viene collocata in un intervallo tra 1:200-1:300. Stime che si basano su diagnosi solo presuntive, ma che hanno un peso reale in quanto i criteri diagnostici della Dutch Lipid Clinic sono stati ampiamente validati dal confronto con diagnosi molecolari. Lo studio della de Ferranti e dei suoi collaboratori ha preso in esame i dati del National Health and Nutrition Examination Survey (NHANES), che viene considerato rappresentativo dell'intera popolazione degli Stati Uniti e, applicando i criteri diagnostici elaborati dalla Dutch Lipid Clinic, conclude che la prevalenza di ipercolesterolemia familiare nella popolazione americana è di 1:250, valore questo non dissimile da quanto stimato in Europa.

 


Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES)

de Ferranti SD, Rodday AM, Mendelson MM, Wong JB, Leslie LK, Sheldrick RC

Circulation 2016;133:1067-1072

 

BACKGROUND: The prevalence of familial hypercholesterolemia (FH) is commonly reported as 1 in 500. European reports suggest a higher prevalence; the US FH prevalence is unknown.
METHODS AND RESULTS: The 1999 to 2012 National Health and Nutrition Examination Survey (NHANES) participants =20 years of age (n=36 949) were analyzed to estimate the prevalence of FH with available Dutch Lipid Clinic criteria, including low-density lipoprotein cholesterol and personal and family history of premature atherosclerotic cardiovascular disease. Prevalence and confidence intervals of probable/definite FH were calculated for the overall population and by age, sex, obesity status (body mass index =30 kg/m(2)), and race/ethnicity. Results were extrapolated to the 210 million US adults =20 years of age. The estimated overall US prevalence of probable/definite FH was 0.40% (95% confidence interval, 0.32-0.48) or 1 in 250 (95% confidence interval, 1 in 311 to 209), suggesting that 834 500 US adults have FH. Prevalence varied by age, being least common in 20 to 29 year olds (0.06%, 1 in 1557) and most common in 60 to 69 year olds (0.85%, 1 in 118). FH prevalence was similar in men and women (0.40%, 1 in 250) but varied by race/ethnicity (whites: 0.40%, 1 in 249; blacks: 0.47%, 1 in 211; Mexican Americans: 0.24%, 1 in 414; other races: 0.29%, 1 in 343). More obese participants qualified as probable/definite FH (0.58%, 1 in 172) than nonobese (0.31%, 1 in 325).
CONCLUSIONS: FH, defined with Dutch Lipid Clinic criteria available in NHANES, affects 1 in 250 US adults. Variations in prevalence by age and obesity status suggest that clinical criteria may not be sufficient to estimate FH prevalence.

 

Circulation 2016;133:1067-1072