Prevalence of genetically verified familial hypercholesterolemia among young (<45 years) Norwegian patients hospitalized with acute myocardial infarction

Background Patients with familial hypercholesterolemia (FH) have an increased risk of premature myocardial infarction (MI). Objectives The objective of the study is to investigate the prevalence of FH among young patients hospitalized with acute MI. Methods Data were collected from medical charts of all patients aged 4.0 mmol/L (155 mg/dL). Results Of 9332 patients admitted with acute MI, 357 were aged 4.0 mmol/L (155 mg/dL). Of these, data from 52 patients genetically tested for FH were available. Eleven patients had genetically verified FH constituting 3.4% of the total eligible population (n = 328), 8.5% of those with indications for genetic testing (n = 130), and 21.2% of those actually tested (n = 52). A Dutch Lipid Clinic Network score for clinical FH diagnosis of “definite FH” identified only 5 of the 11 patients with positive genetic test (45%). Including a score of “probable FH” identified all patients with FH but also 17 of the 41 patients (41%) with a negative genetic test. Conclusion The prevalence of FH in young patients with acute MI was higher than in the general population. Routine evaluation of FH diagnosis among these patients could identify more patients with FH, thereby increasing the possibility of initiating early and adequate treatment also among affected relatives