LINEE GUIDA CLINICHE PER LA PREVENZIONE DELLA CARDIOPATIA ISCHEMICA NELLA IPERCOLESTEROLEMIA FAMILIARE
Una patologia sotto-diagnosticata e sotto-trattata
AIMS. Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart
disease (CHD) due to lifelong elevated plasma low-density lipoprotein (LDL) cholesterol levels. This
paper aims to describe the problem of FH underdiagnosis and undertreatment and to promote CHD
prevention providing recommendations for the screening and treatment of patients with FH.
Methods and results. In many countries, less then 1% of FH patients are diagnosed, although the estimated prevalence of this condition is about 1/500 for heterozygous FH and the results of FH screening in a general population of Northern Europe suggest a prevalence of 1/200.
Studies on FH patients agree on a widespread failure to achieve recommended target of LDL-cholesterol and on a 12-fold increased CHD risk. With a theoretical prevalence between 1/500 and 1/200, it
is estimated that 14 to 34 million subjects worldwide have FH.
With evidence of plasma cholesterol ≥8 mmol/L (≥310 mg/dL) in an adult or ≥6 mmol/L (≥230 mg/dL)
in a child, premature CHD, tendon xanthomas, or sudden premature cardiac death, we recommend
the screening for FH of this subject and of all first-degree relatives.
The treatment of a patient with diagnosis of FH should have LDL targets of <3.5 mmol/L (<135 mg/
dL) for children, <2.5 mmol/L (<100 mg/dL) for adults, and <1.8 mmol/L (<70 mg/dL) for adults with
known CHD or diabetes. Beside life-style and dietary modifications, first line therapies are statins,
ezetimibe, and bile acid binding resins in children, and maximal potent statin dose, ezetimibe, bile acid
binding resins, and fibrates in adults. Homozygotes FH and in treatment-resistant heterozygotes FH
with CHD should be referred for LDL-apheresis.
Conclusion. Familial hypercholesterolemia is a common condition that carries a high risk of CHD.
The underdiagnosis and undertreatment of FH require a focused intervention that implements the
screening and promote the early and aggressive treatment of these patients
