Key Points
ÎThe familial hypercholesterolemias (FH) are a group of genetic conditions resulting in severe elevations of blood cholesterol levels.
ÎFH is among the most commonly occurring genetic metabolic disorders.
• The heterozygous form occurs in approximately 1 in 300 to 500 people in many populations (estimated current U.S. prevalence: 620,000), although this ratio is much higher in certain populations in the U.S.
• The homozygous form is quite rare, occurring in approximately 1 out of every one million individuals.
ÎTotal cholesterol concentrations in heterozygous FH patients (genetic defect inherited from one parent) are typically in the range of 300 to 550 mg/dL (but sometimes lower) and in homozygotes (genetic defects inherited from both parents) range from 650 to 1000 mg/dL.
ÎHypercholesterolemia is present from childhood, leading to early development of coronary heart disease (CHD).
ÎThe risk of premature CHD is elevated about 20-fold in untreated FH patients.
ÎFH is a treatable condition.
ÎIn addition to diet and lifestyle modifications, safe and effective medical therapies are available, including statins and other lipid-lowering drugs.
ÎFH is both underdiagnosed and undertreated.
ÎAll primary health care providers and relevant specialists should screen all children and adults for hypercholesterolemia and initiate therapy in patients with FH and severe hypercholesterolemia.
Lipid Specialists
ÎPatients with FH who do not respond adequately to, or are intolerant of, initial statin therapy should be referred to a lipid specialist.
ÎFor children with FH, either consultation with or referral to a lipid specialist is recommended.
