Familial Hypercholesterolemia
Key Points
Key Points
- The familial hypercholesterolemias (FHs) are a group of genetic conditions resulting in severe elevations of blood cholesterol levels.
- FH 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 US prevalence: 620,000), although this ratio is much higher in certain populations in the United States.
- The homozygous form is quite rare, occurring in approximately 1 out of every one million individuals.
- Total 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 homozygoous FH patients (genetic defects inherited from both parents) they range from 650 to 1000 mg/dL.
- Hypercholesterolemia is present from childhood, leading to early development of coronary heart disease (CHD).
- The risk of premature CHD is elevated about 20-fold in untreated FH patients.
- FH is a treatable condition.
- In addition to diet and lifestyle modifications, safe and effective medical therapies are available, including statins and other lipid-lowering drugs.
- FH is both underdiagnosed and undertreated.
- All primary healthcare providers and relevant specialists should screen all children and adults for hypercholesterolemia and initiate therapy in patients with FH and severe hypercholesterolemia.
Lipid Specialists
- Patients with FH who do not respond adequately to, or are intolerant of, initial statin therapy should be referred to a lipid specialist.
- For children with FH, either consultation with or referral to a lipid specialist is recommended.
Diagnosis and Screening
...Diagnosis an...
...Sc...
...reening for elevated serum cholesterol is recomm...
...Cascade Screening...
...ipid testing of first-degree relatives,...
...Genetic Scr...
...netic screening for FH is generally not needed...
...Diagnosis...
...of CHD, even if approximate, is parti...
...ble 1. MEDPED Criteria for the Diagnosis of FH...
...gure 1. Tendon Xanthoma - Achill...
...2. Complete Corneal Ar...
...endon Xanthomas - Fingers...
Treatment
...Treatment...
...Treatment Consideratio...
...dividuals with FH have a very high life...
...Risk Factors
...Risk factors are the same in FH as i...
...L...
...ients with FH should be counseled regarding...
Drug Tre...
...For adult FH patients, initial treatme...
...Intensified Dru...
...igher-risk patients may need intensification of dr...
...Additional T...
Lomitapide is an oral microsomal tri...
Adults
...Adults...
Additional Treatment Considerations If...
Children
...Child...
...ry care clinicians should be responsible for s...
...Familial Hypercholesterolemia Management...