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
...iagnosis and Screen...
...reening...
...al screening for elevated serum cholest...
...ade Screenin...
...testing of first-degree relatives,...
Genetic Screening
...reening for FH is generally not ne...
...gnosis and Assessment...
Age at onset of CHD, even if approximate, is...
...e 1. MEDPED Criteria for the Diagnosis of FH
...e 1. Tendon Xanthoma - Achille...
...2. Complete Corneal Arcus
...endon Xanthomas - Fingers...
Treatment
...atment...
...atment Considerations
...duals with FH have a very high lifetime risk o...
...k Factors...
...are the same in FH as in the general populati...
...style Modification...
...ients with FH should be counseled re...
Drug Treatment of FH in Adult...
...dult FH patients, initial treatment is the u...
...ntensified Drug Treatme...
...patients may need intensification of dru...
...nal Treatments for Adults With Homozygous FH...
...mitapide is an oral microsomal trigly...
Adults
Adul...
...ditional Treatment Considerations If t...
Children
Childre...
...ry care clinicians should be responsible f...
...gure 4. Familial Hypercholesterolemia...