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 a...
...Screeni...
...ersal screening for elevated serum cholesterol i...
...Cascade Screening...
...ipid testing of first-degree relatives, known as...
...G...
...reening for FH is generally not needed for diagnos...
...Diagnosis and As...
...at onset of CHD, even if approximate, is parti...
...1. MEDPED Criteria for the Diagn...
...Tendon Xanthoma - Achilles...
...Complete Corneal Arcus...
Figure 3. Tendon Xanthomas - Finger...
Treatment
...Treatment...
...Treatment Cons...
...ith FH have a very high lifetime risk of CHD...
...Risk Factors...
Risk factors are the same in FH as...
...Lifesty...
...ents with FH should be counseled regarding...
...Drug Treatment...
...or adult FH patients, initial treatment...
...I...
...patients may need intensification of drug tr...
...Additio...
...mitapide is an oral microsomal triglyceride...
Adults
...Adults...
Additional Treatment Considerations...
Children
...Chil...
...are clinicians should be responsible for...
.... Familial Hypercholesterolemia Ma...