Familial Hypercholesterolemia

Publication Date: June 1, 2011

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

...nosis and Screening

...reening...

Universal screening for elevated serum choleste...


...de Screening...

...Lipid testing of first-degree relatives, known...


Genetic Screening

...c screening for FH is generally no...


...iagnosis and Assessment

...t onset of CHD, even if approximate, is particula...


...1. MEDPED Criteria for the Diagnosis of FH...


...re 1. Tendon Xanthoma - Achi...


...2. Complete Corneal A...


...endon Xanthomas - Fingers...


Treatment

...eatment

...reatment Consider...

...ith FH have a very high lifetime risk o...


...Factors...

...actors are the same in FH as in the general p...


...estyle Modifications...

...nts with FH should be counseled regarding...


...tment of FH in Adults...

...t FH patients, initial treatment is the u...


...ified Drug Treatment...

...igher-risk patients may need intensi...


...tional Treatments for Adults With Homozygous F...

...Lomitapide is an oral microsomal tr...


Adults

Adul...

...ditional Treatment Considerations If th...


Children

Children

...Primary care clinicians should be r...


...ial Hypercholesterolemia Management...