FH Recommendations and Guidelines
Summary of Guidance
Professional groups in the United States, United Kingdom, Spain, Germany, the Netherlands, France, and more have called for increased efforts to diagnose and treat FH. An estimated 80% of the world’s familial hypercholesterolemia (FH) populations remains undiagnosed.1
Recommendations hinge on these principles:
- Recognize family histories and low-density lipoprotein (LDL) levels that suggest FH.1
- Screen family members of FH patients.1
- Screen children with a family history of early CVD or dyslipidemia between the ages of 2 and 8. Conduct lipid screening on all children between the ages of 9 and 11.2
- Implement aggressive lipid-lowering strategies—drug therapy and lifestyle changes.1
- Educate patients about the disorder and therapies.
- Increase awareness and recognition of FH across medical disciplines.
- Consult a lipid clinic when needed for more challenging cases.1
The data shows risk and cost associated with FH.
- Risk of premature coronary heart disease is elevated about 20-fold in untreated patients.
- Accelerated atherosclerosis may begin in childhood in patients with FH.
- Cascade testing is the most cost-effective means of identifying undiagnosed patients.
- General population screening of a young population (before age 16) is similarly cost-effective in terms of cost per year of life saved, when treatment is begun.1
National Heart, Lung, and Blood Institute (NHLBI) and American Academy of Pediatrics (AAP): Testing Should Start Early
Damage caused by atherosclerosis begins in childhood in FH patients most seriously impacted by cardiovascular disease (CVD).1 The latest guidelines from the National Heart, Lung, and Blood Institute (NHLBI) and the American Academy of Pediatrics (AAP) include:
- Screen children with a known family history of dyslipidemia or premature onset of CVD (≤55 years of age in men and ≤65 years of age in women) between the ages of 2 and 8.2
- Screen children with an unknown family history but with other risk factors such as obesity, hypertension, and diabetes between the ages of 2 and 8.2
- Conduct lipid screening on all children between the ages of 9 and 11, and again between the ages of 17 and 21.2
Access NHLBI/AAP recommendations
National Lipid Association (NLA): Treatment Should Be Aggressive
The NLA recommends:
- Universal screening for elevated serum cholesterol at or before the age of 20 years.
- Cascade screening in all first-degree relatives of patients with a diagnosis of FH.
- Testing of all children of FH patients beginning at age 2.1
Since untreated FH causes rapidly accelerated atherosclerosis, the NLA recommends a lipid-lowering plan designed to reduce low-density lipoprotein (LDL) levels by at least 50% with:
- Lipid-lowering drug therapy.
- A low-cholesterol diet.
- Avoidance of smoking.
- High physical activity level.1
Download a Summary of Clinical Guidance from the NLA's Expert Panel on FH
Download Highlights for Clinical Practice from the NLA's Expert Panel on FH
ATP III: Very High LDL Usually Linked to Genetic Disorders
The Third Report of the National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults (ATP III) states that genetic disorders like FH are usually responsible for very high LDL cholesterol (≥190 mg/dL). The report recommends family testing of relatives and early detection in young adults to reduce risks associated with premature coronary heart disease.10
Access the National Cholesterol Education Program’s Final Report of the Expert Panel
Why FH Is Important in Primary Care and Cardiology Practice
Watch a discussion with Christie M. Ballantyne, MD on the importance of the NLA recommendations. Dr. Ballantyne is Director, Center for Cardiovascular Disease Prevention, Methodist DeBakey Heart Center; Codirector, Lipid Metabolism and Atherosclerosis Clinic, The Methodist Hospital; Associate Chief and Clinical Director, Section of Atherosclerosis, Department of Medicine; Director, Maria and Alando J. Ballantyne Atherosclerosis and Lipid Laboratory; and Professor of Medicine and Pediatrics, Baylor College of Medicine, Houston, Texas.