Table 7a. [Treatment of Manifestations in Adults with Familial Hypercholesterolemia]. - GeneReviews®

Manifestation/Concern	Treatment	Considerations/Other
Hyperlipidemia	Regular physical activity Healthy diet (↓ saturated fat intake, ↑ intake of soluble fiber to 10-20 g/day) Weight control &/or weight loss as needed
Statin therapy to ↓ LDL-C level by ≥50% or to <100 mg/dL (<2.6 mmol/L). ¹ Dose should be titrated every few mos to highest tolerated dose.	Many guidelines suggest a target LDL-C of <100 mg/dL even in those w/o CAD due to lifelong high LDL-C. ² If there is a history of CAD or stroke, target LDL-C levels should be lower (LDL-C <70 mg/dL).
Consider referral to lipid specialist w/expertise in FH if LDL-C levels cannot be reduced by ≥50% or to <100 mg/dL w/maximal medical therapy over 6 mos.
Addl treatments if targeted LDL-C level is not achieved: Ezetimibe Bile acid sequestrants PCSK9 inhibitors Bempedoic acid	The potential benefit of multidrug regimens should be weighed against ↑ cost & potential for adverse effects & ↓ adherence. Note: Niacin was used historically but is generally not favored before other options (Table 7b) have been exhausted.
More aggressive treatment may be needed in those w/the following CAD risk factors: Clinically evident CAD or other atherosclerotic CVD; goal is LDL-C level of <70 mg/dL (<1.8 mmol/L) Diabetes mellitus or metabolic syndrome Family history of very early CAD (CAD diagnosed in men age <45 yrs; women age <55 yrs) Current smoking High lipoprotein(a) (≥50 mg/dL [≥1.3 mmol/L] using an isoform-insensitive assay)
CVD / Compounding risk factors	Consider low-dose aspirin (75-81 mg/day) in those w/CAD, prior stroke, or at high risk for CAD or stroke. Smoking cessation Measure serum lipoprotein(a).
Treatment for diabetes mellitus Treatment of hypertension	Treat blood pressure to 140/90 mm Hg (or 130/80 mm Hg in those w/diabetes mellitus).

Manifestation/Concern

Treatment

Considerations/Other

Hyperlipidemia

Regular physical activity
Healthy diet (↓ saturated fat intake, ↑ intake of soluble fiber to 10-20 g/day)
Weight control &/or weight loss as needed

Statin therapy to ↓ LDL-C level by ≥50% or to <100 mg/dL (<2.6 mmol/L). ¹ Dose should be titrated every few mos to highest tolerated dose.

Many guidelines suggest a target LDL-C of <100 mg/dL even in those w/o CAD due to lifelong high LDL-C. ² If there is a history of CAD or stroke, target LDL-C levels should be lower (LDL-C <70 mg/dL).

Consider referral to lipid specialist w/expertise in FH if LDL-C levels cannot be reduced by ≥50% or to <100 mg/dL w/maximal medical therapy over 6 mos.

Addl treatments if targeted LDL-C level is not achieved:

Ezetimibe
Bile acid sequestrants
PCSK9 inhibitors
Bempedoic acid

The potential benefit of multidrug regimens should be weighed against ↑ cost & potential for adverse effects & ↓ adherence.
Note: Niacin was used historically but is generally not favored before other options (Table 7b) have been exhausted.

More aggressive treatment may be needed in those w/the following CAD risk factors:

Clinically evident CAD or other atherosclerotic CVD; goal is LDL-C level of <70 mg/dL (<1.8 mmol/L)
Diabetes mellitus or metabolic syndrome
Family history of very early CAD (CAD diagnosed in men age <45 yrs; women age <55 yrs)
Current smoking
High lipoprotein(a) (≥50 mg/dL [≥1.3 mmol/L] using an isoform-insensitive assay)

CVD / Compounding
risk factors

Consider low-dose aspirin (75-81 mg/day) in those w/CAD, prior stroke, or at high risk for CAD or stroke.
Smoking cessation
Measure serum lipoprotein(a).

Treatment for diabetes mellitus
Treatment of hypertension

Treat blood pressure to 140/90 mm Hg (or 130/80 mm Hg in those w/diabetes mellitus).

From: Familial Hypercholesterolemia

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Adam MP, Feldman J, Mirzaa GM, et al., editors.

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