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خرید پکیج
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Management implications of results of positive genetic testing for LDLR, APOB, and PCSK9

Management implications of results of positive genetic testing for LDLR, APOB, and PCSK9
Children
  • Hyperlipidemia expertise should be sought.
  • Thorough family history, physical examination, and lipid profile.
  • Cardiology should evaluate those with homozygous FH to assess cardiac function and provide other interventions as appropriate.
  • Statin therapy for elevated LDL-C.*
    • Initiated as early as infancy for homozygous FH.
    • Initiated as early as age 8 to 10 years for heterozygous FH.
  • Additional lipid-lowering approaches are almost invariably required for those with homozygous FH.
  • Counseling and testing of at-risk relatives.
Adults
  • Thorough family history, physical examination, and lipid profile.
  • Thorough cardiovascular risk assessment.
  • Statin therapy for elevated LDL-C.*
    • High-intensity statin for most heterozygous FH.
    • Other approaches may be appropriate for those with homozygous FH (LDL-apheresis, lomitapide, a PCSK9 inhibitor).
  • Attention to other cardiovascular risk reduction strategies (avoidance of smoking, screening and management of diabetes and hypertension, management of diet and weight).
  • Counseling and testing of at-risk relatives.
Positive genetic testing refers to a finding of one or more pathogenic or likely pathogenic variants. Management is mostly the same regardless of which gene(s) are involved. For those with a variant of uncertain significance (VUS), management is based on family history and assessment of the tested individual (cardiovascular disease and/or cardiovascular risk factors, including lipid profile). Management decisions should involve shared decision-making with the tested individual and/or their caregivers, especially related to the testing of minor children. Any individual with a positive family history of atherosclerotic disease (cardiovascular, cerebrovascular, or peripheral vascular) should have an evaluation of risk factors including a lipid profile.

LDLR: low-density lipoprotein receptor gene; APOB: apolipoprotein B gene; PCSK9: proprotein convertase subtilisin kexin 9 gene; LDL-C: low-density lipoprotein cholesterol.

* Refer to UpToDate for discussions of target LDL-C, which depends on whether there is preexisting atherosclerotic disease and other cardiovascular risk factors.

¶ Typically refers to first-degree relatives, with cascade testing of their first-degree relatives if they carry a pathogenic or likely pathogenic variant, but in some cases second-degree relatives may be tested directly if first-degree relatives are unavailable for testing.
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