At the KAHN CENTER we evaluate the need to treat elevated cholesterol particles and use aggressive lifestyle, supplemental, and pharmaceutical agents if needed. Many patient ask if their elevated cholesterol is genetic or lifestyle related. Testing is available to assess the genetics of Familial Hyperlipidemia (FH).
Does it matter to the patient is they are found to have FH?
A new study provides information on this important topic.
STUDY
A registry-based cohort study including patients genetically tested for FH from 1991 to 2023. Exposure was genetic mutation in the LDL, APOB, or PCSK-9 genes within the different LDL groups: LDL-C <5 mmol/L, LDL-C 5 to 7 mmol/L, and LDL-C >7 mmol/L (European units). Atherosclerotic cardiovascular disease (ASCVD) was defined as composite major adverse cardiac events (MACE) comprising myocardial infarction, cardiovascular death, angina pectoris, and stroke.
RESULTS
The study included 2327 patients, comprising 958 with FH mutation and 1369 without. Mean follow-up time was 14 years.
LDL-C was significantly associated with the risk of future ASCVD, with a hazard ratio (HR) of 1.17 per 1 mmol/L increase in LDL-C.
No significant difference in risk of MACE was found between those with vs without a genetic FH mutation.
CONCLUSION
Genetic FH mutation did not confer additional risk when compared to individuals without an FH mutation but with similar LDL-C levels. These findings suggest that LDL-C levels - rather than FH mutation status - should guide the intensity of lipid-lowering therapy.
Genetic testing for FH is available and the cost is coming down but it still can be expensive. This study suggests it is not crucial to know whether a patient has genetic FH or not. What determines risk is the level of the LDL-cholesterol and the degree of pre-existing ASCVD.
This information is quite useful and will be applied to patients at the KAHN CENTER.
