Background: Heterozygous Familial Hypercholesterolemia (heFH) is an autosomal dominant disorder caused by a defect in a low-density lipoprotein (LDL) receptor gene and results in drastically elevated serum LDL levels. These patients have a decreased life expectancy secondary to sudden death and myocardial infarction. The clinical course of heFH patients is variable and not directly related to serum LDL levels. Recent studies have also shown that many heFH patients with coronary artery disease (CAD) present asymptomatically. Computed tomography coronary angiography (CTCA) is one means of detecting subclinical CAD. However, CTCA screening has yet to be proven to improve outcomes in those with asymptomatic CAD, but outcomes of heFH patients have yet to be studied specifically. The purpose of this systematic review is to compile research that compares asymptomatic heFH populations with healthy adults, and determine if CTCA could be warranted in asymptomatic heFH patients. Method: A search of Medline-OVID, Web of Science, and CINAHL with Full Text was conducted using key words: CT angiography/angiography/coronary angiography, familial hypercholesterolemia and asymptomatic/subclinical. Studies were reviewed and included based on relevant criteria. Those relevant articles were assessed using the GRADE system for quality. Results: Three observational studies met inclusion criteria and were included in this systematic review. All three studies showed a significant increase in the number of heFH participants with subclinical CAD as seen on CTCA, with almost one quarter of heFH patients demonstrating severe vessel occlusion.
Conclusion: These studies indicate the heFH patient are more likely to have subclinical coronary atherosclerosis. In order to justify the use of CTCA in asymptomatic heFH patients, further research looking at outcomes of heFH patients diagnosed with early CAD is needed. While CTCA does have the ability to detect which heFH patients have CAD, whether or not this information, when applied to treatment strategies, can reduce risk of CAD and mortality has yet to be determined.
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