Quantitative 3T MR imaging of the descending thoracic aorta: patients with familial hypercholesterolemia have an increased aortic plaque burden despite long-term lipid-lowering therapy. | LitMetric
Imaging Sciences Department, MRC Clinical Sciences Centre, Imperial College, Hammersmith Hospital Campus, Du Cane Rd, London, W12 0NN England.
Published: October 2008
AI Article Synopsis
Article Abstract
Purpose: To compare the aortic plaque burden in patients with heterozygous familial hypercholesterolemia on long-term statin treatment with that of matched control subjects.
Materials And Methods: The authors studied 11 heterozygous, nonsmoking, nondiabetic, and nonhypertensive patients with familial hypercholesterolemia (mean age, 44 years +/- 10) who had been receiving cholesterol-lowering management for a mean of 12 years +/- 5, including 8.25 years +/- 4.24 with the highest tolerable doses of a statin (or a statin plus ezetimibe), and 26 age- and sex-matched control subjects with 3T magnetic resonance (MR) imaging of the descending thoracic aorta by using an axial T2-weighted turbo spin-echo sequence.
Results: Quantitative analysis demonstrated that the aortic vessel wall area was significantly larger in patients with familial hypercholesterolemia than in control subjects (123 mm(2) +/- 23 vs 102 mm(2) +/- 18, respectively; P < .007), as was vessel wall thickness (1.63 mm +/- 0.28 vs 1.37 mm +/- 0.16, respectively; P < .001). No significant difference was found between mean values of routine serum lipid and lipoprotein parameters.
Conclusions: The results of this preliminary study show that patients with heterozygous familial hypercholesterolemia have a higher aortic atherosclerotic plaque burden than control subjects at quantitative MR imaging despite long-term lipid-lowering therapy. This information may help design future studies evaluating plaque burden and cardiovascular risk.
Familial hypercholesterolemia (FH) is less rare than one might think and, despite highly effective lipid-lowering therapies (LLT), more than half of the patients treated do not reach the lipid target indicated by the guidelines. In these patients, lipoprotein apheresis (LA) is the most effective tool to lowering apo-B containing atherogenic lipoproteins. In own center, since 1994, thanks to routinely cascade testing performed in patients who start LA, we have identified a pediatric population (30 subjects) that we analyzed retrospectively.
Cerebrotendinous xanthomatosis (CTX) is a rare but treatable inherited neurometabolic disorder that can lead to severe sequelae if left untreated. Chenodeoxycholic acid is a safe and effective treatment for CTX. Early diagnosis is essential to improve patient outcomes.
Familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein cholesterol levels due to genetic mutations, presenting with xanthomas, corneal arch, and severe cardiovascular diseases. Early identification, diagnosis, and treatment are crucial to prevent severe complications like acute myocardial infarction. Statins are the primary treatment, supplemented by Ezetimibe and proprotein convertase subtilisin/kexin type 9 inhibitors, though their effectiveness can be limited in severe cases.
Background: Familial hypercholesterolemia (FH) is a genetically inherited disorder caused by monogenic mutations or polygenic deleterious variants. Patients with FH innate with significantly elevated risks for coronary heart disease (CHD). FH prevalence based on genetic testing in Chinese CHD patients is missing.
Background And Aims: Homozygous familial hypercholesterolemia (HoFH) is a hereditary lipid metabolism disorder characterized by severe elevation of low-density lipoprotein cholesterol (LDL-C) and heightened risk of premature atherosclerotic cardiovascular disease (ASCVD). Lomitapide, an inhibitor of microsomal triglyceride transfer protein, has shown promise in reducing LDL-C levels, albeit with variable response in real-world settings. Sex-based differences in treatment efficacy and safety remain unclear.
