Abstract
Objective: The higher risk and fatality of cardiovascular disease in subjects with homozygous familial hypercholesterolemia warrants early screening. Computed tomography angiography is the most promising method at present as a reliable and reproducible noninvasive diagnostic test of cardiovascular disease. We aimed to describe the 64-slice multidetector computed tomography coronary angiography findings of new cases with homozygous familial hypercholesterolemia. Methods: Four patients with homozygous familial hypercholesterolemia (2 female and 2 male) with mean age of 23 ± 9 years were included. Mean plasma total and LDL cholesterol were 654 ± 75 mg/dl and 609 ± 76 mg/dl. Tomography examinations were performed using a 64-row MDCT-CA system (Brilliance Computed Tomography scanner, Philips Healthcare). Results: All patients presented calcified and mixed atherosclerotic plaques in the ascending aorta near the origin of the coronary arteries. More extensive atherosclerosis was found in Case 1 and Case 2 than in other cases. Case 3 has mild atherosclerosis and Case 4 had normal coronaries but plaques in aorta. In addition, we detected myocardial bridging in left anterior descending artery of 2 cases, calcified plaques in postero-lateral branch artery, and calcification in non-coronary sinus in others. Conclusion: Multidetector computed tomography coronary angiography is a useful, non-invasive tool for detecting early aortic and coronary atherosclerosis in homozygous familial hypercholesterolemia subjects and may be the choice of imaging for most of such subjects.
Highlights
IntroductionFamilial hypercholesterolemia is an autosomal codominant inherited disease characterized by lack of functional receptors for low density lipoproteins (LDL) on cell surface in liver and peripheral tissues; as a result of LDL receptor mutations, Ref. [1] elevated plasma cholesterol levels and premature atherosclerosis
We aimed to describe the 64-slice multidetector computed tomography coronary angiography findings of new cases with homozygous familial hypercholesterolemia
Familial hypercholesterolemia is an autosomal codominant inherited disease characterized by lack of functional receptors for low density lipoproteins (LDL) on cell surface in liver and peripheral tissues; as a result of LDL receptor mutations, Ref. [1] elevated plasma cholesterol levels and premature atherosclerosis
Summary
Familial hypercholesterolemia is an autosomal codominant inherited disease characterized by lack of functional receptors for low density lipoproteins (LDL) on cell surface in liver and peripheral tissues; as a result of LDL receptor mutations, Ref. [1] elevated plasma cholesterol levels and premature atherosclerosis. [1] elevated plasma cholesterol levels and premature atherosclerosis. Patients with homozygous familial hypercholesterolemia (hmzFH) develop cutaneous xanthomas in childhood [1,4,5]. The higher risk and fatality of cardiovascular disease (CVD) in subjects with hmzFH warrants [4,5,6,7] early screening of CVD in childhood. Coronary artery calcifycation on electron beam tomography was found to be increased in familial hypercholesterolemia subjects [2,3]. The first results of non-invasive angiography with 64 rows multiple detector row computed tomogramphy in 5 patients with hmzFH for non-invasive early detection of atherosclerosis was published [8].
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