Abstract
Familial hypercholesterolemia (FH) is the most common monogenic autosomal dominant disorder. FH results in an increased cardiovascular mortality rate. However, cardiovascular risk control factors enable the avoidance of approximately 80% of strokes and cardiovascular diseases. Therefore, early detection and implementation of lipid-lowering treatment is essential. In the present study, 57 pediatric patients aged 9.57 ± 3.26 years with FH were enrolled in the study. Researchers checked the lipid profile and performed the ultrasound imaging including intima-media thickness (IMT) measurement and echo (e)-tracking in the study group. Patients were treated with a low-cholesterol diet solely or along with pharmacological treatment with statins. Subsequently, patients were monitored for 12 months. The positive results of dietary treatment were observed in 40 patients. The efficacy of 12 months of nutritional therapy along with pharmacological treatment was reported in 27 patients. We observed a significant decrease in the carotid beta index stiffness and an insignificant decrease in the IMT in the group of patients treated with statins. The obtained data show that statin therapy in children with FH allow for the reduction of the degree of atherosclerotic vessel changes.
Highlights
Familial hypercholesterolemia (FH) is the most common monogenic autosomal dominant disorder caused by genetic alterations in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB)or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes
The highest deviation from total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) reference norms in patients under 6 years old were observed, whereas the lowest deviation was reported in children between 6 and 10 years old
The most common cause of cardiovascular diseases is atherosclerosis, which continues to develop from early childhood in patients with lipid disorders [19]
Summary
Familial hypercholesterolemia (FH) is the most common monogenic autosomal dominant disorder caused by genetic alterations in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB)or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. Familial hypercholesterolemia (FH) is the most common monogenic autosomal dominant disorder caused by genetic alterations in the low-density lipoprotein receptor (LDLR), apolipoprotein B (APOB). It is estimated that the cardiovascular (CV) mortality rate for a group of FH patients between the ages of 20 and 39 years is 100 times higher than in the general population [1]. A family medical history of hypercholesterolemia and premature CV disease (before the ages 50–60 years) may be helpful in disease diagnosis, and this indicates the necessity of lipid profile assessment. In children with a (1) low-density lipoprotein cholesterol (LDL-C) level >190 mg/dL (4.9 mmol/L), (2) a family history and LDL-C >160 mg/dL (4.1 mmol/L), or (3) parents with FH and a LDL-C >130 mg/dL (3.4 mmol/L), FH can be diagnosed [4]. A definitive diagnosis can only be provided by molecular genetic testing [1]
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