Modern Approaches to the Treatment of Homozygous Familial Hypercholesterolemia

Леонтьева, И. В.

doi:10.21508/1027-4065-2017-62-4-71-80

Ross. vestn. perinatol. pediatr.

2017

DOI: 10.21508/1027-4065-2017-62-4-71-80

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Modern Approaches to the Treatment of Homozygous Familial Hypercholesterolemia

И. В. Леонтьева¹

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Cited by 2 publications

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Estimation of the Thickness of the Intima-Media Complex in Children With Familial Hypercholesterolemia

Садыкова

Галимова

Леонтьева

et al. 2018

Ross. vestn. perinatol. pediatr.

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Objective:to evaluate the diagnostic significance of measuring the thickness of the intima-media complex (IMC) in children with autosomal dominant familial hypercholesterolemia for early diagnostics and prompt treatment of atherosclerosis.Materials and methods.The study included 109 children – 64 children with familial hypercholesterolemia and 45 healthy children. Both groups were divided into 2 subgroups according to the age – from 3 to 8 years and from 9 to 18 years. We measured the intimamedia thickness (IMT) of the common carotid artery in all the children. To evaluate IMT we used an ultrasound scanner HD11XE (Philips, USA) with a linear (3–12MHz) sensor IMT.Results.We found a statistically significant difference (p=0.012) of the IMT of the common carotid artery in children with familial hypercholesterolemia (0.61 ± 0.02 mm) in comparison with the control group (0.49±0.02 mm), starting from the age of 9 years. There were no sex differences of IMT in patients older than 9 years.Conclusion.We found that children with familial hypercholesterolemia have higher values of IMT already from the age of 9 as compared with healthy children; the increase in TCIM is an additional criterion for the early diagnostics of atherosclerosis and evaluation of cardiovascular risk. These results emphasize the relevance of lipid-lowering therapy for patients with familial hypercholesterolemia in childhood, before the first signs of atherosclerosis appear.

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Estimation of the Thickness of the Intima-Media Complex in Children With Familial Hypercholesterolemia

Садыкова

Галимова

Леонтьева

et al. 2018

Ross. vestn. perinatol. pediatr.

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Familial homozygous hypercholesterolemia in children: early diagnosis and treatment

Леонтьева

2021

Ross. vestn. perinatol. pediatr.

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Familial homozygous hypercholesterolemia is a rare life-threatening disease, the prevalence is 1: 160,000-1: 320,000. The main manifestation of the disease is an extremely high level of low-density lipoprotein cholesterol (more than 13 mmol / l), which causes early atherosclerotic vascular lesions, including coronary arteries, starting from the first decade of life, and can lead to myocardial infarction in childhood. Familial homozygous hypercholesterolemia remains a little-known disease in the clinical practice of the pediatrician; it leads to delayed diagnosis and late initiation of therapy. The most common cause of the disease is mutations in the LDLR (90%) gene, less often in the APOB (5–10%), PCSK9 (1%), LDLRAP1 (1%) genes. The article presents the criteria for the diagnosis of familial homozygous hypercholesterolemia in children. The authors discuss clinical manifestations on the skin and at the level of the cardiovascular system, eyes. They present the strategy of management and the possibilities of treating patients. The paper presents the indications for the appointment and the effectiveness of statins, ezetrol, monoclonal antibodies to PCSK9, apheresis for the treatment of the disease. It discusses prospects for further therapy.

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Modern Approaches to the Treatment of Homozygous Familial Hypercholesterolemia

Cited by 2 publications

References 32 publications

Estimation of the Thickness of the Intima-Media Complex in Children With Familial Hypercholesterolemia

Estimation of the Thickness of the Intima-Media Complex in Children With Familial Hypercholesterolemia

Familial homozygous hypercholesterolemia in children: early diagnosis and treatment

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