scholarly journals Diagnostic Characteristics of Familial Hypercholesterolemia in Children

2020 ◽  
Vol 17 (2) ◽  
pp. 124-128
Author(s):  
Dinara I. Sadykova ◽  
Liliia F. Galimova ◽  
Eugenia S. Slastnikova
Keyword(s):  
Familial Hypercholesterolemia ◽  
Autosomal Dominant ◽  
Low Density Lipoproteins ◽  
Screening Methods ◽  
Low Density ◽  
Concentration Increase ◽  
Cardiovascular Pathology ◽  
Diagnostic Characteristics ◽  
Optimal Period ◽  
Diagnostics And Therapy

Familial hypercholesterolemia is autosomal dominant hereditary disorder developing in in humans since birth and it is characterized by low-density lipoproteins concentration increase in blood. Lack of timely diagnostics and therapy for familial hypercholesterolemia is associated with early development of atherosclerosis, cardiovascular pathology and mortality in first 30–40 days of life. Despite the fact that the optimal period for revealing of disease is childhood, diagnostics of the disease has extremely low quality among children. The article presents screening methods and criteria of familial hypercholesterolemia diagnostics among children.

Adsorption of Lipoprotein Containing Apolipoprotein-B through Plasma Separation for Treatment of Familial Hypercholesterolemia

1986 ◽  
Vol 9 (5) ◽  
pp. 343-348 ◽  
Author(s):  
M. Odaka ◽  
H. Kobayashi ◽  
K. Soeda ◽  
N. Murotani ◽  
Y. Saito ◽  
...  
Keyword(s):  
Total Cholesterol ◽  
Adsorption Capacity ◽  
Familial Hypercholesterolemia ◽  
Apolipoprotein B ◽  
Clinical Results ◽  
Low Density Lipoproteins ◽  
Low Density ◽  
Very Low Density Lipoproteins ◽  
Affinity Adsorbent ◽  
Excellent Selectivity

For the treatment of familial hypercholesterolemia, Liposorber LA-40 was clinically applied. The Liposorber is a commercially developed affinity adsorbent for plasma perfusion which selectivily adsorbs low density lipoproteins and very low density lipoproteins and is specially designed for plasmapheretic treatment of hypercholesterolemia. The Liposorber column, containing activated cellulose beads having an affinity for liporpotein containing apolipoprotein-B, has an excellent adsorption capacity, excellent selectivity, minimum albumin loss. This new apheresis system was applied to 2 clinical cases. After seven months of trial perfusion every 2 weeks, patient condition was good, with a level of total cholesterol under 300 mg/dl. No replacement fluids were given during or after treatment. In this paper, clinical results of these patients were shown and the mechanism of adsorption of this specific adsorbent was discussed.

scholarly journals Clinical case of myocardial infarction with unspecified familial hypercholesterolemia

2022 ◽  
Vol 17 (4) ◽  
pp. 74-78
Author(s):  
N. G. Lozhkina ◽  
A. N. Spiridonov
Keyword(s):  
Myocardial Infarction ◽  
Familial Hypercholesterolemia ◽  
Clinical Case ◽  
Autosomal Dominant ◽  
Clinical Symptoms ◽  
Cholesterol Metabolism ◽  
Single Gene ◽  
Low Density Lipoproteins ◽  
Dominant Disease ◽  
Appropriate Therapy

Familial hypercholesterolemia is a hereditary autosomal dominant disease characterized by a violation of cholesterol metabolism. This nosology was first described in the late 1930s by the Norwegian clinician Karl Moeller, he proposed the idea that hypercholesterolemia and tendon xanthomas are associated with cardiovascular diseases through the inheritance of a single gene. In 1964, two clinical phenotypes of familial hypercholesterolemia were discovered: heterozygous and homozygous, associated with an unfavorable prognosis. To date, it is known that the long-running process of accumulation of low-density lipoproteins in the intima of blood vessels may not have clinical symptoms for many years due to the developed system of collaterals and the absence of hemodynamically significant stenosis. However, without timely diagnosis and appropriate therapy, this condition inevitably leads to the development of a cardiovascular event. The article presents a clinical case demonstrating the development of myocardial infarction in a patient with a late diagnosis of this disease.

ESSENTIAL FAMILIAL HYPERCHOLESTEROLEMIA WITH XANTHOMATOSIS

PEDIATRICS ◽  
1969 ◽  
Vol 43 (3) ◽  
pp. 455-459
Author(s):  
Fernand Hould ◽  
Roland Leclerc ◽  
Jean Marcoux
Keyword(s):  
Familial Hypercholesterolemia ◽  
Low Density Lipoproteins ◽  
Low Density ◽  
Lipid Components

Hyperbetalipoproteinemia, a syndrome characterized by an increased level of low density lipoproteins and their associated lipid components, is frequently manifested externally by xantholasma and xanthomata tendinosum and/or xanthoma tuberosum. A large kindred of 57 living members was extensively investigated and is described in detail in view of the rarity of such observations. Concerning the inheritance of such familial hypercholesterolemia, this study lends support to Wilkinson's views suggesting that severe generalized xanthomatosis is evidence of homozygosity.

Determination of high-density lipoproteins: screening methods compared.

1979 ◽  
Vol 25 (6) ◽  
pp. 939-942 ◽  
Author(s):  
G M Kostner ◽  
P Avogaro ◽  
G B Bon ◽  
G Cazzolato ◽  
G B Quinci
Keyword(s):  
Dextran Sulfate ◽  
Screening Program ◽  
Low Density Lipoproteins ◽  
High Density ◽  
High Density Lipoproteins ◽  
Total Serum ◽  
Screening Methods ◽  
Low Density ◽  
Apolipoprotein A ◽  
Immunochemical Quantitation

Abstract Factors reflecting the concentration of high-density lipoproteins in serum were assessed for 108 men and 106 women participating in a Venetian screening program for hyperlipoproteinemia. The methods applied, optimized in our laboratory, were: (a) cholesterol in high-density lipoproteins, determined in the supernate after sedimentation of the very-low-density lipoproteins + low-density lipoproteins with dextran sulfate or sodium phosphotungstate; and (b) immunochemical quantitation of apolipoprotein A-I and apolipoprotein A-II by Laurell's "rocket" technique. The latter determinations were performed with total serum before and after delipidation with diispropyl ether/n-butanol (6/4 by vol). The dextran sulfate method gave about 5% higher values than did the phosphotungstate method, but the correlation between the two was excellent (r = 0.95). Results of the immunochemical quantitation indicate that delipidation of lipoproteins before Laurell electrophoresis may not be necessary if only freshly drawn sera are used.

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