Cardiovascular Outcome of Pediatric Patients With Bi-Allelic (Homozygous) Familial Hypercholesterolemia Before and After Initiation of Multimodal Lipid Lowering Therapy Including Lipoprotein Apheresis

Taylan, Christina; Driemeyer, Joenna; Schmitt, Claus Peter; Pape, Lars; Galiano, Matthias; König, Jens; Schürfeld, Carsten; Spitthöver, Ralf; Versen, Axel; Koziolek, Michael; Marsen, Tobias A.; Stein, Holger; Schaefer, Juergen R.; Heibges, Andreas; Klingel, Reinhard; Oh, Jun; Weber, Lutz T.; Klaus, Günter

doi:10.1016/j.amjcard.2020.09.015

Cited by 16 publications

(19 citation statements)

References 26 publications

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“…However, LA has obvious disadvantage that a amount of important substances, such as albumins, immunoglobulins, HDL-C, are removed along with LDL-C, 5 which is only used for patients with poor extracorporeal circulation under 10 years of age. 13–15 In the initial stage, we used LA model to remove excess LDL-C, but serum albumin needed to be supplemented after each blood purification. Meanwhile, other components in plasma, such as immunoglobulin and HDL-C, cannot be replenished in time, which pose a threat to children’s growth and health.…”

Section: Discussionmentioning

confidence: 99%

Difficult Journey to Find the Best Treatment for Homozygous Familial Hypercholesterolemia: Case Report

Chu

Fei

et al. 2022

IMCRJ

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Homozygous familial hypercholesterolemia (HoFH) is a rare autosomal recessive genetic disorder. It is difficult to diagnose and treat it at early stage. We present a nine-year-old boy with HoFH from China. At the beginning, he was misdiagnosed as xanthomatosis in the dermatology department of the local hospital, but the disease did not alleviate after three laser ablation operations. Later, blood lipid monitoring, ultrasound of heart and carotid artery were further added in our hospital, and finally the boy was diagnosed with HoFH by genetic testing. A biallelic mutations was observed in the fourth exon of low density lipoprotein receptor (LDLR): c.418G>A (p.E140K). Our patient achieved a relatively satisfactory therapeutic results after a series of lipid-lowering therapies including atorvastatin monotherapy, lipoprotein apheresis and double-filtration plasma pheresis. We found that LDL-C levels obtained 57% reduction from baseline after atorvastatin combined with double-filtration plasma pheresis (DFPP). It was observed that regression of carotid intima-media thickness (cIMT), valve regurgitation and xanthoma occurred after a series of Intensive lipid-lowering therapy.

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Section: Discussionmentioning

confidence: 99%

Difficult Journey to Find the Best Treatment for Homozygous Familial Hypercholesterolemia: Case Report

Chu

Fei

et al. 2022

IMCRJ

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“…Thus the deposition of macromolecular lipids proteins in the mesangial region may lead to glomerular sclerosis. [ 25 , 26 ] In addition, abnormal lipids metabolism may lead to PNS relapse by affecting the patient’s response to glucocorticoid treatment. [ 27 ]…”

Section: Discussionmentioning

confidence: 99%

Establishment of relapse risk model and multivariate logistic regression analysis on risk factors of relapse in children with primary nephrotic syndrome

et al. 2022

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This study aimed to investigate relapse risk factors in children with primary nephrotic syndrome (PNS) for prevention and early intervention via logistic regression. One hundred thirty-seven children with PNS were enrolled in this study. Clinical variables were analyzed by single-factor and multiple regression analysis to establish the regression equation. The predictive ability of the regression equation was investigated by the receiver operating characteristic curve (ROC). Files of 17 patients were lost, and 120 patients were enrolled finally in the study, among whom 55 cases (45.8%) had frequently relapsed. Single-factor analysis and multiple regression analysis revealed that concurrent infection on first onset, irregular glucocorticoid therapy, severe hypoalbuminemia, and persistent severe hyperlipidemia were the significant risk factors for frequent relapse on PNS (P < .05), among which infection remained to be the main inductive factor. Among the 4 indicators, serum albumin had the best diagnostic efficacy based on the area under the ROC curve (0.933), sensitivity (89.09%), and specificity (81.54%). The area under curve, sensitivity, and specificity for the combined diagnostic model of the 4 indices were 97.8%, 98.18%, and 90.77%, respectively, which had good predictive power for the relapse of patients. Concurrent infection, irregular glucocorticoid therapy, severe hypoalbuminemia, and persistent severe hyperlipemia were all the risk factors for PNS relapse. The established logistic regression model based on these factors above is reliable for predicting frequent PNS relapse. Much attention should be paid to these critical factors, and early intervention should be taken to reduce the incidence of relapse.

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“…It remains to be seen whether it will continue to fulfill those roles or whether the advent of novel LDL‐ and Lp(a)‐lowering compounds will diminish its usefulness, as is already happening with heterozygous FH. Early treatment is vital in homozygotes but can only be achieved in young children by apheresis [27,28], since the use of evolocumab, alirocumab, lomitapide, and evinacumab is currently restricted to those >12 years of age. Similar constraints on drug therapy and reliance upon apheresis apply to FH homozygotes during pregnancy, in whom it plays a vitally important role in controlling their hormonally accentuated hypercholesterolemia [29].…”

Section: Discussionmentioning

confidence: 99%

The scientific basis and future of lipoprotein apheresis

Thompson

2021

Ther Apher Dial

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Lipoprotein apheresis plays a vital role in the management of the severe hyperlipidemias that predispose to atherosclerosis. Determinants of efficacy are the acute reduction in lipoproteins achieved by each apheresis procedure, their frequency, and the fractional catabolic rates and hence pool sizes of low‐density lipoprotein (LDL) or lipoprotein (a) (Lp(a)) of the patient being treated. A useful criterion of the efficacy of apheresis plus lipid‐lowering drug therapy is the decrease in the interval (time‐averaged) mean of serum total or LDL cholesterol or Lp(a) between procedures, expressed as the percent decrease in the interval means below the maximal levels of these lipoproteins when off all treatment. Recent advances in lipid‐lowering drug therapy may diminish the use of lipoprotein apheresis but will not abolish its unique role as a therapeutic “last chance saloon,” especially for children and pregnant women with homozygous familial hypercholesterolemia.

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Cardiovascular Outcome of Pediatric Patients With Bi-Allelic (Homozygous) Familial Hypercholesterolemia Before and After Initiation of Multimodal Lipid Lowering Therapy Including Lipoprotein Apheresis

Cited by 16 publications

References 26 publications

Difficult Journey to Find the Best Treatment for Homozygous Familial Hypercholesterolemia: Case Report

Difficult Journey to Find the Best Treatment for Homozygous Familial Hypercholesterolemia: Case Report

Establishment of relapse risk model and multivariate logistic regression analysis on risk factors of relapse in children with primary nephrotic syndrome

The scientific basis and future of lipoprotein apheresis

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