Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect

Huang, Chung-Chi; Chiu, Pao-Chin; Liu, Hao-Chuan; Lu, Yung-Hsiu; Huang, Jau‐Ling; Charng, Min‐Ji; Niu, Dau‐Ming

doi:10.1016/j.jacl.2014.11.011

Cited by 10 publications

(5 citation statements)

References 44 publications

(44 reference statements)

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“…Some patients do have the metabolic preconditions such as overweight, diabetes, and cholestatic liver disease. The new onset of metabolic disorders is often caused by the use of immunosuppressant medications such as cyclosporine, tacrolimus, and glucocorticoid which attack the insulin signaling pathway by changing adipose enzymes [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

The Hyperlipidemia Caused by Overuse of Glucocorticoid after Liver Transplantation and the Immune Adjustment Strategy

Meng

Chen

et al. 2017

Journal of Immunology Research

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The overuse of glucocorticoid may cause the metabolic disorders affecting the long term outcome of liver transplantation. This study aims to investigate the immune adjustment strategy by decreasing use of glucocorticoid after liver transplantation. The follow-up study was carried out on liver function and lipid metabolism. This study included adult recipients of liver transplantation. There were 3 groups according to their use of glucocorticoid: long term (>3 months, n = 18), short term (<3 months, n = 20), and control group (no use of glucocorticoid, radical hepatic resection, n = 22). The laboratory results of liver function (AST/ALT ratio) and serum lipid were compared 6 months after liver transplantation. AST/ALT ratio, the marker of liver function, showed no significant difference between long and short term group (P > 0.05). The acute rejection had no significant difference between short and long term groups, while TG, HDL, LDL, and glucose showed significant change in the long term group (P < 0.05). At 6 months after liver transplantation, the long term group showed higher metabolic disorders (P < 0.05). The proper immune adjustment strategy should be made to avoid overuse of glucocorticoid. It can decrease hyperlipidemia and other metabolic disorders after liver transplantation without increasing the acute rejection or liver function damage.

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Section: Discussionmentioning

confidence: 99%

The Hyperlipidemia Caused by Overuse of Glucocorticoid after Liver Transplantation and the Immune Adjustment Strategy

Meng

Chen

et al. 2017

Journal of Immunology Research

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“…5,6 It is well known that children with HoFH may still remain poorly controlled and show progression to atherosclerosis despite an aggressive therapy. 9 Newer lipid modifying drugs such as microsomal triglyceride transfer protein inhibitor (lomitapide), apolipoprotein B inhibitor (mipomersen) and PCSK9 inhibitors (alirocumab, bococizumab, evolocumab) offer promise of further reductions in LDL-C levels in patients with HoFH but are very costly and not available in India at present. 4 Also, due to a variety of reasons, the emphasis on screening and treatment of patients with FH seems to be neglected in India.…”

Section: Discussionmentioning

confidence: 99%

Long-term use of a combination of atorvastatin and ezetimibe in children with homozygous familial hypercholesterolemia

Dayal

Seetharaman

Bhunwal

et al. 2017

Int J Contemp Pediatr

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Background: Homozygous familial hypercholesterolemia (HoFH) is an underdiagnosed and undertreated genetic disorder of lipoprotein metabolism associated with mortality during young age due to accelerated atherosclerosis. There is limited data on the efficacy of lipid lowering therapies in HoFH. Methods: Medical records of 3 children with HoFH who received a combination of atorvastatin and ezetimibe for a mean duration of 11.6±1.5 years were retrospectively analysed. Results: There was a significant decrease in total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C) and triglyceride (TG) from the baseline levels (mean percent change in TC, LDL-C, TG and HDL-C of 58.5%, 56.2%, 67.5% and 29.7% respectively). Conclusions: We conclude that long-term use of a combination of atorvastatin and ezetimibe significantly lowers the plasma LDL-C concentrations in patients with HoFH without causing any significant adverse effects. Ours is the first study from India on long-term use of lipid modifying drug therapy in children with HoFH.

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“…Besides the duration of elevated LDL-C levels (cholesterol-year risk score concept in FH patients), the relationship between LDL-C levels and CV events is also dependent on some other nonlipid risk factors such as age, sex, body mass index (BMI), lifestyle factors, sympathetic nervous system, intrinsic individual differences (which might be detected in the future with genomic analysis) as well as many other more or less well known traditional and non-traditional risk factors [ 7 , 68 , 69 , 70 ].…”

Section: Traditional Risk Factors and CV Risk In Fh Patientsmentioning

confidence: 99%

Risk Assessment and Clinical Management of Children and Adolescents with Heterozygous Familial Hypercholesterolaemia. A Position Paper of the Associations of Preventive Pediatrics of Serbia, Mighty Medic and International Lipid Expert Panel

Bjelaković

Stefanutti

Reiner

et al. 2021

JCM

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Heterozygous familial hypercholesterolaemia (FH) is among the most common genetic metabolic lipid disorders characterised by elevated low-density lipoprotein cholesterol (LDL-C) levels from birth and a significantly higher risk of developing premature atherosclerotic cardiovascular disease. The majority of the current pediatric guidelines for clinical management of children and adolescents with FH does not consider the impact of genetic variations as well as characteristics of vascular phenotype as assessed by recently developed non-invasive imaging techniques. We propose a combined integrated approach of cardiovascular (CV) risk assessment and clinical management of children with FH incorporating current risk assessment profile (LDL-C levels, traditional CV risk factors and familial history) with genetic and non-invasive vascular phenotyping. Based on the existing data on vascular phenotype status, this panel recommends that all children with FH and cIMT ≥0.5 mm should receive lipid lowering therapy irrespective of the presence of CV risk factors, family history and/or LDL-C levels Those children with FH and cIMT ≥0.4 mm should be carefully monitored to initiate lipid lowering management in the most suitable time. Likewise, all genetically confirmed children with FH and LDL-C levels ≥4.1 mmol/L (160 mg/dL), should be treated with lifestyle changes and LLT irrespective of the cIMT, presence of additional RF or family history of CHD

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Clinical observations and treatment of pediatric homozygous familial hypercholesterolemia due to a low-density lipoprotein receptor defect

Cited by 10 publications

References 44 publications

The Hyperlipidemia Caused by Overuse of Glucocorticoid after Liver Transplantation and the Immune Adjustment Strategy

The Hyperlipidemia Caused by Overuse of Glucocorticoid after Liver Transplantation and the Immune Adjustment Strategy

Long-term use of a combination of atorvastatin and ezetimibe in children with homozygous familial hypercholesterolemia

Risk Assessment and Clinical Management of Children and Adolescents with Heterozygous Familial Hypercholesterolaemia. A Position Paper of the Associations of Preventive Pediatrics of Serbia, Mighty Medic and International Lipid Expert Panel

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