Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: Data from an international registry

Luirink, Ilse K.; Hutten, Barbara A.; Greber‐Platzer, Susanne; Kolovou, Genovefa; Dann, Eldad J.; Ferranti, Sarah D. de; Taylan, Christina; Bruckert, Éric; Saheb, Samir; Oh, Jun; Driemeyer, Joenna; Farnier, Michel; Pape, Lars; Schmitt, Claus Peter; Nóvoa, Francisco J.; Maeser, Martin; Shahrani, Abdullah Al; Wiegman, Albert; Groothoff, Jaap W.

doi:10.1016/j.atherosclerosis.2020.01.031

Cited by 27 publications

(21 citation statements)

References 15 publications

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“…Finally, early detection programs and the clinical availability of novel therapeutic strategies are urgently needed to address the needs of all HoFH patients. Developing specific guidelines and international patient registries on LT for HoFH might be beneficial, following the example of the research group, who have made the International Registry on Lipoprotein Apheresis in Children with Homozygous Familial Hypercholesterolemia ( 72 ).…”

Section: Discussionmentioning

confidence: 99%

Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH)—Long-Term Follow-Up of a Patient and Literature Review

et al. 2020

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Homozygous familial hypercholesterolemia (HoFH) is a rare inherited metabolic disorder, frequently leading to an early cardiovascular death if not adequately treated. Since standard medications usually fail to reduce LDL-cholesterol (LDL-C) levels satisfactorily, LDL-apheresis is a mainstay of managing HoFH patients but, at the same time, very burdensome and suboptimally effective. Liver transplantation (LT) has been previously shown to be a promising alternative. We report on a 14 year-long follow-up after LT in a HoFH patient. At the age of 4, the patient was referred to our institution because of the gradually increasing number of xanthomas on the knees, elbows, buttocks, and later the homozygous mutation c.1754T>C (p.Ile585Thr) on the LDL-receptor gene was confirmed. Despite subsequent intensive treatment with the combination of diet, statins, bile acid sequestrant, probucol, and LDL-apheresis, the patient developed valvular aortic stenosis and aortic regurgitation by 12 years. At 16 years, the patient successfully underwent deceased-donor orthotopic LT. Nine years post-LT, we found total regression of the cutaneous xanthomas and atherosclerotic plaques and with normal endothelial function. Fourteen years post-LT, his clinical condition remained stable, but LDL-C levels have progressively risen. In addition, a systematic review of the literature and guidelines on the LT for HoFH patients was performed. Six of the 17 identified guidelines did not take LT as a treatment option in consideration at all. But still the majority of guidelines suggest LT as an exceptional therapeutic option or as the last resort option when all the other treatment options are inadequate or not tolerated. Most of the observed patients had some kind of cardiovascular disease before the LT. In 76% of LT, the cardiovascular burden did not progress after LT. According to our experience and in several other reported cases, the LDL-C levels are slowly increasing over time post LT. Most of the follow-up data were short termed; only a few case reports have followed patients for 10 or more years after LT. LT is a feasible therapeutic option for HoFH patients, reversing atherosclerotic changes uncontrollable by conservative therapy, thus importantly improving the HoFH patient's prognosis and quality of life.

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Section: Discussionmentioning

confidence: 99%

Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH)—Long-Term Follow-Up of a Patient and Literature Review

et al. 2020

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“…Lipoprotein apheresis directly removes LDL from plasma through selective absorption or filtration of LDL using an extra-corporal circulation system, and this has been the core therapy for HoFH to date [51][52][53] . LDL-C levels can be precisely decreased by this procedure, depending upon the treated plasma volume, when properly performed.…”

Section: Future Perspectivesmentioning

confidence: 99%

Homozygous Familial Hypercholesterolemia

Nohara

Tada

Ogura

et al. 2021

JAT

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Early diagnosis and initiation of lipid-lowering therapy is essential for preventing development of cardiovascular complications, even in Japan where cardiovascular disease is not the leading cause of death and its prevalence among FH patients seems to be somewhat lower than in Western countries. Heterozygous FH (HeFH) patients who carry the mutated gene in a single allele have plasma LDL cholesterol (LDL-C) levels double normal or higher and may experience the first cardiovascular event as

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“…It also enables physicians to increase the blood-flow and reduce treatment time. However, AV shunts are known to produce a wide range of serious side effects leading even to severe adverse events [ 72 •]. A possible explanation for the concern for AV shunt use among cardiologists is the associated increased cardiac output and dilatation of all cardiac chambers [ 73 , 74 ].…”

Section: Lipoprotein Apheresismentioning

confidence: 99%

“…The average LDL-C can be lowered by increasing the frequency of LA to at least once per week and/or increasing the plasma volume processed. Long-term follow-up data on the effect on ASCVD or surrogate markers for ASCVD in combination with quality-of-life assessment must provide evidence for the need of further optimization/customization of LA treatment [ 72 ].…”

Section: Lipoprotein Apheresismentioning

confidence: 99%

Current Approach to the Diagnosis and Treatment of Heterozygote and Homozygous FH Children and Adolescents

Cohen

Stefanutti²

2021

Curr Atheroscler Rep

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Purpose of Review To elucidate the current approach of care in pediatric patients with familial hypercholesterolemia (FH). We sought an answer to the question whether the advances and major changes in lipid management are relevant and apply to children and adolescents. Recent Findings Latest research findings clearly demonstrate that lowering cholesterol levels at a young age prevents vascular atherosclerotic changes and decreases cardiovascular events in adulthood and emphasizes the importance of early detection and intervention in the pediatric FH patients group. Summary FH is a common genetic disease caused by mutations in genes associated with the metabolism of low-density lipoproteins (LDL). The hallmark of FH is elevated LDL cholesterol (LDL-C) levels from birth and premature atherosclerotic cardiovascular disease (ASCVD). Often FH is either undiagnosed or diagnosed with a considerable delay, leading to vascular atherosclerotic changes and cardiovascular disease. Prompt identification of FH subjects is essential, to initiate early preventive measures. Safe and efficient pharmacological agents are approved for use in children and adolescents. Statins are the first line of therapy, in combination of ezetimibe. Unfortunately, these drugs do not warrant the achievement of therapeutic target, especially in HoFH patient. In the latter, lipoprotein apheresis (LA), which has been shown to be safe and effective, is strongly recommended. Finally, the new drugs still under study will allow a multimodal customized treatment. Lowering cholesterol levels at a young age hinders vascular atherosclerotic changes decreasing cardiovascular events in adulthood. Therefore, early detection, diagnosis, and intervention in FH patients are priority objectives.

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Practice of lipoprotein apheresis and short-term efficacy in children with homozygous familial hypercholesterolemia: Data from an international registry

Cited by 27 publications

References 15 publications

Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH)—Long-Term Follow-Up of a Patient and Literature Review

Case Report: Liver Transplantation in Homozygous Familial Hypercholesterolemia (HoFH)—Long-Term Follow-Up of a Patient and Literature Review

Homozygous Familial Hypercholesterolemia

Current Approach to the Diagnosis and Treatment of Heterozygote and Homozygous FH Children and Adolescents

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