International Developments in the Care of Familial Hypercholesterolemia: Where Now and Where to Next?

Pang, Jing; Lansberg, Peter; Watts, Gerald F.

doi:10.5551/jat.34108

Cited by 30 publications

(16 citation statements)

References 113 publications

(68 reference statements)

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“…Current knowledge and praCtiCe. Registries facilitate research and education and lead to better health outcomes for patients (112). Several FH registries have been established or are in development (111,(113)(114)(115)(116)(117)(118)(119)(120).…”

Section: Registries and Codificationmentioning

confidence: 99%

Knowns and unknowns in the care of pediatric familial hypercholesterolemia

Martin

Gidding

Wiegman

et al. 2017

Journal of Lipid Research

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Familial hypercholesterolemia (FH) is a common genetic disorder that causes elevated LDL cholesterol levels from birth. Untreated FH accelerates atherosclerosis and predisposes individuals to premature coronary artery disease (CAD) in adulthood. Mendelian randomization studies have demonstrated that LDL cholesterol has both a causal and cumulative effect on the risk of CAD. This supports clinical recommendations that children with FH commence pharmacological treatment from the age of 8 to 10 years, to reduce the burden of hypercholesterolemia. Worldwide, the majority of children with FH remain undiagnosed. Recent evidence suggests that the frequency of FH is at least 1 in 250 and this constitutes a public health issue. We review and identify the knowns and unknowns concerning the detection and management of pediatric FH that impact on the developing model of care for this condition.

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Section: Registries and Codificationmentioning

confidence: 99%

Knowns and unknowns in the care of pediatric familial hypercholesterolemia

Martin

Gidding

Wiegman

et al. 2017

Journal of Lipid Research

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“…The prevalence of heterozygous FH has been traditionally estimated to be one case out of 500 individuals. Recently, however, it has been found that this figure is too conservative, the new estimation for the prevalence of heterozygous FH (he-FH) being one out of 200-250 persons [15][16][17][18].…”

Section: Fh Genotype and Phenotypementioning

confidence: 99%

Lipoprotein(a) as a risk factor for calcific aortic valvulopathy in heterozygous familial hypercholesterolemia

2019

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“…Ongoing observational studies will help elucidate geographic/epidemiological differences that may impact optimal management of HoFH, including screening, in different regions. 9, 10) .…”

Section: Introductionmentioning

confidence: 99%

Efficacy and Safety of Lomitapide in Japanese Patients with Homozygous Familial Hypercholesterolemia

Harada‐Shiba

Ikewaki

Nohara

et al. 2017

JAT

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Aim: There is an unmet need in Japan for more optimal lipid-lowering therapy (LLT) for patients with homozygous familial hypercholesterolemia (HoFH) who respond inadequately to available drug therapies and/or apheresis, to achieve goals of low-density lipoprotein cholesterol (LDL-C) reduction by 50% or to < 100 mg/dL.Methods: In this study, Japanese patients with HoFH on stable LLT and diet were treated with lomitapide, initiated at 5 mg/day and escalated to maximum tolerated dose (up to 60 mg/day) over 14 weeks. The primary efficacy endpoint was mean percentage change from baseline to Week 26 in LDL-C. Secondary endpoints included changes in other lipid parameters and safety throughout the 56-week study (including follow-up).Results: Nine patients entered the efficacy phase of the study and, of these, eight completed 56 weeks. Mean LDL-C was reduced by 42% (p < 0.0001) at 26 weeks, from 199 mg/dL (95% CI: 149–250) at baseline to 118 mg/dL (95% CI: 70–166). A 50% reduction in LDL-C and LDL-C < 100 mg/dL was achieved by five and six of nine patients, respectively, at 26 weeks. After 56 weeks, LDL-C was reduced by 38% (p = 0.0032) from baseline. Significant reductions in non-HDL-C, VLDL-C, triglycerides, and apolipoprotein B were also reported at Week 26. There were no new safety signals and, similar to previous studies, gastrointestinal adverse events were the most common adverse events.Conclusion: Lomitapide, added to ongoing treatment with other LLTs, was effective in rapidly and significantly reducing the levels of LDL-C and other atherogenic apolipoprotein B-containing lipoproteins in adult Japanese patients with HoFH.

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International Developments in the Care of Familial Hypercholesterolemia: Where Now and Where to Next?

Cited by 30 publications

References 113 publications

Knowns and unknowns in the care of pediatric familial hypercholesterolemia

Knowns and unknowns in the care of pediatric familial hypercholesterolemia

Lipoprotein(a) as a risk factor for calcific aortic valvulopathy in heterozygous familial hypercholesterolemia

Efficacy and Safety of Lomitapide in Japanese Patients with Homozygous Familial Hypercholesterolemia

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