Familial Hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

Hopkins, Paul N.; Tóth, Peter P.; Ballantyne, Christie M.; Rader, Daniel J.

doi:10.1016/j.jacl.2011.03.452

Cited by 313 publications

(259 citation statements)

References 64 publications

Supporting

Mentioning

227

Contrasting

Unclassified

Order By: Relevance

“…Patients with ATT of 9 mm or more on radiography should be regarded as having tendon xanthomas. 13) International consensus criteria for the clinical diagnosis of FH are lacking, although 3 well-known clinical diagnostic criteria have been proposed; the US MedPed (Make Early Diagnosis To Prevent Early Death) program, [14][15][16] Simon Broome Register Group in the UK, 17,18) and Dutch Lipid Clinic Network. 4,5,19) The Japan Atherosclerosis Society (JAS) proposed simple but high specificity criteria for the diagnosis of heterozygous FH in 2012.…”

Section: Prevalence Of Heterozygous Fh In Acsmentioning

confidence: 99%

Estimated Prevalence of Heterozygous Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

et al. 2017

View full text Add to dashboard Cite

SummaryHeterozygous familial hypercholesterolemia (FH) represents a strong risk for development of premature coronary artery disease (CAD). However, the majority of patients with FH are undiagnosed and the prevalence likely represents an underestimate in most countries. In Japan, the possible contribution of FH to the development of CAD may be higher because of the low incidence of CAD among the general population. We estimated the prevalence of heterozygous FH by measuring Achilles tendon thickness (ATT) in patients with acute coronary syndrome (ACS).A total of 359 patients suffering from ACS were enrolled in this multicenter registration study. Heterozygous FH was defined according to the diagnostic criteria proposed by the Japan Atherosclerosis Society. After excluding 63 patients because of missing ATT data or plasma triglyceride levels that were 4.5 mmol/L or more, 296 patients were eligible for inclusion in the study. The number of patients with ATT of 9 mm or more was 53 (17.9%). They were significantly younger and had significantly higher LDL cholesterol levels than patients with an ATT less than 9 mm. The prevalence of heterozygous FH was 5.7% (1/17.5) and more prominent in younger patients who were less than 60 years old (7.8%). In patients with ATT of 9 mm or more, approximately 1 in 3.5 fulfilled the criteria for heterozygous FH.We demonstrated the usefulness of measuring ATT by radiography and the high prevalence of heterozygous FH in patients with ACS in Japan, especially in younger patients who were less than 60 years old. (Int Heart J 2017; 58: 88-94)

show abstract

Section: Prevalence Of Heterozygous Fh In Acsmentioning

confidence: 99%

Estimated Prevalence of Heterozygous Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

et al. 2017

View full text Add to dashboard Cite

show abstract

“…Patients with FH older than 30 years of age often have an LDL-C level of 250 milligrams per deciliter (mg/dL) or higher; patients between 20 and 29 years of age often have an LDL-C level of 220 mg/dL or higher; and those younger than 20 often have an LDL-C level of 190 mg/dL or higher. 1 Patients with FH may have thickening of the tendons called tendon xanthomas. Because FH is primarily an autosomal dominant disorder, family members of a person with FH may manifest a bimodal distribution of LDL-C. 1 FH is a disorder of LDL-C metabolism and may be the most common serious genetic disorder, with an estimated 620,000 individuals affected in the United States.…”

mentioning

confidence: 99%

Management of Familial Hypercholesterolemia: A Review of the Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

Robinson

2013

JMCP

View full text Add to dashboard Cite

suMMaRyFamilial hypercholesterolemia (FH) is a genetic disorder of lipid metabolism that is characterized by a significant elevation in levels of low-density lipoprotein cholesterol (LDL-C), and patients are at very high risk for premature coronary heart disease (CHD). The etiology of FH includes known mutations in the gene of the LDL receptor, LDLR ; the gene of apolipoprotein B, apo B ; and the proprotein convertase subtilisin/kexin type 9 gene, PCSK9. The National Lipid Association Expert Panel on Familial Hypercholesterolemia has provided recommendations for the screening and treatment of patients with FH. Early identification and aggressive treatment of FH in individual patients, as well as screening of all first-degree relatives, are recommended to minimize the risk for premature CHD. Similar to patients with conventional hypercholesterolemia, patients with FH should receive statins as initial treatment, but patients with FH may require higher doses of statins, more potent statins, statin-based combination therapy, or adjunctive therapies. Patients with FH who have additional risk factors for, or existing, cardiovascular disease or those with an inadequate response to initial statin therapy should have access to higher doses of the most efficacious statins; statins used in combination with other LDL-C-lowering agents should also be supported by formularies; additional treatments, such as LDL-C apheresis or novel therapies, may also be required to achieve acceptable LDL-C levels. New treatment approaches include mipomersen, which was approved by the FDA in January 2013. Mipomersen is an oligonucleotide inhibitor of apolipoprotein B-100 synthesis (called an antisense inhibitor) indicated as an adjunct to lipid-lowering medications and diet to reduce LDL-C, apolipoprotein B, total cholesterol, and non-high density lipoproteincholesterol (non-HDL-C) levels in patients with homozygous FH (HoFH). The microsomal transfer protein lomitapide has also received FDA approval for use only in patients with HoFH. Other novel treatments currently in development include PCSK9 inhibitors. Therapies such as apheresis are likely more expensive than simple therapy with a statin but may be needed to achieve long-term reductions in complications from nonfatal and fatal cardiovascular events and hospitalizations related to myocardial infarction, cardiac revascularization, and stroke in FH patients. The cost-effectiveness of this more aggressive therapy has not been determined and should be studied. Utilization of published guidelines and the recommendations from the National Lipid Association will help to optimize the management of patients with FH.

show abstract

“…Familial Hypercholesterolemia (FH) is characterized by cholesterol deposition and premature atherosclerosis due to genetically defective low density lipoprotein (LDL) receptors (1,2).…”

Section: Introductionmentioning

confidence: 99%

“…Severe osteal coronary artery disease (CAD) and aortic stenosis (AS) develop starting from early childhood due to lifelong exposure to elevated cholesterol (1,2). Antilipid medications remain ineffective in HoFH due to absent or defective LDL-receptors.…”

Section: Introductionmentioning

confidence: 99%

Homozigot ailevi hiperkolesterolemi olgusunda uzun dönem izlem: LDL aferezi ve tedavide yaşanan sorunlar

Can¹,

Kayıkçıoğlu²,

Bayraktar³

et al. 2017

Ege Tıp Dergisi

View full text Add to dashboard Cite

Familial Hypercholesterolemia (FH) is a genetic disease characterized by extremely high levels of cholesterol leading to cholesterol deposition in skin and tissues and premature atherosclerosis due to defective LDL-receptors. In homozygous individuals (HoFH) cardiovascular events could develop from childhood on. HoFH case reports from our country generally describe the success of the treatments of LDL apheresis or cardiovascular surgery in these young patients. However, there is no information about the long term prognosis of these individuals. This article presents a patient with a long term treatment (≥7 years) of LDL apheresis, who had died at the age of 25 because of severe cardiac failure. Even though he had consulted primary care physicians many times with specific physical signs of FH (arcus cornea, xanthomas in the skin) at a very early age and a history of cardiovascular events in first-degree relatives, he could not receive HoFH diagnosis. Due to a delayed diagnosis of HoFH, despite long-term apheresis, atherosclerotic process has progressed. In this case report, the severe problems encountered during the long term management of this HoFH patient are described. At the same time, current treatment approaches for HoFH recommended by the related guidelines are reviewed.Keywords: Familial Hypercholesterolemia, lipoprotein apheresis, LDL-cholesterol, xanthoma. Öz Ailevi hiperkolesterolemi (AH), LDL reseptörlerinin defektif olması sonucu gelişen aşırı yüksek kolesterol düzeyleri

show abstract

Familial Hypercholesterolemias: Prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

Cited by 313 publications

References 64 publications

Estimated Prevalence of Heterozygous Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

Estimated Prevalence of Heterozygous Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome

Management of Familial Hypercholesterolemia: A Review of the Recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia

Homozigot ailevi hiperkolesterolemi olgusunda uzun dönem izlem: LDL aferezi ve tedavide yaşanan sorunlar

Contact Info

Product

Resources

About