Familial Hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients

Goldberg, Anne C.; Hopkins, Paul N.; Tóth, Peter P.; Ballantyne, Christie M.; Rader, Daniel J.; Robinson, Jennifer G.; Daniels, Stephen R.; Gidding, Samuel S.; Ferranti, Sarah D. de; Ito, Matthew K.; McGowan, Mary P.; Moriarty, Patrick M.; Cromwell, William C.; Ross, Joyce L.; Ziajka, Paul

doi:10.1016/j.jacl.2011.03.001

Cited by 521 publications

(116 citation statements)

References 5 publications

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“…1,67 Despite this high risk compared with unaffected individuals, the clinical course of atherosclerotic cardiovascular disease in FH subjects is variable, with the presence of higher LDL-C levels and additional risk factors increasing risk. 2,7 The relative risk of mortality in FH compared with normolipidemic counterparts is much greater at younger ages than at older ages. Data from the Simon Broome registry in the prestatin era showed a standardized relative mortality rate of 125 (95% confidence interval, 15-451) and 48 (95% confidence interval, 18-105) for women and men, respectively, in the 20-to 29-year-old age group compared with paired normolipidemic subjects.…”

Section: Adulthoodmentioning

confidence: 99%

“…[1][2][3] Heterozygous FH has the highest prevalence of genetic defects that cause significant premature mortality (≈1:200 to 1:500 or higher in founder populations). The genetic basis of the disorder, impaired functioning of the low-density lipoprotein (LDL) receptor, was first recognized by Goldstein and Brown 4 in their Nobel Prize-winning work.…”

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confidence: 99%

“…Guidelines and consensus statements have been published to improve FH awareness and care. [1][2][3]12,13 Improved identification of heterozygous and homozygous individuals at a young age has emerged as a priority given that lifelong exposure to elevated LDL-C levels is the cause of ischemic heart disease and that effective treatment to lower LDL-C levels and to prevent or delay future ischemic heart disease exists. FH has been recognized as a tier 1 genetic disorder by the Centers for Disease Control Office of Public Health Genomics in the United States, meaning that sufficient evidence for health benefit exists to implement case finding via family history-based screening, cascade screening, or other strategies.…”

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confidence: 99%

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The Agenda for Familial Hypercholesterolemia

Gidding¹,

Champagne²,

Ferranti³

et al. 2015

Circulation

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588

353

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Section: Adulthoodmentioning

confidence: 99%

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confidence: 99%

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confidence: 99%

See 1 more Smart Citation

The Agenda for Familial Hypercholesterolemia

Gidding¹,

Champagne²,

Ferranti³

et al. 2015

Circulation

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588

353

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“…Otra excepción es el síndrome de hiperquilomicronemia, en el cual la restricción grasa debe comenzar desde el momento del diagnóstico, si el paciente tiene riesgo de complicaciones por hiperviscosidad sanguínea (triglicéridos por encima de 800-1000 mg/dl). 8,[24][25][26] Es necesario, además del perfil lipídico, controlar otras cuestiones relacionadas con la infancia y la adolescencia, como que el paciente consiga un adecuado crecimiento, que no presente deficiencias relacionadas con la dieta, que tenga un desarrollo sexual acorde a sexo y edad, y valorar el impacto emocional que tiene el diagnóstico y el tratamiento.…”

Section: Tabla 4 Condiciones Pediátricas Con Riesgo Cardiovascular Eunclassified

Consenso sobre manejo de las dislipidemias en pediatría

Nutrición¹

2015

Arch Argent Pediat

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RESUMENEste documento, dirigido a médicos pediatras, de familia, especialistas en nutrición, entre otros, tiene por objetivos trasmitir los lineamientos para el diagnóstico temprano y el tratamiento de dislipidemias en pediatría y concientizar al pediatra sobre la prevención de la enfermedad cardiovascular del adulto. La aterosclerosis es un proceso progresivo, que comienza en la infancia, y las dislipidemias pertenecen al grupo de factores de riesgo que aceleran su evolución. Se propone el tamizaje universal de dislipidemias a los 6 años y a los 17 años, y selectivo a partir de los 2 años si existen factores de riesgo o enfermedad predisponente. Se recomienda el dosaje de colesterol total, LDL, HDL y triglicéridos con ayuno previo. El tratamiento de las dislipidemias en pediatría tiene el objetivo de disminuir el riesgo de eventos cardiovasculares prematuros en el caso de hipercolesterolemias y disminuir el riesgo de pancreatitis en el caso de hipertrigliceridemias graves. El pediatra deberá abordar el tamizaje, diagnóstico e implementación de medidas hipolipemiantes. Los pacientes con niveles más elevados deberán derivarse a especialistas con experiencia en tratamientos farmacológicos. Palabras clave: dislipidemias, hipercolesterolemia, hipertrigliceridemia, tamizaje, tratamiento. ABSTRACTThis document is intended for pediatricians, family, nutritionists and others. It aimed to convey the guidelines for early diagnosis and treatment of dyslipidemia in children and sensitize the pediatrician to the prevention of cardiovascular disease in adults. Atherosclerosis is a gradual process that begins in childhood and dyslipidemia belongs to the group of risk factors that accelerate their evolution. Universal screening for dyslipidemia at 6 years and 17 years is proposed; selective screening after 2 years is recommended if there are risk factors or predisposing disease. Assay of total cholesterol, LDL, HDL and triglycerides is recommended, prior fasting. Treatment of dyslipidemia in children aims to reduce the risk of premature cardiovascular events in the case of hypercholesterolemia, and decreasing the risk of pancreatitis in the case of severe hypertriglyceridemia. The pediatrician should address screening, diagnosis and implementation of lipid-lowering measures. Patients with higher levels should be referred to specialists with expertise in drug therapy.

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“…12 Treatment is optimally begun at 8 to 10 years of age in heterozygotes and at diagnosis in homozygotes with regular follow-up thereafter. 10,13,14 Primordial prevention of nonlipid risk factors can be provided early, before additive effects of the interaction of high LDL-C levels with obesity, tobacco use, and physical inactivity mount up. Cost benefit analyses suggest that substantial savings may accrue with cascade screening and early diagnosis.…”

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confidence: 99%