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Familial hypercholesterolaemia in children and adolescents: gaining decades of
life by optimizing detection and treatment
#MMPMID26009596
Wiegman A
; Gidding SS
; Watts GF
; Chapman MJ
; Ginsberg HN
; Cuchel M
; Ose L
; Averna M
; Boileau C
; Borén J
; Bruckert E
; Catapano AL
; Defesche JC
; Descamps OS
; Hegele RA
; Hovingh GK
; Humphries SE
; Kovanen PT
; Kuivenhoven JA
; Masana L
; Nordestgaard BG
; Pajukanta P
; Parhofer KG
; Raal FJ
; Ray KK
; Santos RD
; Stalenhoef AF
; Steinhagen-Thiessen E
; Stroes ES
; Taskinen MR
; Tybjærg-Hansen A
; Wiklund O
Eur Heart J
2015[Sep]; 36
(36
): 2425-37
PMID26009596
show ga
Familial hypercholesterolaemia (FH) is a common genetic cause of premature
coronary heart disease (CHD). Globally, one baby is born with FH every minute. If
diagnosed and treated early in childhood, individuals with FH can have normal
life expectancy. This consensus paper aims to improve awareness of the need for
early detection and management of FH children. Familial hypercholesterolaemia is
diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein
cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature
coronary artery disease and/or genetic diagnosis, or positive genetic testing.
Childhood is the optimal period for discrimination between FH and non-FH using
LDL-C screening. An LDL-C ?5 mmol/L (190 mg/dL), or an LDL-C ?4 mmol/L (160
mg/dL) with family history of premature CHD and/or high baseline cholesterol in
one parent, make the phenotypic diagnosis. If a parent has a genetic defect, the
LDL-C cut-off for the child is ?3.5 mmol/L (130 mg/dL). We recommend cascade
screening of families using a combined phenotypic and genotypic strategy. In
children, testing is recommended from age 5 years, or earlier if homozygous FH is
suspected. A healthy lifestyle and statin treatment (from age 8 to 10 years) are
the cornerstones of management of heterozygous FH. Target LDL-C is <3.5 mmol/L
(130 mg/dL) if >10 years, or ideally 50% reduction from baseline if 8-10 years,
especially with very high LDL-C, elevated lipoprotein(a), a family history of
premature CHD or other cardiovascular risk factors, balanced against the
long-term risk of treatment side effects. Identifying FH early and optimally
lowering LDL-C over the lifespan reduces cumulative LDL-C burden and offers
health and socioeconomic benefits. To drive policy change for timely detection
and management, we call for further studies in the young. Increased awareness,
early identification, and optimal treatment from childhood are critical to adding
decades of healthy life for children and adolescents with FH.
|Adolescent
[MESH]
|Adult
[MESH]
|Atherosclerosis/diagnosis/drug therapy
[MESH]
|Carotid Intima-Media Thickness
[MESH]
|Child
[MESH]
|Clinical Laboratory Techniques/methods
[MESH]
|Cost of Illness
[MESH]
|Counseling
[MESH]
|Diet
[MESH]
|Dietary Supplements
[MESH]
|Early Diagnosis
[MESH]
|Economics, Medical
[MESH]
|Evidence-Based Medicine
[MESH]
|Female
[MESH]
|Genetic Testing
[MESH]
|Heterozygote
[MESH]
|Homozygote
[MESH]
|Humans
[MESH]
|Hyperlipoproteinemia Type II/diagnosis/*drug therapy/genetics
[MESH]
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