Data di Pubblicazione:
2022
Abstract:
Lp(a): a genetic cause of clinical FH in children
Maurizio R. Averna 1,2
* and Angelo B. Cefalù 1
1
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), Università degli Studi di Palermo, Via del Vespro 129, 90127 Palermo, Italy;
and 2
Istituto di Biofisica, Consiglio Nazionale delle Ricerche, Via U. La Malfa 153, 90146 Palermo, Italy
This editorial refers to 'Lipoprotein(a) levels in children with suspected familial hypercholesterolaemia: a cross-sectional
study', by L.M. de Boer et al., https://doi.org/10.1093/eurheartj/ehac660.
Familial hypercholesterolaemia (FH) is an autosomal co-dominant dis-
order of lipoprotein metabolism most often due to variants in the
LDLR, APOB, or PCSK9 genes, leading to very high LDL-cholesterol
(LDL-C) levels from birth. 1 The prevalence of FH is globally estimated
at 1 in 311 individuals, with a broad variability determined by several fac-
tors, including different criteria for diagnosis, ethnicity, age of the popu-
lation, and others.2 If left untreated, FH may be complicated by premature atherosclerotic cardiovascular disease (ASCVD). Early diag-
nosis and treatment are associated with the best results.3,4
Clinical diagnostic tools, such as the Dutch Lipid Clinic Network
Criteria (DLCNC), are widely used in practice, but genetic testing is
considered the method of choice for diagnosing FH. 5,6 The limited ap-
plicability of clinical diagnostic tools in children highlights the import-
ance of genetic testing in the paediatric population.
Maurizio R. Averna 1,2
* and Angelo B. Cefalù 1
1
Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties (PROMISE), Università degli Studi di Palermo, Via del Vespro 129, 90127 Palermo, Italy;
and 2
Istituto di Biofisica, Consiglio Nazionale delle Ricerche, Via U. La Malfa 153, 90146 Palermo, Italy
This editorial refers to 'Lipoprotein(a) levels in children with suspected familial hypercholesterolaemia: a cross-sectional
study', by L.M. de Boer et al., https://doi.org/10.1093/eurheartj/ehac660.
Familial hypercholesterolaemia (FH) is an autosomal co-dominant dis-
order of lipoprotein metabolism most often due to variants in the
LDLR, APOB, or PCSK9 genes, leading to very high LDL-cholesterol
(LDL-C) levels from birth. 1 The prevalence of FH is globally estimated
at 1 in 311 individuals, with a broad variability determined by several fac-
tors, including different criteria for diagnosis, ethnicity, age of the popu-
lation, and others.2 If left untreated, FH may be complicated by premature atherosclerotic cardiovascular disease (ASCVD). Early diag-
nosis and treatment are associated with the best results.3,4
Clinical diagnostic tools, such as the Dutch Lipid Clinic Network
Criteria (DLCNC), are widely used in practice, but genetic testing is
considered the method of choice for diagnosing FH. 5,6 The limited ap-
plicability of clinical diagnostic tools in children highlights the import-
ance of genetic testing in the paediatric population.
Tipologia CRIS:
01.01 Articolo in rivista
Keywords:
FAMILIAL HYPERCHOLESTEROLEMIA; OXIDIZED PHOSPHOLIPIDS; LIPOPROTEIN(A); PROGRESSION
Elenco autori:
Averna, Maurizio
Link alla scheda completa:
Pubblicato in: