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2024, Number 6

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Acta Pediatr Mex 2024; 45 (6)

Familial hypercholesterolemia: A hidden enemy from childhood, ¿forgotten or infrequent?

Granados Pérez, José Vicente; Lopera Cañaveral, María Victoria; Correa Saldarriaga, Johana; Tirado Pérez, Irina Suley

Language: Spanish
References: 18
Page: 632-637
PDF size: 207.47 Kb.


ABSTRACT

Introduction: Familial hypercholesterolemia (FH) is the most common genetic metabolic disorder, characterized by markedly elevated levels of low-density lipoproteins from birth, leading to atherosclerotic cardiovascular disease (ASCVD) and premature deaths. The purpose of this review is to share a clinical case with this pathology and carry out a current review on the diagnosis and management of these patients with the aim of raising awareness that contributes to the reduction of morbidity and mortality.
Clinical case: A 6-year-old female patient, who attended a pediatric endocrinology check-up due to overweight, was asymptomatic. With a family history of dyslipidaemia and cardiovascular disease, father with dyslipidaemia, grandmother and paternal aunts with cerebrovascular disease at age 50, maternal grandfather with dyslipidaemia, grandmother and maternal aunt with cerebral aneurysm. She underwent paraclinical tests that showed hypercholesterolemia at the expense of LDL cholesterol, which was difficult to control despite control of habits and multidisciplinary management. Familial hypercholesterolemia is suspected, and genetic testing is performed to detect a heterozygous variant of the LDLR (LDL receptor) gene.
Conclusions: familial hypercholesterolemia is the main cause of cerebrovascular accident (CVA) that begins in childhood. Therefore, it is vitally important to recognize the personal history to make an early diagnosis. Despite great advances in the disease and effective management, FH continues to be underdiagnosed, generating an impact on morbidity, mortality, and Public Health.


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