Case of homozygous familial hypercholesterolaemia with premature coronary artery disease.
BMJ Case Rep
; 14(5)2021 May 19.
Article
em En
| MEDLINE
| ID: mdl-34011640
ABSTRACT
Familial hypercholesterolaemia is a genetic disorder secondary to mutation of one or more of the genes critical for low-density lipoprotein cholesterol (LDL-C) metabolism; these mutation(s) cause highly elevated serum LDL-C, significantly increasing the risk of early cardiovascular events and mortality. Homozygous familial hypercholesterolaemia (HoFH) is rare and often leads to accelerated coronary atherosclerosis presenting within the first two decades of life. We report a case of a 14-year-old boy who presented after surviving a ventricular fibrillation cardiac arrest. His highly elevated LDL-C level prompted further workup and led to a diagnosis of HoFH. The treatment included medical therapy and coronary artery bypass grafting. The patient also required referral for lipid apheresis to meet goal LDL-C level, and an automated implantable cardioverter defibrillator for secondary prevention of sudden cardiac death. HoFH, if left untreated, can have devastating consequences Therefore, timely diagnosis initiating appropriate therapy is important.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Remoção de Componentes Sanguíneos
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Doença da Artéria Coronariana
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Hiperlipoproteinemia Tipo II
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Anticolesterolemiantes
Tipo de estudo:
Diagnostic_studies
Limite:
Adolescent
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Humans
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Male
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article