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Familial hypercholesterolemia and its manifestations: Practical considerations for general practitioners.
Anagnostis, Panagiotis; Antza, Christina; Florentin, Matilda; Kotsis, Vasileios.
Afiliación
  • Anagnostis P; 3rd Department of Internal Medicine, Medical School, Aristotle University of Thessaloniki, "Papageorgiou" General Hospital Thessaloniki, Thessaloniki, Greece. pan.anagnostis@gmail.com.
  • Antza C; 3rd Department of Internal Medicine, Medical School, Aristotle University of Thessaloniki, "Papageorgiou" General Hospital Thessaloniki, Thessaloniki, Greece.
  • Florentin M; Department of Internal Medicine, Faculty of Medicine, University of Ioannina, Ioannina, Greece.
  • Kotsis V; 3rd Department of Internal Medicine, Medical School, Aristotle University of Thessaloniki, "Papageorgiou" General Hospital Thessaloniki, Thessaloniki, Greece.
Kardiol Pol ; 81(11): 1081-1088, 2023.
Article en En | MEDLINE | ID: mdl-37937357
Familial hypercholesterolemia (FH) is the most common genetic disorder of lipid metabolism, affecting almost 1 in 250 individuals worldwide. It is usually inherited via the autosomal dominant way and is characterized by aberrantly high total and low-density lipoprotein cholesterol (LDL-C) concentrations from early childhood, predisposing to increased risk of premature atherosclerotic cardiovascular disease (ASCVD), mostly coronary heart disease (CHD). Despite its high prevalence in the general population and the high ASCVD risk, FH is often underdiagnosed and undertreated. Genetic diagnosis is not always necessary since specific criteria, taking into account the patient's individual and family history, clinical signs, and untreated LDL-C concentrations, may be used for prompt diagnosis. Except for CHD, which may be already evident at diagnosis, leading to increased mortality, other non-CHD morbidities, such as stroke, peripheral artery disease, carotid artery stenosis, and aortic valve calcification may be also present, substantiating the need for prompt intervention. Statins constitute the mainstay of treatment both in adults and children >8 years old. In cases of statin intolerance or not achieving the LDL-C target despite maximally tolerated statin dose, ezetimibe and/or proprotein convertase subtilisin-kexin type 9 inhibitors may be used. The advent of recently approved medications, such as inclisiran and bempedoic acid, either as monotherapy or as add-on therapy to statins, has further enhanced the therapeutic armamentarium that can be used in FH patients. The purpose of this narrative review is to provide practical considerations regarding the diagnostic and therapeutic approach to FH patients.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Inhibidores de Hidroximetilglutaril-CoA Reductasas / Enfermedad Coronaria / Aterosclerosis / Médicos Generales / Hiperlipoproteinemia Tipo II / Anticolesterolemiantes Límite: Adult / Child / Child, preschool / Humans Idioma: En Revista: Kardiol Pol Año: 2023 Tipo del documento: Article País de afiliación: Grecia Pais de publicación: Polonia
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Inhibidores de Hidroximetilglutaril-CoA Reductasas / Enfermedad Coronaria / Aterosclerosis / Médicos Generales / Hiperlipoproteinemia Tipo II / Anticolesterolemiantes Límite: Adult / Child / Child, preschool / Humans Idioma: En Revista: Kardiol Pol Año: 2023 Tipo del documento: Article País de afiliación: Grecia Pais de publicación: Polonia