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*Management of Dyslipidemia*

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**Chapter 6**

**Abstract**

diagnose

**1. Introduction**

familial hypercholesterolemia.

gene [1–10]. See **Table 1**.

disease at an early age [1–10].

affects the metabolism of cholesterol [1–10].

*Mariana Suárez Bagnasco*

Familial Hypercholesterolemia

Familial hypercholesterolemia is a genetic and metabolic disorder associated with an increased risk of morbidity and mortality. Two main types of familial hypercholesterolemia are distinguished: heterozygous familial hypercholesterolemia and homozygous familial hypercholesterolemia. Homozygous familial hypercholesterolemia progresses much more aggressively with higher levels of LDL-C and higher risk of cardiovascular disease at earlier ages. The prognosis of homozygous familial hypercholesterolemia largely depends on the LDL-C levels. Reducing the LDL-C level is one of the primary goals of treatment patients with familial hypercholesterolemia. Effective control of LDL-C significantly reduces the cardiovascular morbidity and mortality. Understanding the factors likely to affect treatment adherence is paramount. Adherence to treatment can be improve when a genetic etiology is confirmed. Positive genetic test result has beneficial effects on

adherence to pharmacotherapy and in achieving LDL-C levels reduction.

**2. Definition and etiology of familial hypercholesterolemia**

**Keywords:** familial hypercholesterolemia, adherence, illness perception, barriers,

This chapter reviews the definition, etiology, course and treatment of familial hypercholesterolemia, and analyses the influence of some factors that may influence the early diagnosis of familial hypercholesterolemia and the treatment of

Familial hypercholesterolemia (FH) is a genetic and metabolic disorder that

Currently, the genes involved in HF are the following: low-density lipoprotein receptor (LDLR) gene, apolipoprotein B-100 (APOB) gene and proprotein convertase subtilisin kexin type 9 (PCSK9) gene, LDLR adaptor protein 1 (LDLRAP1)

The mutation in LDLR gene, APOB gene and PCSK9 gene is inherited following an autosomal dominant/autosomal co-dominant pattern and the mutation in LDLRAP1 gene is inherited following an autosomal recessive pattern [1–10]. Mutations of the genes cause defective LDL uptake and degradation, which in-turn leads to an elevation of plasma low-density lipoprotein-cholesterol (LDL-C) level, producing the hypercholesterolemia phenotype. The chronic exposure to high levels of LDL-C lead to the development of atherosclerosis and cardiovascular
