14. Familial hypercholesterolemia

L. Vladimirova-Kitova; S. Kitov

14. Familial hypercholesterolemia

In: Handbook of cholesterol

Authors:

L. Vladimirova-Kitova

L. Vladimirova-Kitova Clinic of Cardiology, Medical University, Peshersko shosse 66, 4000 Plovdiv, Bulgaria

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S. Kitov

S. Kitov Clinic of Cardiology, Medical University, Peshersko shosse 66, 4000 Plovdiv, Bulgaria

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Type:: Chapter

Pages:: 243–266

DOI:: https://doi.org/10.3920/978-90-8686-821-6_14

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Familial hypercholesterolemia (FH) is characterized by very high values of low-density lipoprotein (LDL) cholesterol and early development of coronary artery disease (CAD), which is mainly caused by mutations in LDL-receptor (LDL-R) genes, Apo-B or proprotein convertase subtilisin/kexin type 9 (PCSK9). It is potentially lethal and is caused by a defective endocytosis of LDL-cholesterol by LDL-R. Diagnosing FH is based on five criteria: family history, clinical history associated with early CAD, objective examination – xanthomas and arcus corneae, very high LDL when measured numerously and discovering mutations through a molecular genetic analysis. The percentage of heterozygous FH (HeFH) is 1:500 on the average; higher incidence is present in certain populations as French Canadians, black South Africans and Christian Lebanese. The latter seems related to the ‘genetic ancestor effect’. More recent studies in non-specific general populations show that the incidence of HeFH (based on the Dutch Lipid Clinic Network criteria) is higher: 1:200 or for the molecularly defined cases of HeFH: 1:244. Cascade screening is cost effective in identifying new cases of FH in the family members of patients with diagnosed FH. The incidence of clinical homozygous FH has been estimated at 1:1,000,000. The disease is best studied in Holland with 71% diagnosed patients, followed by 43% in Norway, 19% in Ireland, 13% in Sweden, 12% in the UK and 6% in Spain. The most commonly used diagnostic criteria are those, defined by the Dutch Lipid Clinic Network. The following target LDL cholesterol in FH is recommended according to the ESC/EAS guidelines: in children <3.5 mmol/l, in adults <2.5 mmol/l, in adults with CAD and diabetes <1.8 mmol/l. Lipid lowering agents should be introduced immediately after diagnosis has been made in adults and between the age of 8 to 10 in children. Therapeutics are used in the following order for children: (1) statins; (2) ezetimibe; (3) bile acid sequestrants; (4) lipoprotein apheresis in homozygous patients; and for adults: (1) maximum dosage of potent statin; (2) ezetimibe; (3) bile acid sequestrants; (4) monoclonal antibody therapy, directed against the PCSK9 is an option in the near future.

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Handbook of cholesterol

Biology, function and role in health and diseases

Series: Human Health Handbooks, Volume: 11

E-Book ISBN:: 9789086868216

Publisher:: Wageningen Academic

Print Publication Date:: 08 Feb 2016

Subjects
- Life Sciences
  - General
  - Food & Health

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14. Familial hypercholesterolemia

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Handbook of cholesterol

Biology, function and role in health and diseases

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