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Lipid Disorders and Familial Hypercholesterolaemia

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Advanced Practice in Endocrinology Nursing

Abstract

Raised lipid levels are a significant risk factor for coronary heart disease. Lipids are a heterogeneous group of substances which include cholesterol, triglycerides, lipoproteins and apolipoproteins. The link between increased lipid levels and atherosclerosis has been known since the early 1900s. Optimum levels of total cholesterol and low density lipoprotein cholesterol (LDL) are unknown but the general consensus is ‘the lower the better’ with some guidelines suggesting that the goal should be an LDL of <1.8 mmol/L (<70 mg/dL).

Familial hypercholesterolaemia (FH) is an autosomal dominant genetic condition which is characterised by elevated levels of cholesterol and an increased risk of premature coronary heart disease (CHD). Patients with heterozygous familial hyperchlosterolaemia typically develop coronary disease 10 years earlier than the general population. The condition remains under diagnosed, and there is a worldwide need for early detection and treatment to be improved.

Statins are the first choice lipid-lowering therapy. However, maximum tolerated doses may not be sufficient to reduce lipid levels to target, and there are a variety of other agents that can be used in combination with statins or as an alternative for patients who are unable to tolerate statin therapy. There are also several novel lipid-lowering therapies that will potentially enable more patients to achieve desired lipid levels. Lipoprotein apheresis, which is a dialysis-like therapy, is another treatment option for those patients whose lipid levels remain elevated despite optimum medical therapy.

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Abbreviations

ACC:

American College of Cardiology

AHA:

American Heart Association

Apo A:

Apolipoprotein A

Apo B:

Apolipoprotein B

BHF:

British Heart Foundation

CAD:

Coronary artery disease

CETP:

Cholesterol ester transfer protein

CHD:

Coronary heart disease

CVD:

Cardiovascular disease

EAS:

European Atherosclerosis Society

ESC:

European Society of Cardiology

FH:

Familial hypercholesterolaemia

HDL:

High density lipoprotein

LDL/LDL-C:

Low density lipoprotein

Lp (a):

Lipoprotein (a)

MI:

Myocardial infarction

MTP:

Microsomal triglyceride transport protein

NCEP:

National Cholesterol Education Programme

NICE:

National Institute for Health and Care Excellence

PCSK9:

Proprotein convertase substilisin/kexin type 9

RCT:

Randomised controlled trial

TC:

Total cholesterol

VLDL:

Very low density lipoprotein

WHO:

World Health Organisation

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Key Reading

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Authors and Affiliations

  1. Royal Brompton and Harefield NHS Foundation Trust, London, UK

    Alison Pottle

  2. Harefield Hospital, Harefield, UK

    Alison Pottle

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Editors and Affiliations

  1. School of Health Sciences, City, University of London, London, UK

    Sofia Llahana

  2. Department of Oncology, Skåne University Hospital, Lund, Sweden

    Cecilia Follin

  3. Northwest Pituitary Center Oregon Health and Sciences University, Portland, OR, USA

    Christine Yedinak

  4. Churchill Hospital, University of Oxford, Oxford, UK

    Ashley Grossman

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Pottle, A. (2019). Lipid Disorders and Familial Hypercholesterolaemia. In: Llahana, S., Follin, C., Yedinak, C., Grossman, A. (eds) Advanced Practice in Endocrinology Nursing. Springer, Cham. https://doi.org/10.1007/978-3-319-99817-6_57

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