Journal of Preventive Cardiology
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Year: 2016 I  Volume: 6I  Issue: 1I  Pages:947–953

Familial hypercholesterolemia - An underdiagnosed and undertreated entity

Dr. J P S Sawhney*, DM; Sourabh Bagga†, DM; Simran Sawhney‡, MBBS

*Chairman, Department of Cardiology, Dharma Vira Heart Centre, Sir Ganga Ram hospital, New Delhi-110060, India

†Senior Resident, Department of Cardiology, G B Pant Hospital, New Delhi

‡ Post Graduate Medicine, St. Stephen Hospital, Delhi -110054



Familial hypercholesterolemia (FH) is a common autosomal-dominant disorder characterized by a raised level of low-density lipoprotein cholesterol (LDL-C) and a high risk of premature coronary heart disease (CHD). Diagnosis of FH largely relies on the evaluation of LDL-C levels, a careful documentation of family history, and the identification of clinical features. FH is underdiagnosed and undertreated, with only 1% being treated even in developed nations.

The primary goal for the treatment of FH is to reduce mortality and atherosclerotic cardiovascular disease events, which is achieved by reducing plasma LDL levels. European Society of Cardiology (ESC) guidelines recommend LDL goal of 70-100 mg/dL depending on associated cardiovascular disease risk. Statins are presently the mainstay in the management of these patients. A substantial population of patients cannot take advantage of statin therapy as they do not reach LDL goal despite using maximum tolerated doses or due to statin intolerance, suggesting a need for additional effective agents to reduce LDL-C levels. Proprotein convertase subtilisin-kexin type 9 (PCSK9) inhibitors such as evolocumab and alirocumab are newer treatment options which provide additional options to further lower LDL levels. Evolocumab and alirocumab are fully human monoclonal immunoglobulin G2 (IgG2) directed against human PCSK9. By inactivating PCSK9, they upregulate LDL receptors, thereby increasing catabolism of LDL-C and consequently reducing LDL-C levels in blood.

In this article, we review FH, complexity of diagnosis and management, and newer treatment options like PCSK9 inhibitors that could help improve the management of FH.

Familial hypercholesterolmia
Statin Therapy
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Journal of Preventive Cardiology
Print ISSN: 2249-4308
Online ISSN: 2277-6559
Frequency: Quarterly
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