Abstract
This review article assesses the clinical features, diagnosis and management of familial hypercholesterolemia (FH). FH is mostly an autosomally dominantly inherited with an incidence of 1 in 250. Tendon xanthomata are pathognomonic. Untreated FH is associated with 100-200 fold increase in risk of cardiovascular disease (CVD). FH is diagnosed by screening for elevated low density lipoprotein cholesterol (LDL-C) and confirmed by DNA techniques. Once index cases have been identified cascade family screening should occur. FH is primarily treated with high dose statin therapy. This reduces progression of surrogate markers of coronary arterial disease and registry studies show a 70% long-term decrease in CVD mortality. The justification for other lipidlowering therapies e.g., ezetimibe relies on the high population attributable risk of LDL-C in FH. Novel therapies with greater LDL-C reducing actions such as proprotein convertase subtilisin kexin-9 inhibitors show promise in FH Children with FH should be identified through cascade screening but drug treatment is dependent on LDL-C and family history. They should be managed in specialist paediatric units or in family clinics. Cases of homozygous FH are rare. This orphan condition should be managed in specialist centers with a combination of drug therapy, apheresis and liver transplantation. Novel therapies for the treatment of homozygous FH such as mipomersen and lomitapide are gradually coming into use FH is a common underdiagnosed condition. Current, let alone future, therapies are extremely effective in reducing both LDL-C and CVD events in patients with FH. Identification and treatment of FH should be a feature of preventative CVD medicine programmes.
Highlights
Broome criteria are similar but simpler and even allowing for the finding that patients are use a cut-off value for adults (>4.7 mmol/L) or being diagnosed earlier
Identification and treatment is usually derived from the 95th centile of the testing is not cheap and the exact functional of Familial hypercholesterolemia (FH) should be a feature of preventative CVD population low density lipoprotein e cholesterol (LDL-C) distribution
High levels of LDL-C can occur sec- the health economics of FH show that cascade Cardiovascular disease outcome trial data in ondary to hepatic steatosis or post-menopausal screening is the optimal strategy to find cases FH is limited as it has been viewed as unethielevations in LDL-C which can confound the of FH24 and that comprehensive genetic typing cal to randomize patients with FH to placebo diagnostic algorithms
Summary
The original diagnostic algorithms for FH rely on identifying cases of FH by clinical criteria such as the presence of tendon xanthomata or less corneal arcus allied with the presence of severe hypercholesterolemia diovascular risk assessment guideline group (CG181). Let alone future, therapies are extremely effecshowing usually an autosomal dominant pattern of inheritance. This can be associated with the presence of CAD in family members and usually premature CAD is used. Identification and treatment is usually derived from the 95th centile of the testing is not cheap and the exact functional of FH should be a feature of preventative CVD population LDL-C distribution. Used include the Dutch lipid criteria based on can be unclear and may not necessarily follow a points score comprising clinical signs, LDL-C computer-based structure-function predicand family CAD or lipid profiles.
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