Familial Hypercholesterolemia (FH)
Familial Hypercholesterolemia (FH) is an autosomal dominant genetic disorder characterized by the high circulating levels of LDL cholesterol (LDL-C) caused by alterations in the lipoprotein metabolism. Patients with FH have a 20X higher risk of premature cardiovascular diseases as result of high concentrations of LDL-C. If left untreated, men have a 50% risk of having a heart attack by age 50. Untreated women have a 30% risk by age 60.
Although diet and lifestyle are important, they are not the cause of high LDL. FH is caused by mutations mainly in LDLR, APOB, PCSK9, STAP1 and LDLRAP1 genes resulting in elevated levels of LDL-C in plasma and consequent deposition in tendons and arteries. More than 90 % of the FH patients present mutations in LDL receptor (LDLR) gene.
About 1 in 250 people worldwide have FH. The diagnosis rate is about only about 10%.
FH runs in families. If one parent has FH, each child has a 50% chance of having FH.
High levels of LDL-C contribute to premature morbidity and mortality from coronary heart disease (CHD).
Early diagnosis and appropriate follow-up can significantly reduce the risk of CHD events.
An actionable test to prevent or reduce FH disease burden. LipoGene identifies family members that should receive closer medical attention and it is the only way to diagnose the disease before clinical signs and symptoms appear.
Benefits of testing for Familial Hypercholesterolemia
- Primary and cascade screening of suspected family members with FH have shown clinical utility
- Medical doctors can advise on lifestyle modifications and therapeutics to reduce cardiovascular heart disease or atherosclerosis
- Genetic testing increases the patient’s adhesion to therapeutic measures and healthier lifestyles.
- Asymptomatic individuals with positive genetic testing can receive proper medical treatment.
The FH genetic test includes the evaluation of over 167 genetic variants in:
- 5 genes associated with FH: LDLR, APOB, PCSK9, LDLRAP1, STAP1
- 1 gene associated with cardiovascular risk: APOE
International Medical Guidelines
Genetic testing is recommended by several renowned international organizations, such as the European Society of Cardiology, the European Society of Atherosclerosis, NICE and World Health Organization.
According to European Society of Cardiology/European Society of Atherosclerosis:
“For the diagnosis of specific genetic hyperlipidaemias, genotyping of apolipoprotein E (APOE) and of genes associated with FH may be considered. Tools for genetic screening in families with FH are now available and should be used in specialized clinics.”  “Several methods with different sensitivity and specificity have been developed for the clinical diagnosis of FH, but the ‘gold standard’ is a combination of clinical and biochemical factors and the presence of a detectable disease-causing DNA change, which gives the highest clinical utility.” 
According to National Institute for Health and Care Excellence:
“Cascade testing using a combination of DNA testing and LDL-C concentration measurement is recommended to identify affected relatives of those index individuals with a clinical diagnosis of FH. This should include at least the first- and second- and, when possible, third-degree biological relatives.” 
According to World Health Organization:
“Large-scale family screening and genetic testing have shown to be highly effective in identifying currently untreated patients.”
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: Nordestgaard, Børge G., et al. “Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease Consensus Statement of the European Atherosclerosis Society.” European heart journal 34.45 (2013): 3478-3490.
: Wald, David S., Jonathan P. Bestwick, and Nicholas J. Wald. “Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis.” MBJ 335.7620 (2007): 599.
: 2016 ESC/EAS Guidelines for the management of dyslipidaemias. European Heart Journal (2016) 37 (39): 2999-3058
: European guidelines on cardiovascular disease prevention in clinical practice: executive summary. Eur Heart J (2007) 28 (19): 2375-2414.
: NICE Clinical Guideline 71 – Identification and management of familial hypercholesterolaemia. http://www.nice.org.uk/guidance/CG71
: World Health Organization. Familial hypercholesterolemia—report of a second WHO Consultation. Geneva, Switzerland: World Health Organization, 1999. (WHO publication no. WHO/HGN/FH/CONS/99.2)
 The genetics and screening of familial hypercholesterolaemia. J Biomed Sci. 2016; 23: 39.