FH IS UNDERDIAGNOSED, UNDERTREATED AND LIFE-THREATENING

FH is Different – “You never find an individual with FH. You always find a family.”

– Katherine A. Wilemon



According to the Consensus Statement published by the European Atherosclerosis Society, more than 90% (and maybe as high as 99%) of individuals with FH in the US have not been properly diagnosed due to gaps in screening, recognition and classification of FH.

  • If not identified and aggressively treated from an early age, individuals with FH have a 20-fold increased life time risk of heart disease compared to the general population.

  • However, with optimal treatment an affected individual’s lifetime risk of cardiovascular disease approaches the risk in the general population.

FH IS ONE OF THE MOST COMMON GENETIC METABOLIC DISORDERS

Anne Tybjærg-Hansen, MD, DMSc – “Total frequency is underestimated.”

FH has the prevalence of 1 in 250 individuals worldwide. FH is an autosomal dominant genetic condition caused by mutations in the low-density lipoprotein receptor (LDLR) gene, and less commonly, by mutations in the apolipoprotein B (apoB) or the proprotein convertase subtilisin/kexin (PCSK9) genes,all of which Inhibit LDL-C metabolism.   LDL-C is elevated from birth on and often leads to premature coronary heart disease resulting in early myocardial infarctions (MIs), in some cases as early as childhood in individuals with HoFH and second to sixth decade of life in individuals with HeFH. Individuals with FH have a significantly higher risk of developing CHD than unaffected individuals due to the lifetime exposure to elevated LDL-C.

Graph3     ^^The burden of LDL-C is significantly lower in individuals with early high-dose statin initiation

MIRisk     Recent data have confirmed earlier studies indication that FH accounts for roughly 13,000 MIs In the US per year. Initial insights from the FH Foundation’s CASCADE FH Registry™ suggest that over 25% of FH patients in the registry have heart disease by the time they are diagnosed and the age of diagnosis remains too late for most. In addition a majority of the patients in the registry require more than one medication to lower cholesterol.
 
References:
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2. Goldberg AC, Hopkins PN, Toth PP, et al. Familial hypercholesterolemia: screening, diagnosis and management of pediatric and adult patients: clinical guidance from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011;5:S1-8.
3. Versmissen J, Oosterveer DM, Yazdanpanah M, et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. Bmj 2008;337:a2423
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6. Austin MA, Hutter CM, Zimmern RL, Humphries SE. Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review. Am J Epidemiol 2004;160:407-20
7.  Slack J. Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states. Lancet 1969;2:1380-2
8. Risk of fatal coronary heart disease in familial hypercholesterolemia. Scientific Steering Committee on behalf of the Simon Broome Register Group. BMJ 1991;303(6807):893-896.
9.  Marks D, Thorogood M, Neil HA et al. A review on the diagnosis, natural history, and treatment of familial hypercholesterolaemia. Atherosclerosis 2003;168:1-14
10. Go AS, Mozaffarian D, Roger VL, et al. Heart disease and stroke statistics–2013 update: a report from the American Heart Association. Circulation 2013;127:e6-e245
11.  O’Brien EC, deGoma EM, Moriarty PM, Linton MF, Shapiro MD, Duell PB, Ballantyne CM, Neal WA, Ahmad ZS, Duffy D, Hudgins LC, Hemphill LC, Underberg JA, Watson KE, Gidding SS, Baum SJ, Wilemon KA, Pickhardt D, Kindt I, Rader DJ, Roe MT, & Knowles JW. Initial Results from the CASCADE-FH Registry: CAscade Screening for Awareness and Detection of Familial Hypercholesterolemia. Clinical Cardiology 2015.