Find FH Initiative

  • FH is more common than type 1 diabetes.2
  • It affects 1 in 250 individuals worldwide (approximately 1.3 million individuals in the United States).3,4,5
  • 90-99% of individuals with FH are not accurately diagnosed in the US.3
  • If not identified and appropriately treated from an early age, individuals with FH have a 20-fold increased lifetime and population-based risk of heart disease.6
  • Data has shown that untreated men with FH have a 50% chance of a myocardial infarction by age 50 and women have a 30% chance by age 60.7
  • However, with proactive treatment, an affected individual’s lifetime risk of cardiovascular disease approaches the risk in the general population.8

To address the low rate of diagnosis of FH, the Family Heart Foundation has embarked on a multi-component initiative, FIND FH® (Find, Identify, Network, and Deliver for Familial Hypercholesterolemia).

  • the Family Heart Foundation built a machine-learning algorithm based on structured and unstructured data is implementing it to identify individuals with probable FH within EHRs, large-scale lab results, and claims databases.
  • A heat map showing the geographic distribution of individuals with probable FH at the healthcare provider level is being generated.
  • Healthcare providers with concentrations of individuals with probable FH have the opportunity to learn about patients with probable FH in their practice. Data providers share the identified patient information with the HCP if requested explicitly by the HCP. Additionally, the Family Heart Foundation is establishing patient Digital Engagement Strategies to promote FH awareness, encourage screening, and provide the necessary tools and resources.

FIND FH® utilizes advanced machine learning technology to learn from individuals with and without FH by analyzing labs, claims and electronic health record data to create algorithms to identify patients with probable FH in the US at the health care provider level. All data received by the Family Heart Foundation for analysis from data providers is de-identified in a HIPAA-compliant manner. the Family Heart Foundation works with health care providers and other covered entities to assist in the classification of individuals with probable FH.

Consider an FH diagnosis if a patient meets the following criteria:

  • Family history premature coronary heart disease (CHD) [age < 55 in men, <65 in women]
  • High low-density lipoprotein cholesterol (LDL-C) while off treatment
    • [20 yr +: > 190 mg/dL; <20 yr: > 160 mg/dL]

    *Treated >124mg/dL *Or high total cholesterol while off treatment [20 yr +: >310 mg/dL; <20 yr: > 230 mg/dL]

An FH diagnosis is necessary even if elevated cholesterol is being treated because: (1) FH is an autosomal dominant inherited disorder causing elevated LDLs from birth. Each first-degree relative of an individual with FH has a 50% chance of inheriting FH. Family cascade screening is critical when a diagnosis is made. (2) Lifetime exposure to high LDL-C leads to premature coronary heart disease. Untreated men with FH have a 50% change of a heart attack by age 50. Untreated women have 30% chance by age 60. Treatment adherence is critical in the FH patient to prevent early cardiac events.

Family Heart Foundation has a variety of resources for your practice and your patients including clinician tools, patient education materials, FIND FH contact center to answer patient questions, a map of probable individuals with FH at the health care practice level, active family cascade screening program, a national active FH patient registry and an interactive map with FH specialists to help you find an FH specialist in your area. Learn more about these resources and more at www.theFHfoundation.org.

Lipid testing of all first degree relatives, known as family cascade screening, should be encouraged to all individuals with FH because: 1) FH is autosomal dominant. 2) Each first-degree relative of an individual with FH has a 50% chance of also having FH. As family cascade screening proceeds, newly identified FH cases provide additional relatives who should be considered for screening. Family cascade screening is a cost-effective means of finding undiagnosed FH patients and is cost-effective in cost per year of life saved. the Family Heart Foundation can help with family cascade screening. Please contact us at 844-I FIND FH or at [email protected].

References

  1. Hopkins PN, Toth PP, Ballantyne CM, Rader DJ. Familial hypercholesterolemias: prevalence, genetics, diagnosis and screening recommendations from the National Lipid Association Expert Panel on Familial Hypercholesterolemia. J Clin Lipidol 2011;5:S9-17
  2. Maahs DM, West NA, Lawrence JM, Mayer-Davis EJ. Chapter 1: Epidemiology of Type 1 Diabetes. Endocrinol Metab Clin North Am. 2010 September ; 39(3): 481–497. doi:10.1016/j.ecl.2010.05.011.
  3. Nordestgaard BG, Chapman MJ, Humphries SE, 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 2013.
  4. Sjouke B, Kusters DM, Kindt I, Besseling J, Defesche JC, Sijbrands EJ, Roeters van Lennep JE, Stalenhoef AF, Wiegman A, de Graaf J, Fouchier SW, Kastelein JJ, Hovingh G. Homozygous autosomal dominant hypercholesterolaemia in the Netherlands: prevalence, genotype-phenotype relationship, and clinical outcome. Eur Heart J 2015;36:560–565.
  5. Watts GF, Gidding S, Wierzbicki AS, Toth PP, Alonso R, Brown WV, Bruckert E, Defesche J, Lin KK, Livingston M, Mata P, Parhofer KG, Raal FJ, Santos RD, Sijbrands EJ, Simpson WG, Sullivan DR, Susekov AV, Tomlinson B, Wiegman A, Yamashita S, Kastelein JJ.
  6. 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.Integrated guidance on the care of familial hypercholesterolemia from the International Family Heart Foundation. Int J Cardiol 2014;171:309–325.
  7. 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
  8. Versmissen J, Oosterveer DM, Yazdanpanah M, et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. Bmj 2008;337:a2423

The Familial Hypercholesterolemia Foundation (FHF) is a nonprofit organization dedicated to raising awareness of all forms of familial hypercholesterolemia (FH) through research, advocacy and education in order to increase the rate of early diagnosis and encourage proactive treatment of FH.

FIND FH® is a registered trademark of The Familial Hypercholesterolemia Foundation DBA the Family Heart Foundation (US Reg. No. 4815071).

The Familial Hypercholesterolemia Foundation retains all intellectual property rights in its trademarks and service marks, and reserves the right to revoke all licenses or permissions to use such trademarks and service marks. All use of such trademarks and service marks and goodwill associated with them inure to the benefit of The Familial Hypercholesterolemia Foundation.