FH affects all races and can be found on every continent.  Nevertheless, diagnosis is less than 10% in most countries. 

Distinguished researchers and world-renowned clinicians made up 70% of the participants from 20 different countries.

Individuals living with FH and representatives from FH patient advocacy organizations made up 20% of the attendees.

Some of the countries represented were:

Portugal, Spain, Bulgaria, the UK, the Netherlands, Sweden, Russia, South Africa, Chile, Greece, Italy, Brazil, Canada, Israel, Japan, Australia, Oman, France, Germany, and the United States.

"We don't have available data of FH prevalence, we have little genetic information, unfortunately [there is] the lack of awareness in physicians and patients and consequently, the treatment for FH patients is very limited." 

Ada Cuevas, MD, Msc

Clinica las Condes, Chile

Breaking News

FIND FH is a new program that will use electronic health records to identify physician practices with possible FH cases.  It has the potential to transform the landscape for FH.  With so many treatment options available and more on the horizon to prevent disease, it is time to identify people with FH and get to the work of adequately treating them. 

I FIGHT FH is a study by Dan Rader, MD, in partnership with The FH Foundation, which will look at the role of genetic testing in cascade screening for FH.

We were proud to have Dan Rader, MD, University of Pennsylvania at the Summit.  Dr. Chapman introduced Dr. Rader as one who "has had a seminal impact on this field...and is a tremendous supporter of The FH Foundation."   Dr. Rader presented I FIGHT FH, a study being done in partnership with The FH Foundation, which will look at the role of genetic testing in cascade screening for FH.
 

Active Cascade Screening is an FH Foundation initiative presented by Seth Baum, MD and Amy Sturm, MS, LGC.  This pilot project compares the efficacy of passive cascade screening, where the doctor asks the index patient to communicate with his or her family, versus active cascade screening, where a genetic counselor reaches out to family members of an index patient in order to develop a "pragmatic and accessible cascade screening program."

"There is a lack of data on best practices in communicating risk to relatives of the index case.  Without successful cascade screening, we will never identify and treat the vast majority of FH patients."  

Seth Baum, MD

FH Foundation Board

Preventive Cardiology Inc.

Raising awareness of FH in the primary care medical community  

The FH Foundation is working with the AAFP to raise awareness of FH among primary care providers.  

"FH is not just a disease of the individual patient, but also the family.  Family history is a powerful tool."

American Academy of Family Physicians

Discussion kept coming back to the importance of early detection in children with FH. 

"Detecting FH in children can help to ensure that lifestyle becomes integral before adolescence."  

Albert Wiegman, MD, PhD

Academic Medical Center

Netherlands 

"FH patients want to see a move from acute to preventive care.  Parents want to prevent disease in their children."   

Gunnar Karlsson 

FH Advocate, Sweden

FH Foundation Shares Substantial Progress on Research and Policy Initiatives

• The CASCADE FH Registry, the only active patient registry for FH in the US - was launched at the first Summit and now has over 1,200 enrolled. 

Initial findings from the CASCADE FH Registry*

*This group, by definition, is more likely to have been diagnosed with FH than the general population since most were entered by a clinical site where they are being treated for FH. 

• ICD-10 Diagnosis Codes - The lack of specific diagnosis codes for FH was identified as a barrier to diagnosis at the FH Global Summit in 2013.  In January 2014, The FH Foundation submitted a proposal to the ICD-10 Coordination and Maintenance Committee for codes for FH and testified at public hearings about the need for these codes.  A decision is expected in 2016. 

• Call to Action - As a result of the first FH Global Summit, "Reducing the burden of disease and death from familial hypercholesterolemia: A call to action" was published in the American Heart Journal in September (click here).

Challenges Ahead

Education, Education, Education 

The task of raising awareness of FH remains a priority.  FH is under recognized not only in the general public, but also among healthcare providers. 

 "There are multiple pathways for improving provider education, including those focused on patients, providers themselves, institutions, and general public awareness."

 "Lack of awareness is the reason for under diagnosis.  Even HoFH patients are not recognized enough." 

THANK YOU!

The FH Foundation would like to thank all of the participants, especially our excellent Co-Chairs, Christie Ballantyne, MD, and John Chapman, PhD, DSc.  We would also like to thank the sponsors who made this event possible, as well as the members of the Steering Committee and the Staff of The FH Foundation, whose generous support and tireless work resulted in a truly inspiring event, filled with action plans and hope for the future for people living with FH.