Highlights Report: 2014 FH Global Summit

2014 FH Summit

The FH Global Summit offers a unique opportunity for all players in the healthcare arena, academia, government and patient advocacy groups, to act together to catalyse progress in FH care.

Sooner not later: Children are the driver for improving FH care

Top of the agenda for the 2014 FH Global Summit was children with FH. Diagnosing FH at a young age is critical to ensure that lifestyle intervention and treatment for high cholesterol are started early, to avoid the life-threatening consequences of this disorder. This goal is achievable by raising awareness of FH and partnering with the clinical community.

Prof Christie Ballantyne, Co-Chair FH Global SummitEarly diagnosis is the key to optimising therapy and compliance.

– Prof Christie Ballantyne, Co-Chair FH Global Summit

Baylor College of Medicine, Houston, Texas

Detecting FH in children can help to ensure that lifestyle becomes integral before adolescence, so patients don’t start smoking

– Dr Albert Wiegman, Academic Medical Center, Amsterdam, The Netherlands

As Katherine Wilemon (Founder, President and CEO of the FHFoundation) said: ‘We bring a message of hope for FH.

FH is treatable if recognised early,FH-Summit-04-300×225.png and patients can have a normal life. As a community, the FHFoundation clearly sees a disorder that is invisible to others – if we don’t take action now, who will?

There is overwhelming evidence from experimental studies that elevated low-density lipoprotein cholesterol (LDL-C) – ‘bad cholesterol’ – has a causal role in in coronary atherosclerosis. Recent research has shown that irrespective of the type of treatment, lowering high LDL-C reduces the risk of coronary heart disease (CHD) death.1 Additionally, there are data showing that people with lifelong low LDL-C levels due to a mutation in one of the genes affecting clearance of LDL from the body have a lower risk of atherosclerosis and CHD.2,3

Prof John Chapman | Co-ChairmanThese data provide the ammunition for targeting elevated LDL-C sooner rather than later to reduce the burden of CHD. Children are therefore the key target for screening and intervention.

– Prof John Chapman, Co-Chair FH Global Summit

INSERM, Pitié- Salpétrière Hospital, Paris, France

However, to achieve this it is clear from discussions at the FH Global Summit that a number of issues need to be addressed, involving concerted action from across all players in FH management.

Screening under the spotlight

Recent studies clearly make the point that FH is one of the most common inherited conditions, now though to affect about 1 in 230 people.4 However, evidence from across the world shows that with few exceptions, <1% of people with FH are diagnosed.

Dr Marina Cuchel | TherapistThis failure in FH diagnosis also extends to the USA. According to Dr Marina Cuchel, Institute for Translational Medicine and Therapeutics, University of Pennsylvania:

In one of the wealthiest countries in the world, FH care is sadly lacking. Although estimates suggest that about 1.5 million people may have FH, 90% are not diagnosed. There are gaps in patient identification, prevention of cardiovascular disease, treatment, and awareness of FH. The USA, like most countries, needs to do better.

Other countries provide some insights into how change can be achieved. Registry data are critical to defining the status of FH care in individual countries, as shown in the Netherlands, Spain, the UK and Japan.

The FHFoundation has already highlighted that family history (F) and high cholesterol (H) are critical for screening for FH: F + H = FH.  However, family history can often be poorly reported.  The FAMCHOL study in the UK tested the feasibility of incorporating computerised patient-specific reminders as a prompt for primary care physicians to screen for suspected FH.5 Family history of premature CHD was a key determinant of the likelihood of FH; however, this was often poorly recorded. Prof. Nadeeem Qureshi, University of Nottingham who leads the FAMCHOL study said: Targeting the family care interface is critical for improving FH detection. But we also have to improve how we record family history.

It is crucial to know your family history. FH is an asymptomatic disorder; the first symptoms may be last day of your life. Clearly, we need better tools for family history.

 – Prof Christie Ballantyne, Co-Chair FH Global Summit

The FHFoundation has been active in collaborative projects with the academic and clinical community to improve FH care. One of the key projects is CASCADE FH: CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia, initiated in early 2014.6 Dr Joshua Knowles, Stanford University Medical Center presented early data (11 centres recruiting 1,236 patients to date) showing the gap in understanding about the importance of screening family members (see box).  CASCADE FH should expand to 25 centres over the next 12 months.


Gaps in FH Care: Insights from CASCADE FH: the only US Registry in FH

  • Suboptimal care: while 76% of patients are on a statin, only half are receiving maximal doses
  • Inadequate patient information:

-65% do not understand the treatment options in FH

-60% do not understand the need for early treatment

30% do not understand the importance of screening family members

2015 will see the launch of FIND FH, which aims to harness ‘machine-learning technologies’ using a number of databases (claims, clinical and laboratory) to provide an algorithm that will help clinicians recognise FH in the USA.  Ultimately, it is hoped that FIND FH will help to drive enrolment in CASCADE FH.

FH is a family disorder; each FH case typically leads to identification of a further 8 cases from cascade screening. Evidence from Europe and beyond indicates that the combination of genetic testing and measurement of lipids is the optimal approach and is cost-effective. 

On a patient basis, screening has a low price for obvious benefit; for the population, while price is high, there is also high benefit

– Dr Kees Hovingh, Academic Medical Center, Amsterdam, The Netherlands

In the US, however, there has been much debate about the role of genetic testing in FH screening.  In collaboration with the University of Pennsylvania, the FHFoundation is investigating this issue.  As discussed by Professor Dan Rader, the I FIGHT study will enrol patients with FH based on clinical criteria (LDL-C levels ³220 mg/dL or 5.7 mmol/L), identified from the University of Pennsylvania Health Service. Patients will be randomised to cascade screening with both lipid measurement and genetic testing for FH mutations, or lipid measurement alone. Both groups will receive the same information about their condition directly from a trained genetics counsellor. Recent research has shown that direct contact is the best motivator for family members of FH patients to attend cascade screening.7

Dr Seth J. Baum |Boca Raton Regional HospitalWe need to think out of the box, using technology and patient-driven approaches to improve FH detection.  We also have to recognise the impact of genetic screening, taking account of practical, cost and legal issues

 – Dr Seth J. Baum, Boca Raton Regional Hospital, Florida

Education, education, education………………

Education is critical for improving FH awareness, targeting patients and healthcare providers, as well as third party payers and policy makers.

While the FHFoundation focuses on the needs of patients, there is clear impetus for education among other FH stakeholders. Primary care is one priority group, being at the interface for FH detection. Indeed, in the Australian model of FH care, much has been made of the role of FH Champions, driving education and awareness among primary care.

FH Champions can raise awareness and address many of the questions that primary care physicians have about FH, and emphasise the importance of measuring LDL-C levels in children of affected patients.

– Prof Gerald Watts, University of Western Australia, Perth, Australia

To successfully identify children with FH, we need to differentiate FH from the dyslipidaemia of obesity, so that clinicians have a better understanding of the factors affecting disease progression

– Dr Sam Gidding, Nemours Biomedical Research, Wilmington, Delaware  

Many of the delegates made the point that education needs to go back to basics, targeting the way that clinicians are taught about the science of lipids and lipid-related conditions, during both pre- and post-graduate training. This is especially important in the light of recent research showing that FH varies between patients, both in terms of its presentation and the genetic mutations causing FH. Additionally, treatment response to statins varies. These findings underline the need for education to emphasise the importance of monitoring LDL‑C levels for optimal FH recognition and management. 

We need guidance on the responsibilities for education of providers and healthcare professionals, pharmacists, institutions and public health policy makers.

Dr James Underberg, NYU, New York

Collaboration with the food industry might also have a role in targeting education in schools, to help to inform about a healthy diet, critical for the long-term management of FH, as well as to avoid lifestyle-related dyslipidaemia in non-FH children.

Starting young, teaching FH families what to eat is important, as adherence with lifestyle can help in avoiding future heart attacks– Dr Rodrigo Alonso, Clínica Las Condes, Chile

Going forward

Breaking down barriers is crucial for patients and their families. The FHFoundation plays a key role in providing multi-language education, dealing with many of the issues affecting patients.  Additionally, in its patient advocacy role, the Family Heart Foundation has been a key driver in the campaign for FH to be recognised as a specific medical condition with unique ICD10 codes, which in turn will drive FH awareness. This should be ratified during 2015.

However, to address the underdiagnosis and undertreatment that underpins the deficiencies in FH care, it is important that the FH community acts collaboratively to improve screening strategies, FH management and education. In 2015, the FHFoundation looks forward to providing more results from CASCADE FH, as well as news following the launch of FIND FH and I FIGHT.

Ultimately, with finite resources for healthcare, we need a unified global definition of FH as a basis for policy to drive forward improvements in the detection and management of FH.’

– Professor John Chapman, Co-Chair FH Summit



1. Ference BA et al. J Am Coll Cardiol 2012;60:2631-9

2. Saavedra YG et al. Arterioscler Thromb Vasc Biol 2014 [Epub ahead of print]

3. Cohen JC et al. N Engl J Med 2006;354:1264-72

4. Nordestgaard BG et al. Eur Heart J 2013;34:3478-90a.

5. FAMCHOL. Available at: https://public.ukcrn.org.uk/search/StudyDetail.aspx?StudyID=13525

6. O’Brien EC et al. Am Heart J 2014;167:342-349

7. Allison M. J Cardiovasc Nurs 2014 [Epub ahead of print].

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