Shots: 

• Homozygous Familial Hypercholesterolemia (HoFH) is a rare genetic condition that affects approximately 1 in 250,000 Americans. It is characterized by the presence of two genetic mutations that lead to extremely high levels of LDL cholesterol. 

• In this interview, Sam Gidding and Allison Jamison from the Family Heart Foundation/ emphasize the critical need for enhanced cholesterol screening to facilitate the early diagnosis of HoFH. 

• As a HoFH patient herself, Allison shares her personal journey with PharmaShots, inspiring others through her advocacy and resilience. 

Saurabh: For our audience, could you shed some light on homozygous familial hypercholesterolemia?   
Samuel: HoFH is a rare condition caused by having two genes that impair the liver’s ability to get cholesterol from the blood. This leads to very high cholesterol levels, which in turn may damage arteries to the heart possibly causing heart attacks early in life, including childhood, and a narrowing of the aortic valve which can require surgery. Fortunately, it is rare, impacting 1:250,000 people in the US. Cholesterol lowering treatments can improve life expectancy but is difficult as the genetic abnormality makes it more difficult to lower cholesterol solely with medication.   

Saurabh: Do you believe there are gaps in the system that result in late diagnosis of the disease?  
Samuel: HoFH is typically diagnosed when very high cholesterol is identified or physical signs of cholesterol deposits in the skin or eyes are identified. However, since cholesterol screening is not done routinely and the skin and eye findings are often misdiagnosed, the diagnosis is often made late. Since the damage from HoFH is caused by exposure to high cholesterol, every year lost to misdiagnosis shortens life expectancy.  

Saurabh: What would be the possible plan of action to remedy the aforementioned gaps?  
Samuel: Improved cholesterol screening is the best way to identify HoFH. Also recognize high risk situations like having family members with a history of heart attacks early in life or high cholesterol. Since high cholesterol is often inherited, and not just due to diet, acting on a family history suggestive of genetic high cholesterol and screening family members can help. Besides identifying HoFH, finding people with one gene that causes high cholesterol (heterozygous FH) is also important as having one bad gene also can sometimes lead to early heart attacks.   

Saurabh: Could you summarize your experience of being diagnosed with HoFH with the audience?  
Allison: My family has a very strong history of heart disease: my grandfather died of a heart attack at 42, and my own father had his first of many heart attacks at 28. We knew we had a genetic condition, but we didn’t know exactly how it worked or what it meant. When I was three, my parents noticed bumps on my heels and knees that were initially dismissed as dermatological, but when I was five, given our family history, my parents had my cholesterol checked. It was over 850. My brother and sister also had high cholesterol, but nothing like mine. We only knew of heart disease on my dad’s side, so I was diagnosed with familial hypercholesterolemia, but we believed my siblings and I all had the same type. I started treatment young, the same treatments my sibling were on. Around 13 I was also diagnosed with aortic stenosis, which we really viewed as unlucky but unrelated to my high cholesterol. While my siblings were able to get their levels down to reasonable levels on treatment, my LDL stayed stubbornly high. I was otherwise healthy and active. At 28, due to the high LDL I still had, I required open heart surgery for an aortic valve replacement from aortic stenosis, and a bypass of my LAD coronary artery. I was hopeful that intervention would be my last. But at 35, during a routine treadmill stress test, I suffered a heart attack and sudden cardiac arrest. Three days later I had a second open heart surgery, for another bypass and mitral valve replacement. At that point, I went to my cardiologist and told him we needed to do more. The treatment I was receiving was not enough to stop the heart disease. He agreed with me, and a few weeks later found a clinical trial he thought might be a fit. Through the intake testing for that trial, it was finally discovered through genetic testing that I actually had homozygous FH. 
 
While that diagnosis was a little frightening, especially given the information I was able to find online about HoFH, it was also something of a relief. I finally knew what made me different from my siblings, why I didn’t respond the same way they did to treatments, and why my LDL levels were so hard to bring down. With the knowledge of my actual diagnosis, I felt empowered to do more for myself and my health. I found the Family Heart Foundation, an organization that serves families living with FH, and became an advocate for awareness, and I have continued to be involved in clinical trials, so that others living with HoFH can have even better care in the future. 
In hindsight, I clearly had all the signs pointing to an HoFH diagnosis, but my true diagnosis was missed for a very long time. I am grateful to know my own truth today.  

Saurabh: As a person who lived with undiagnosed HoFH for a large part of your life, how would an early diagnosis have made a difference?  
Allison: I believe that if I had known earlier that I had HoFH, I would have gotten more aggressive treatment earlier. If my parents had known, I think they also would have pushed more to find effective therapies for me. I could have been involved in clinical trials earlier, perhaps gotten my LDL levels down earlier. The effects of HoFH are a result of a lifetime of exposure to high LDL, so getting LDL down as early as possible is critical for preventing heart disease. It’s hard to know for sure, but it’s possible I could have delayed or even avoided the surgeries I’ve had, and possibly prevented the permanent heart damage that I live with now as a result of my heart attack. But even if I had not been able to avoid surgical interventions, if I had known my diagnosis earlier, I would have spoken up more, and more loudly, about my diagnosis with my doctors, my family, and anyone else who would listen.  

Saurabh: What message would you like to send to other people living with HoFH?  
Allison: My best advice is to advocate for yourself. Have meaningful conversations with your healthcare providers about what options are available to you. If your LDL isn’t where you need it to be, ask your doctor to work with you on other ways to try to get it down. Don’t be afraid to push to get the care and treatment you need. HoFH is a rare disease, so you may have a provider who isn’t as familiar with it, and may not be aware that it’s very likely you need multiple therapies to get results for your LDL levels. Also, individuals living with HoFH are also members of families living with FH, so talk to your family members, get your children’s LDL levels tested, and make sure everyone who needs treatment is finding it. 
 
I also think it’s incredibly important to know that today, there are so many more options for treating HoFH. There is real hope to be able to get your LDL level to a safe zone. Early diagnosis and early treatment can truly make a difference in long term outcomes, so it is a time of great hope and optimism for those of us living with HoFH. And even though HoFH is rare, there is support for us. At the time of my diagnosis, I had never met another person with FH that wasn’t a family member, much less another person with HoFH. That’s why the Family Heart Foundation has been a fantastic organization for me, because I have met and gotten to know others who are living with HoFH along with me. 

Image Source: Canva 

About the Author: 

Samuel S. Gidding, MD   

Current:  Professor, Geisinger Department of Genomic Health, part time  

Ongoing funded clinical/epidemiologic research: IMPACTFH, CARE-FH, and RISKFH (NIH); Innovative Cardiovascular Health Program (CDC)  

Member Science Committee of the World Heart Federation  

Consultant to Esperion for clinical trials of bempedoic acid in children  

Editorial Boards: Hypertension, JAHA (guest editor), Circulation    

Prior positions:     

Board Member, FH Europe: February 2020-December 2023    

Medical Director, FH Foundation: May 2018-December 2019    

Cardiology Division Head, Nemours Cardiac Center, A.I. duPont Hospital for Children; Practiced Pediatric and Preventive Cardiology for the Nemours Cardiac Center for 18 years; became cardiology division head in January 2008: July 2000-June 2018  

Interim Division Head, Pediatric Cardiology; Children’s Memorial Hospital, Chicago, IL  

Associate Professor of Pediatrics and Preventive Medicine, Northwestern University Medical School  

Sixteen years of experience in Chicago as a clinical and academic cardiologist including organization of several outreach clinics, introducing fetal echocardiography in the region (1986), organizing one of the first preventive cardiology clinics in the country (1987), participating in cardiac transplantation program (1990), served as interim division head for 4.5 years of my tenure there: July 1984-June 2000   

Chairmanship positions:  American Heart Association Epidemiology and Lifestyle Spring Scientific Sessions Program Committee. American Heart Association Committee on Atherosclerosis in Youth, Illinois Coalition Against Tobacco, IIIrd International Conference on Atherosclerosis in Youth, Children’s Memorial Hospital IRB; Pediatric Lipidology Primer at ISA 2018    

Past clinical interests included preventive cardiology, general pediatric cardiology, echocardiography, exercise, and heart failure/transplantation.  Prior funded research includes co-investigator for the echocardiography reading centers of the TODAY and CARDIA studies and a study on cardiovascular risk in Down syndrome.  Was a co-investigator of the DISC study and collaborated with the Bogalusa Heart Study. Was principal investigator of a randomized trial for fish oil treatment of moderate hypertriglyceridemia in adolescents. Participated in many local studies on congenital heart disease, on the cardiovascular morbidity of obesity, and early imaging of atherosclerosis.   Helped design the DO-IT trial, a statin intervention trial in adolescents funded by the Pediatric Heart Network (NHLBI) and was a site co-investigator for the AMGEN pediatric PCSK9 inhibitor trial. Member CHSA study section.    

Career accomplishments:   

Has published over 400 scientific papers including over 200 scientific articles, 35 guidelines and consensus statements, 40 review articles and 40 editorials.    

Founded PEDAL, a consortium dedicated to prevention of adult onset lipid related diseases beginning in youth.  Was a member of the ACC/AHA task force on clinical practice guidelines and participated in the development of new adult and pediatric blood pressure guidelines.  Was a member of the scientific advisory board and publication committees of the FH Foundation and FH Europe. Has previously worked on guidelines/scientific statements on familial hypercholesterolemia, hypertension, tobacco, obesity, nutrition, diabetes, and congenital heart disease for AHA, ACC, AAP, NHLBI, WHO, CDC, EAS, NLA, IAS, and ADA. Was a member of the CHSA study section for NIH and ad hoc reviewer multiple teams. Has been a visiting professor at the Cleveland Clinic, University of Miami, University of Pittsburg, University of West Virginia, Children’s Hospital of Philadelphia, Texas A and M University, Brown University, the University of Hawaii, Montefiore Hospital, and the University of Michigan and lectured internationally. Has given 10 named lectures.    

Training:  UMDNJ-RWJ (Medical School) 1974-78, SUNY-Upstate (Pediatrics) 1978-81, University of Michigan (Cardiology) 1981-84  

Allison Jamison 

Allison Jamison has served as a volunteer Family Heart Ambassador since 2017. Due to a strong family history of heart disease, the presence of xanthomas, and significantly elevated LDL levels, Allison was diagnosed with familial hypercholesterolemia (FH) at age 5. However, it wasn’t until she underwent two coronary artery bypass surgeries, an aortic valve replacement, and suffered a heart attack, all before age 35, that she was finally diagnosed with Homozygous FH (HoFH). Learning of her HoFH diagnosis inspired Allison to seek out resources and answers, and she joined the Family Heart Foundation as an Ambassador in 2017. She became a Board Member in 2018, and now serves on the Family Heart Executive Committee as Treasurer, and represents the patient voice within the organization, providing feedback on content, support for the Ambassador and volunteer programs, and mentorship to other Ambassadors. Allison has served as a co-author on medical journal articles addressing the imperatives of diagnosis and care for FH and HoFH.    

Allison earned her BS in Commerce from the University of Virginia, and her MBA from the University of Texas at Austin. She currently works as the Assistant Dean of Admissions for the Daytime MBA program at Duke University’s Fuqua School of Business. Allison lives in Ohio with husband and two children, both of whom also have FH.   

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