I lived with Familial Hypercholesterolemia (FH) for my whole life, but didn’t learn about my diagnosis until I was thirty-five (35) years old. There were so many warning signs along the way that were missed or ignored, and I want to share my story so that it doesn’t happen to someone else.
When I was 21 years old, I was encouraged by my mother to get my cholesterol checked because she had a history of high cholesterol. I didn’t think it was necessary as I ate well, worked out, and was otherwise “healthy.” At least I thought so. Much to my chagrin, I went to the doctor and later found out that my LDL levels were in the 400’s. I was unsure what that meant, and it even shocked my primary care physician and cardiologist. I was an active college student and remained very active in sports. I felt great. It was the first time someone had even suggested I get my cholesterol checked, despite my mother having high cholesterol for most of her life.
I was immediately put on a statin and really didn’t pay much attention to it after that (apart from discussing it at my annual checkup). I continued to live my life with no effect or disruption for the next ten or so years. Around 2014 I started to develop severe muscle cramping in my legs, so my doctor took me off of the statin and the cramping ultimately went away. We had assumed I had become statin intolerant. My doctor ended up prescribing a PCSK9 inhibitor, however, my insurance company initially rejected my doctor’s Prior Authorization request, delaying this treatment by almost 8 months. I went a little over a year with no medication at all. I had no idea what damage this was doing to me internally because, again, I felt fine.
In 2017 and 2018, I experienced chest pains on several different occasions. As a result, I went to my cardiologist and explained the pain to her. She told me she thought it was heartburn and prescribed me Prilosec (despite me having a personal and family history of high cholesterol). I passed each of my stress tests with flying colors, yet still had very uncomfortable tightness in my chest.
Around the same time as I was experiencing the chest pain, my five year old son was developing bumps on his skin. We were told by his pediatrician that it was likely molluscum. After further testing we found out that it was not in fact molluscum, rather, he had developed significant cholesterol deposits, known as xanthomas, due to extremely high LDL cholesterol. He was diagnosed with the rare and most severe form of FH, Homozygous FH (HoFH). A coronary CT scan revealed that at the age of 5 he already developed a 90% blockage in his right coronary artery.
Despite the fact that my own LDL cholesterol was in the 400s, I had a family history of high cholesterol, and I was experiencing chest pain myself, my son’s diagnosis of HoFH was the first time I heard the term “Familial Hypercholesterolemia.”
The chest pains continued for me, sometimes even when sleeping. I was running a lot at the time as I was training for a road race. If I ran more than a telephone pole length, I would have to stop and sit. Walking up hills would cause my chest to be extremely tight and even yardwork would cause me pain. I went in for another stress test and, again, it was perfectly fine despite how uncomfortable I felt.
In the summer of 2018, I was in a business meeting and I had an episode where my left arm went numb and my vision became very blurry. I was fatigued, felt very ill and almost fainted. However, a few hours later I felt completely fine. My wife continued to push me to go back to my cardiologist to get further testing. She had been going to the cardiologist constantly with our son for his testing and she knew more could be done and that these pains were not in fact heartburn.
Luckily, after much pushing on my cardiologist, I was able to get a cardiac catheterization scheduled for the next day. During the cardiac catheterization they found that my Left Anterior Decending (LAD) artery was 85% blocked and the right coronary artery was 85% blocked; two stents were placed immediately.
I am extremely lucky that the situation was not worse. After that, I never went back to the same healthcare system or group of doctors.
I found an amazing team of doctors in Boston, Dr. Jorge Plutzky (Brigham and Women's Hospital) and Dr. Paul Huang (Massachusetts General Hospital), who truly understand FH and the importance of staying on top of the right medications and cardiac testing. My new cardiologist even put me back on atorvastatin after my stents were placed and said the leg pain I was experiencing years earlier could have been related to the coronary blockages and not in fact the statin. As such, I was put on a combination of statin, ezetimibe and a PCSK9 inhibitor. I have never experienced leg pains again. This combination of medications has brought my LDL down between 50-75 mg/dL, where my doctor wants it, and I feel healthier than ever.
The Family Heart Foundation has provided us with a supportive network and the resources necessary to take on this journey. We are truly grateful for the community it has created and the hope it has instilled. Although my treatment is under control, we have two children who have HoFH and the journey for them will be much more challenging. Our nine year old son will be receiving his 200th LDL Apheresis treatment next week and our four year old daughter has developed her first cholesterol xanthoma. We are working with her cardiologist to determine when we can start her on a more aggressive form of treatment (she is currently on rosuvastatin and ezetimibe). It is our hope that in time there will be additional options for us, individuals living with FH and HoFH, and that our children will have an easier path ahead of them.
Advocate for Awareness
Family Heart Foundation