Rare Community Profiles

Rare Community Profiles is a new Patient Worthy article series of long-form interviews featuring various stakeholders in the rare disease community, such as patients, their families, advocates, scientists, and more.

Heart Attack at 27: How an HoFH Diagnosis Allowed Peter to Live a More Empowered Life

When Peter was a teenager, there was nothing he loved more than wrestling. He joined his high school’s wrestling team during his freshman year, eager to begin. But by the time Peter hit his sophomore year, his energy levels dropped significantly. He struggled to run a mile without feeling out of breath. It felt, he explains, like his physical abilities were regressing. The more he worked out, the more his endurance dropped and the worse he felt. By senior year, running a mile was nearly impossible. Because doctors couldn’t find anything in the tests they ran, they figured it was psychosomatic—all in Peter’s head. He shares:

“I was a relatively healthy, 5 ’11”, 135-pound kid, so everyone gave me a really hard time about my physical abilities. It messed with me emotionally that nobody believed what I was going through. I ended up leaving the wrestling team during my senior year.”

Looking back now, Peter sees that his health problems were symptoms of a larger issue: his homozygous familial hypercholesterolemia (HoFH), which he was diagnosed with in his late 20s. He is now committed to raising HoFH awareness, and encouraging education on a greater scale, so that nobody else has to face the difficulties or trauma he did.

In his interview, Peter discusses his story (and his son’s subsequent diagnosis), the most challenging part of living with a rare condition, and the need for more focus on mental health and wellness in rare disease.

Peter’s Story

As Peter continued through his teenage years and early twenties, soft tissue bumps began forming around his joints. The lumps on his elbows were the size of golf balls. Peter’s primary care physician (PCP) simply removed the lumps. He explains:

“The doctor told me that it wasn’t cancerous, just fatty tissue and that it was probably genetic. He kind of pushed it aside and said, ‘it is what it is.’”

Given his doctor’s lack of concern, Peter also pushed aside the issue. Instead, he focused on founding and launching his company in his early 20s. As many founders know, this process is often marked by lots of work and little sleep. So when Peter felt run-down, he attributed it to his workload.

When Peter was 27, he was at the office early when he was hit with debilitating lightheadedness. He rode it out, figuring it was exhaustion. Although it didn’t go away 100%, he began feeling better—especially as he celebrated a wedding in Napa that weekend. On the way home, however, he suddenly found himself feeling incredibly sick, nauseated, and uncomfortable. Says Peter:

“Normally, I love road trips and I love to drive. The fact that I was physically struggling with driving really stuck out to me as a problem. I ended up in the Urgent Care at midnight. They thought I was doing some illicit substance and were hesitant to treat me at first. When testing showed that I had positive markers for a heart attack, things became much more serious.”

The doctor called the on-call cardiologist to ask what to do, at which point the doctor was asked whether Peter had bumps on his joints. Peter remembers it as being surreal. As the staff realized that it could be HoFH, Peter was rushed to the cath lab; Four stents were placed that night and an additional 10 were placed over the next 10 years.

Homozygous Familial Hypercholesterolemia (HoFH): An Overview

There are two forms of familial hypercholesterolemia: homozygous and heterozygous. Homozygous familial hypercholesterolemia (HoFH) is the rarer and more severe form. In short, HoFH is a rare and inherited type of high cholesterol characterized by low-density lipoprotein cholesterol (LDL) levels that are significantly higher than average. People with HoFH may have LDL levels ranging from 400-1000 mg/dL (4-10x more than average) or higher. Without treatment, HoFH can lead to heart disease. Symptoms can include:

• High cholesterol levels
• Rapid heart rate
• Chest pain
• Shortness of breath
• Xanthomas and xanthelasmas (yellowish fat deposits under the skin and around the eyes)
• Corneal arcus (white/gray/yellow cholesterol ring around the cornea)

Peter explains that, at diagnosis, doctors were able to share what HoFH was at a high level. They told him that certain medications and statins were treatment options, but that there were no dedicated treatments specifically for his condition. The cardiologists he saw were relatively unfamiliar with HoFH. He has done research on his own and has found more information written in layman’s terms. This has helped him develop the tools to manage his condition. He explains that:

“Eating healthy has always been key to managing HoFH, alongside exercise and new targeted medications and treatments. These new medications dramatically lowered my cholesterol whereas statins and combination treatments never comfortably reduced my levels.”

Therapeutic options include LDL-apheresis, statins, ezetimibe, lomitapide, and a ANGPTL3 inhibitor called EVKEEZA (evinacumab-dgnb).

Follow-up Care

Every eighteen months, Peter would return to the doctor, mention that he felt like something was clogged up, and have a stent placed. He was on 12 medications as doctors wanted to be aggressive in his treatment. At 36 years old, Peter underwent a triple-bypass surgery.

Because HoFH is an inherited condition, Peter later had his sons tested when they were young. While one son does not have HoFH, the other son was diagnosed at five years old with a cholesterol level of more than 450 mg/dL. Says Peter:

“Luckily, by testing him early, we were able to get in front of it. My condition caused damage to the heart muscle tissue, so my goal was avoiding long-term damage for my kids. We have had discussions about what HoFH is and why he needs treatment. But it largely doesn’t impact his life.”

To Peter, his family’s story highlights why people need to be more educated on rare conditions—and why we need to work so hard to combat stereotypes on a larger scale. In terms of high cholesterol, he says, one stereotype is that high cholesterol levels only affect older, overweight, or sedentary individuals:

“But it can affect people of all ages, weights, and conditions. If I can advocate for cholesterol testing in kids, it would be so helpful in identifying potential issues earlier. That can prevent the mental and physical issues—the torture of it all. It could have changed many portions of my outcome. I want to educate cardiologists and doctors so they know that, if these symptoms arise, they can test. Also, physically, I want people to be more assertive if they are concerned about their heart or if the doctors don’t want to do testing. Double-check everything for yourself.”

The Importance of Mental Health Care

To Peter, the diagnostic and treatment odyssey often focuses solely on the physical issues. However, he believes that mental health care should be part of this journey. He shares:

“When I was first diagnosed, I was in the dark. I asked what my prognosis was, and doctors said that they didn’t know, but it wasn’t good. Emotionally, it was hectic. I had guilt about potentially passing it on to my children because I want them to live a long, healthy, normal life. The unknowns are scary. I couldn’t do activities like I used to. People get this life-changing news and doctors explain how to deal with it physically, but not emotionally. You forget, because you’re so focused on treatment, that there’s more to treat. I went through phases of depression. It got to the point where, as more and more surgeries approached, I wondered why I was even doing this. So having that mental health support built into the diagnostic process would be crucial in improving outcomes.”

For those who are newly diagnosed, Peter drives home the importance of mental health support. He also advises people to do their own research, get their family tested, find a cardiologist who is familiar with HoFH and up-to-speed on the latest info, and keep asking questions. He reminds families:

“It’s a manageable disease and, if managed correctly, you’ll be okay. Stay proactive and stay positive.”