Most people are aware of high cholesterol. But one thing many folks don’t know is that some people can actually inherit it by way of a rare, genetic disorder — a condition that can cause cholesterol to be more than four times the healthy level. Here, discover more about this serious genetic disorder through one father’s powerful story — from getting diagnosed to finding a treatment that helps, and coping with his son’s own eventual diagnosis with the same rare disorder.
Growing up, Peter was always active, running around with his twin brother and joining his school’s wrestling team. But at the age of 16, he started having trouble breathing. Despite taking asthma medication and training harder, he only felt weaker, to the point where he couldn’t even run a mile by age 17. “I couldn’t do the activities that I had enjoyed doing my whole childhood,” Peter tells Scary Mommy. By the time he was 19, Peter developed mysterious lumps on his knuckles and elbows that began first as tiny bumps, but by the time he was 21, they were the size of golf balls.
Clearly, something was wrong — and yet, no doctor could give him a clear answer. As a teenager, his physician told him his shortness of breath was purely psychological. As an adult, his primary care physician called his lumps “benign fatty buildups,” and removed them — but couldn’t help explain what was going on. Things only got more perplexing from there. One morning in his late 20s, Peter woke up with a terrible case of what he thought was severe heartburn. When medication failed to resolve his symptoms, he begrudgingly headed to an urgent care clinic.
At the clinic, doctors ran blood tests. Within a few hours, the on-call cardiologist had a diagnosis that wasn’t heartburn, after all. Peter was told that he had experienced a heart attack, based on certain protein markers that showed he had heart damage. The doctor also found a rather surprising test result – his low-density lipoprotein (LDL) cholesterol, often referred to as “bad” cholesterol, was extremely elevated. In fact, it was nine times the healthy level. Based on these findings, the doctor told Peter that he had homozygous familial hypercholesterolemia, also known as HoFH.
The cardiologist explained that HoFH is a rare, but serious, hereditary disorder that shows up early in life. “HoFH is very uncommon but it can affect people of all ages, weights and conditions,” Peter points out. People living with HoFH experience extremely elevated circulating levels of LDL cholesterol, which can build up in their arteries, leading to progressive and early heart disease in individuals of all ages. Peter’s condition was so severe that he was rushed into surgery to have three stents placed in his heart at just 27 years old. The experience was jarring, but Peter was relieved to finally have an answer for his unexplained symptoms.
“Emotionally, it was hectic,” Peter notes. “I had guilt about potentially passing it on to my children because I want them to have healthy, normal lives. The unknowns are scary.”
By age 32, Peter had 14 stents placed in his heart — and by the time he was 36, he required triple bypass surgery because there wasn’t room for any more stents.
As a father of two adventurous sons, Peter was desperate to keep up with the activities they enjoyed, like off-roading in his truck, swimming at the beach and hiking. Over the years, he has tried a variety of different treatments as his cardiologist is always actively looking for new ways to help Peter get his LDL cholesterol to acceptable levels. He talked to his cardiologist and, in 2021, he was introduced to a treatment option called EVKEEZA (evinacumab-dgnb), a unique FDA-approved therapy that works by blocking a specific protein, leading to a reduction in LDL cholesterol, and is used along with other LDL cholesterol lowering medicines in people five years of age and older. It can cause side effects, including allergic reactions (including a severe reaction known as anaphylaxis), symptoms of the common cold, flu-like symptoms, dizziness, pain in the arms or legs, nausea, decreased energy levels and feeling tired or weak, but his cardiologist believed it could finally help Peter get his cholesterol levels to an acceptable level.
EVKEEZA requires monthly infusions, which Peter opted to have done in the comfort of his own home by a trained nurse (for some people, these infusions must be done at a medical center).
“Eating a heart-healthy diet that is low in saturated fat and cholesterol has always been important to managing HoFH, alongside exercise, medications and treatment,” Peter shares. “Adding this medication dramatically lowered my cholesterol, whereas just statins and other treatments never sufficiently reduced my levels. I finally feel like I have my cholesterol under control.”
A NEW NORMAL
Since adding EVKEEZA to his other cholesterol-lowering medications, Peter’s LDL cholesterol levels have dropped and are within the recommended range. He continues to do the same activities he enjoys with his sons — just at a slower pace.
Peter’s fears were realized when his oldest son was also diagnosed with HoFH at the age of 5. “Luckily, by testing him early, we were able to get in front of it,” Peter says. “My condition caused damage to my heart muscle tissue, so my goal was to seek early LDL-C lowering therapy to help my son avoid some of the challenges that I have faced. We have had discussions about what HoFH is and why he needs treatment, but it largely doesn’t impact his life.”
While the news was difficult to process, Peter is grateful that his son won’t have to face the same unknowns that he did—and that his own personal experience will help prepare his son for life with HoFH. Moreover, he’s passionate about helping physicians, other people living with HoFH and the parents of children with the disorder to better understand it and how to navigate the journey.
“High cholesterol can run in families, and for anyone with a higher genetic risk, my recommendation is to get tested since it may help identify potential issues much earlier,” Peter says. “For people who are active like me, I also want cardiologists and doctors to be more aware of the symptoms, even in seemingly healthy individuals, so they are more likely to test. Most importantly, people need to be their own best advocates and be more assertive if they are concerned about their health or if their doctors don’t want to do testing. This could make a huge difference for people living with HoFH seeking to gain control of their dangerously high cholesterol.”
Peter takes comfort knowing that medication is continuing to evolve, and that treatment options like EVKEEZA exist. He’s continuing to spend quality time with his sons, doing what they love most. Visit Evkeeza.com today to learn more.
EVKEEZA is an injectable prescription medicine used along with other low-density lipoprotein (LDL) lowering medicines in people 5 years of age and older with a type of high cholesterol called homozygous familial hypercholesterolemia (HoFH).
It is not known if EVKEEZA is safe and effective in people with other causes of high cholesterol. The effect of EVKEEZA on heart problems such as heart attacks, stroke, or death is not known. It is not known if EVKEEZA is safe and effective in children with HoFH under 5 years of age.
IMPORTANT SAFETY INFORMATION
Do not use EVKEEZA if you are allergic to evinacumab-dgnb or to any of the ingredients in EVKEEZA.
Before receiving EVKEEZA, tell your healthcare provider about all of your medical conditions, including if you:
- Are pregnant or plan to become pregnant. EVKEEZA may harm your unborn baby. Tell your healthcare provider if you become pregnant while using EVKEEZA. People who are able to become pregnant:
- Your healthcare provider may do a pregnancy test before you start treatment with EVKEEZA.
- You should use an effective method of birth control during treatment and for at least 5 months after the last dose of EVKEEZA. Talk with your healthcare provider about birth control methods that you can use during this time.
- Are breastfeeding or plan to breastfeed. It is not known if EVKEEZA passes into your breast milk. You and your healthcare provider should decide if you will receive EVKEEZA or breastfeed.
Tell your healthcare provider about all the medicines you take, including prescription and over-the-counter medicines, vitamins, and herbal supplements.
EVKEEZA can cause serious side effects, including:
- Allergic reactions (hypersensitivity), including a severe reaction known as anaphylaxis. Tell your healthcare provider right away if you get any of the following symptoms: swelling (mainly of the lips, tongue or throat which makes it difficult to swallow or breathe), breathing problems or wheezing, feeling dizzy or fainting, rash, hives, and itching.
The most common side effects of EVKEEZA include symptoms of the common cold, flu-like symptoms, dizziness, pain in legs or arms, nausea, decreased energy, and feeling tired or weak.
Tell your healthcare provider if you have any side effect that bothers you or does not go away. These are not all the possible side effects of EVKEEZA. Call your doctor for medical advice about side effects. You may report side effects to FDA at 1-800-FDA-1088.