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Living With An Ultra-Rare Inherited Cholesterol Condition: One Family’s Story
We’ve all heard about the dangers of high cholesterol. While our body actually needs this waxy substance to build healthy cells, too much low-density lipoprotein cholesterol (or LDL-C, sometimes referred to as “bad cholesterol”) can become a serious problem.
Lifestyle is a considerable determinant of our cholesterol levels. But did you know that our genes also play a significant role? In fact, there's a genetic condition that leads to high levels of LDL-C called familial hypercholesterolemia (FH). There are two types of FH, the more common form being heterozygous familial hypercholesterolemia (HeFH) and the rarer form, associated with extremely high LDL-C levels, being homozygous familial hypercholesterolemia (HoFH). And while rare, HoFH is worth knowing about.
What is homozygous familial hypercholesterolemia (HoFH)?
HoFH is an ultra-rare inherited condition that happens when two copies of genes typically associated with FH are inherited—one from each parent. This genetic disorder causes cholesterol to be more than four times the typical level. While this is serious, many patients aren’t diagnosed, or only find out about it later in life.
Based on population estimates, approximately 1,300 people in the U.S. have HoFH. And while this condition takes a huge toll on these individuals, it may also affect their families (especially since HoFH is inherited). Only 5% of rare diseases like HoFH actually have an FDA-approved treatment.
One family learns about familial hypercholesterolemia (FH)
At 43 years old, Scott had always been one of the fittest guys in the gym. But one day, while working out, he experienced severe chest pain that eventually brought him to the hospital for testing. Startled by the results, Scott quickly underwent bypass surgery—just days after his gym incident.
Despite being a fit 43-year-old dad, Scott was diagnosed with HeFH. Because of that, a nurse suggested that he have his kids’ cholesterol levels checked as a precaution. That’s when he learned that Chloe, his five-year-old daughter, had extremely high total cholesterol levels (upwards of 790 mg/dL, while < 100 mg/dL is considered a desirable level).
A five-year-old diagnosed with HoFH
Shocked by the test results, a lipid specialist informed Scott that Chloe had HoFH. Scott spent the next six years devoting his life to helping navigate his daughter’s condition. Chloe was prescribed statins and other cholesterol-lowering medications. Despite trying different treatments, Chloe’s cholesterol remained abnormally high. Her next step was LDL apheresis, a nonsurgical therapy similar to dialysis, that separates and removes low-density lipoproteins from the bloodstream.
By the time she started this treatment, Chloe was iron deficient and immunocompromised in the midst of the COVID- 19 pandemic. While the treatment did improve her cholesterol, she found it difficult to maintain this routine. She was behind in school from doctor’s appointments and days spent receiving apheresis treatment. Scott noticed that she was struggling. It was around this time that Scott, an avid motorcycle rider, decided to teach Chloe how to ride and work on bikes, which slowly began to boost her confidence.
New goals on the horizon
With Chloe’s HoFH taking a serious toll on the family, Scott found new hope when he learned about evinacumab-dgnb, an LDL-C-lowering drug that worked differently than other medications. He followed the clinical trials closely, until the drug was approved as EVKEEZA® (evinacumab-dgnb) in February 2021.
EVKEEZA is an FDA-approved angiopoietin-like 3 (ANGPTL3) inhibitor treatment used with other LDL-C lowering medicines for children as young as five years old to lower extremely high levels of LDL-C caused by HoFH. Chloe received her first EVKEEZA infusion the year it was FDA-approved and has since experienced a substantial reduction in her LDL-C levels.
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Select Important Safety Information
EVKEEZA 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.
Please see additional Important Safety Information below and click here for full Prescribing Information.
The family was able to streamline Chloe’s appointments and she began receiving EVKEEZA and apheresis treatments on the same day. Chloe’s cholesterol levels became manageable, and she takes her treatment seriously while also prioritizing school and time with her friends.
As Chloe has gotten her driver’s license, Scott has returned to the gym—with new time and space to care for himself again. “Today, I’m grateful for that ‘worst day of my life,’” Scott says. “Without that experience, I wouldn't have found out about Chloe’s condition and embarked on this path to discover a treatment that works for her.”
Together, the father-daughter pair decided to use their shared love of motorcycles to bring awareness about HoFH and FH to the community. As HoFH is a rare, inherited type of FH, Scott had their motorcycle painted by a classic hot rod painter to represent the genetic defects associated with the condition, possibly making it the only FH awareness-themed motorcycle in the world. The motorcycle now serves as a conversation starter, and they hope by bringing awareness to this condition that people may learn about FH and recognize the symptoms sooner.
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How does EVKEEZA work?
So how does this treatment work? EVKEEZA was invented by Regeneron, using the company’s VelocImmune® technology. EVKEEZA utilizes a unique pathway that works by blocking a specific protein, angiopoietin-like 3 (ANGPTL3), leading to reduction in LDL-C.
With the approval of EVKEEZA, those diagnosed with HoFH (and their families) now have a much-needed additional treatment option for young children and adults. And, just like Scott and Chloe, people can find a way to help manage their rare disease.
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INDICATION
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.
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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.
- 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.
Please see full Prescribing Information, including Patient Information.
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