For many people, a rare disease diagnosis can feel like life is over. For Angel, growing up with homozygous familial hypercholesterolemia (HoFH), a rare genetic condition characterized by extremely high cholesterol, sometimes felt limiting. She struggled to manage her cholesterol levels and sometimes felt self-conscious due to the xanthomas on her joints. But over time, Angel discovered a new boost of self-confidence and now aims to help others with the realization that their life can still be full and fulfilling. Angel shares:

“At the beginning of your HoFH journey, you may feel defeated. There may be highs and lows, but there is hope. Don’t ever give up. I had to tell myself multiple times throughout my journey that there is a brighter side. Do what you and your doctor think is best and one day, you’ll see the results. I’ve seen them. When the doctor says my total cholesterol is 136, I have this wide smile on my face because I’ve longed to hear these numbers. I know what you are going through and there will be a sunny day.”

Recently, Angel sat down with Patient Worthy to discuss her experience living with HoFH, what HoFH is, how she found her power, and the importance of being an advocate—personally and for others.

Angel’s Story

Growing up in Mississippi, Angel was a bright and vivacious child. She enjoyed coloring (which has since blossomed into a genuine love for all things crafting) and spending time with family. When Angel was around four years old, her mom noticed tiny knots forming under her skin. Her mother took her to the dermatologist as she thought it might be a skin disorder. But the tests performed by the dermatologist showed no issues.

But Angel’s mother wasn’t ready to stop searching for answers. Eventually, Angel and her mother were referred to a pediatrician who performed various tests, including bloodwork. Angel shares:

“The results showed that my LDL cholesterol levels were extremely high, around 1200 mg/dL. For context, cholesterol levels over 200 mg/dL are typically considered high.”

Since Angel was diagnosed at such a young age, her family had to make her aware of her condition and what it meant. She was always informed that she had high cholesterol. It wasn’t until her teenage years, however, that she did some research on her own and realized that her high cholesterol was actually the result of a rare genetic disorder called homozygous familial hypercholesterolemia (HoFH).

HoFH Journey Over the Years

Even after learning more about her disorder, Angel sometimes felt defeated. She would diet, exercise, and try to lose weight, but nothing seemed to work. Angel shares:

“I was doing everything right, but nothing was working. It made me question what more I could do and what I was doing wrong.”

One of the most frustrating parts of living with HoFh was dealing with the stares or judgment she received due to her xanthomas. The xanthomas popped up over Angel’s joints, making her feel self-conscious. She explains:

“I would hide them and wear clothes that specifically covered them. Whenever I was out, I had my hands hidden in a jacket or my pocket. People never asked what they were or why I had them, which was hard because I was open to telling them. I just got a lot of ugly stares from people.”

For those who did ask about her xanthomas, Angel was able to distill the information down and educate them. Some people thought that she had a skin disorder. Others have questioned whether she had some form of arthritis. Says Angel:

“I’ve had to make everyone aware that these are caused by my HoFH. Through this, I’ve also helped people to understand that having a rare condition isn’t always debilitating. Outside of the xanthomas, when people find out that I have HoFH, they wonder what my physical limitations are. People think that I shouldn’t be as active, or ask if I’m sure that there is ‘something wrong’ with me. I have to explain that yes, I have a diagnosis but it doesn’t stop me from doing the things I enjoy or the things I need to do.”

Homozygous Familial Hypercholesterolemia (HoFH): An Overview

There are two forms of familial hypercholesterolemia: heterozygous (HeFH) and homozygous (HoFH). Homozygous familial hypercholesterolemia is the rarer and more severe form of FH. As Angel explains:

“HoFH is a rare inherited disorder where your body produces extremely high cholesterol levels that are way higher than average.”

Genes that have been implicated in HoFH development include APOB and PCSK9. An estimated 1 in every 300,000 people globally has HoFH. It is important to seek treatment for homozygous familial hypercholesterolemia as, without treatment, it may lead to heart disease or other negative health impacts. Symptoms of HoFH can include:

• High cholesterol levels
• Shortness of breath
• Rapid heartbeat
• Chest pain
• A white or gray ring around the cornea
• Xanthomas (yellow, waxy lumps or patches on the skin, particularly around the knees, elbows, or knuckles)
• Xanthelasmas (yellowish fat deposits around the eyelids)
• Swollen or painful Achilles tendon
• Coronary artery disease
• Loss of balance and coordination
• Weakness in one arm or leg

Treatment Options

Currently, there are a number of available treatment options for HoFH. These include LDL-apheresis, statins, ezetimibe, evolocumab, lomitapide, and EVKEEZA (evinacumab-dgnb). Surgical interventions may also be needed.

Angel has undergone two open heart surgeries: one thirteen years ago, and the other just last year. Currently, Angel does apheresis weekly and also manages her condition using EVKEEZA. She shares:

“The plan that I’m on is working to my advantage. I can go to the doctor and leave with my cholesterol levels without being devastated. Right now, my levels are below 200. I no longer have to worry about nearing 1200, or even 500 to 600, where it was in the past without improvement.”

Angel Today

Angel is now 38, crafty, and thriving. She loves working on her Cricut machine, painting with her family, and finding new ways to express herself creatively. Over the past few years, her xanthomas have also started to shrink and are now barely noticeable. Between her treatments and her active work towards self-confidence, she is doing better than ever. She shares:

“Things are looking up quite well for me. I no longer feel self-conscious. I no longer feel defeated. I have hope and my levels look way better than they have before. This disease is a part of me and I had to learn to accept that. HoFH isn’t going anywhere. You have to own it.”

Becoming an Advocate

For a long time, Angel was on medication that wasn’t working for her. Her condition was not improving and she felt as though she was settling. But speaking up at the doctor can be overwhelming. Angel credits her mother for encouraging her to advocate for herself. She shares:

“We were at the doctor and my mom made me start speaking up. She did not open her mouth the whole appointment, so I had to speak up on my own behalf. I’m so grateful for that. I’ve realized that it is so important not just to stay connected with your healthcare provider, but to speak up. Your healthcare provider doesn’t know your body as well as you do. So advocate for yourself and make sure every concern you have is voiced.”

Learning more about HoFH can help others who are newly diagnosed advocate for themselves. Angel encourages people to search for resources and support, such as the Family Heart Foundation. This Foundation could help connect you with other people who are on a similar FH journey.

But most of all, Angel wants to remind people to take care of themselves and to recognize that their life is not over:

“To any person that has been diagnosed, remember that this is not the end. You can still enjoy life. Do what makes you happy. Keep pushing because the best is still to come.”