Familial hypercholesterolemia

Portrait of Josh, patient with familial hypercholesterolemia

"When I was 17, I went in for a normal checkup and found out that I had high cholesterol. I was young and very active playing sports, so they said it was hereditary. I figured I'd just treat it with diet and exercise and I followed that regimen through college, always maintaining numbers around 300—high for someone my age, but I didn't want to treat it with drugs. I worried about side effects, plus I was young and felt indestructible.

After college I got married. My wife, who works in the medical field, wanted me to get more aggressive with my treatment, so we saw a local cardiologist who put me on statins. They worked, but I kept feeling that at my age, I'd rather get off the drugs and switch to natural therapy. Problem was, when I did that, my numbers shot up close to dangerously high levels of 500. My doctor said they couldn't do anything more for me and told me to go to a specialist in familial hypercholesterolemia. They recommended Penn Medicine.

I'm from Philly, so I already knew Penn Medicine was the best. Also, their heart and vascular program is ranked number 1 in the region, so I went. I saw Dr. Daniel Soffer of the Penn Medicine Preventive Cardiovascular program. Dr. Soffer was very nice and compassionate, but also very strict and stern at the same time. He told me that, with two small boys and another baby coming, I really had to take care of this or it could end my life at a young age. I still didn't believe it, because I felt fine, but Dr. Soffer didn't give up. He said he cared about me and wanted me to take full advantage of the best treatments available. I finally decided to get on board and started treatments that included statins, niacin and several other things. Through this, my cholesterol came down to 194, but Dr. Soffer still wanted better results for me. He told me I was eligible for a clinical trial and I enrolled to get my numbers down even further.

Throughout all this, the cardiologists at Penn's Preventive Cardiovascular Medicine program were the first to explain my cholesterol problem in ways I could understand, not just with numbers. They drew it all out clearly. Finally I understood how serious my condition was.

The trial I am on now is for the newest treatment. It processes cholesterol in addition to statins. I won't know the overall result for another year, but I am an eternal optimist.

As a dad and husband, I'm so thankful that Dr. Soffer didn't let up on me or let me accept anything less than the most advanced treatment for my care. It's great that I'm in an area with excellent doctors and good support and I'm doing everything I can. I'm doing the right things, under the right guidance, finally!"

Need an appointment? Request one online 24 hours/day, 7 days/week or call 800-789-7366 (PENN) to speak to a referral counselor.

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