Familial hyperlipidemia

Karin headshot

A family history impacts the present.

In the early 1980s, Karen Damiani switched her primary care doctor to Penn Medicine, and it was a decision that changed her life.

"I had a significant family history in terms of cardiac events. My great-grandmother died at 51 of a heart attack and all of her siblings passed away because of either heart disease or stroke."

Her doctor looked at that history and recommended taking a closer look at Karin's cholesterol levels. Sure enough, she had familial hyperlipidemia – a congenital condition resulting in high levels of "bad" cholesterol.

"I was a vegan then, and I've been a vegetarian since 1980, so I knew it wasn't because of my diet."

Treating familial hyperlipidemia.

Karin began taking medication to lower her cholesterol and triglyceride levels. Then, her physician recommended an ultrafast CT scan of her coronary arteries, which revealed a calcification level with a severity that put Karin in the 90th percentile of people in her age group who had never had a cardiac event. She was referred to one of Penn's leading researchers at the time, Dr. Daniel Rader, and then began seeing Dr. Daniel Soffer.

Dr. Soffer took a fractionated approach to Karin's condition, carefully assessing her HDL, triglycerides and more and tailoring different drug dosages to keep her levels low. This enabled a personalized approach to treatment that helped maximize her health and minimize the common side effects of taking multiple medications. Combination therapy also helped her find alternatives to drugs that didn't agree with her, such as statins.

A new lifestyle – for her family, too.

What followed was a complete lifestyle change. The team at Penn worked with Karin to help her develop an exercise plan to keep her healthy. It was a plan that would also have an impact on other members of her family.

"I took the information from my doctors and I shared it with my mother and my brother. I told them it's not just about our food and our family history; it's about finding ongoing treatment."

Together, they began to fight their family history. In addition to her combined medication therapy, Karin kept up with her vegetarian diet – "The only thing I eat with eyes is a potato" – and began exercising more. In the summer, you'll find her in her garden. And in the winter, she keeps active by hiking in Ridley Creek State Park and Tyler Arboretum.

As for her mother and brother, they took Karin's advice and began taking medication, too. Her mother, now in her 80s, stays active by volunteering at local hospitals.

A healthier future.

Now, Karin comes back to Penn Medicine every three months. She undergoes a complete metabolic panel, and Dr. Soffer adjusts her combined medications accordingly. A stress test and echocardiogram are part of her regular visits, too.

"For generations, my family suffered from cardiac disease and stroke. Now, thanks to Penn Medicine, I've broken that pattern. And even better, I've helped my mother and my brother break that pattern, too."

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