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Deadly condition more common than once thought

Familial hypercholesterolemia raises risk of heart disease, death

MIAMI – In June 2018, April Donelson was set to marry the man of her dreams, Ryan Carrigan.

All that changed one Friday night when he went into cardiac arrest at their home.

"It was like being in a nightmare. I thought I was in a bad dream. There are no words," Donelson said.

Carrigan never knew he had familial hypercholesterolemia, or FH, which is a life-threatening genetic condition.

"FH raises your risk of having heart disease about 20 times if untreated," said Amanda McNulty Sheldon, with the FH Foundation. "What's amazing is when managed, you can actually reduce that risk dramatically."

Cardiologist Dr. Adam Splaver said a combination of LDL over 190 and a family history of heart events are red flags for FH.

"Familial hypercholesterolemia is actually a genetic problem where the gene for clearing out LDL cholesterol is actually mutated, it's broken, so what happens is LDL cholesterol, the bad cholesterol, builds up in the bloodstream and then causes plaque or atherosclerosis to form," Splaver said.

Diet and exercise aren't enough to address FH. Splaver said effective treatment requires prescription medication.

"Recently, they've come up with an antibody that can infuse with a needle and it lowers LDL cholesterol dramatically in this condition," he said.

Sheldon said FH is far more common than once realized, affecting an estimated one in 250 people, but only 10 percent are formally diagnosed.

"One out of every five heart attacks in people under the age of 45 is related to FH," she said.

That is why Donelson is on a mission to raise awareness about the condition and hopefully save lives.

"It's absolutely senseless. This doesn't have to happen to any person or any family," she said.

September 24 is designated FH Awareness Day in the United States and around the globe.

The FH Foundation hosted a reception and panel discussion earlier this week at the St. Regis Bal Harbour Resort in memory of Carrigan.


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