As children, identical twins Elaine DeCouto and Carol McCarthy played sports including softball, basketball and cheerleading. Fast forward to their adult lives – and although they have long since traded their pompoms, mitts and basketballs for gardening gloves and watering cans – their commonalities have only strengthened over the years. Now 66 years old, DeCouto and McCarthy are enjoying retirement, and remain active by helping each other with yard and home improvement projects – all while attempting to manage a serious health condition, familial hypercholesterolemia (FH), which they have struggled to control for the past two decades.
DOUBLE TROUBLE: Identical twins McCarthy, above, and DeCouto receive apheresis treatments at the MGH every two weeks to help manage their genetic FH condition.
FH is an inherited disorder marked by elevated levels of low-density lipoprotein or LDL – often called the “bad cholesterol.” The Centers for Disease Control and Prevention reports that about one in 500 people in the U.S., or roughly 630,000 people, have FH. If left untreated, an FH patient’s LDL cholesterol – which can be as high as 250 to 400 mg/dL in heterozygous patients like the twins (have one abnormal copy of the defective gene) and up to 500 to 1,000 mg/dL in homozygous patients (two copies of the defective gene) – can lead to serious and deadly conditions such as heart attack and stroke. When DeCouto and McCarthy first came to the MGH, their untreated baseline LDL numbers were between 350 and 400, far exceeding the normal number of 130.
“Elaine and Carol both inherited a gene for this very high cholesterol,” says Linda Hemphill, MD, director of the MGH Corrigan Minehan Heart Center LDL Apheresis Program, who first began treating the twins in May 2011. “The reason the twins struggled with control of their levels is because they are both intolerant of statin medications, currently the only medications on the market which can significantly lower cholesterol. I knew the twins had to get their LDL levels down and taking statins simply wasn’t a possibility after years of attempts. They needed another treatment option and that’s when I introduced them to apheresis treatments.”
Since 2004, the Heart Center has been the only site in Massachusetts to offer adults the treatment, which is a dialysis-like procedure that clears the LDL cholesterol from the blood. For their care, the twins now come to the hospital every two weeks to undergo the two- to four-hour procedure. Their post-treatment LDL cholesterol numbers are now consistently around 110 to 130.
“The apheresis treatment is very simple, and I’ve been thrilled with the comparison of my numbers now to what they were,” says McCarthy, who sought the new treatment after having a stroke years ago.
DeCouto says after being treated with statin medications for more than 20 years – and enduring their painful side effects, including muscle aches that sometimes affected her mobility – she was ready to try something different. She turned to the treatment that was working for her sister. “I was initially skeptical the treatments would work, but I figured if it worked for Carol, it would work for me,” she says. “When I learned after the first treatment that my LDL numbers had decreased, I could have jumped for joy.”
Hemphill says, while effective, apheresis has certain eligibility requirements, since most FH patients can tolerate statin medications. FH remains a disorder largely undertreated. “Some estimates indicate only 20 percent of FH cases are diagnosed and only about 10 percent of patients receive appropriate therapy,” she says. “When you hear of a 30-year-old man who died of a heart attack, it is likely he had FH, but had never gotten his cholesterol checked.
Read more articles from the 02/08/13 Hotline issue.