Genetic testing helped one woman and her family find answers

[5 min read]

In this article: 

• Susan Patcha had been living with high cholesterol since she was 17.

• When her kids were almost 18 and switching to an adult cardiologist to treat their high cholesterol levels, Patcha decided it was time to investigate whether there was a genetic cause.

• Patcha, her kids and her mother all tested positive for an inherited genetic condition known as familial hypercholesterolemia, or FH, giving them all tools for prevention and a path forward.

Genetic testing helped one woman and her family find answers

Susan Patcha spent most of her career working as a NICU nurse. Yet even though she’d been in health care for more than 20 years, she wasn’t aware of the importance of learning whether her high cholesterol was genetic, or know there was more she could do to manage it.

“I’m a registered nurse, but I’ve primarily worked with babies, so genetics isn’t my forte,” says Patcha, who lives in Rancho Santa Margarita, California, with her husband and two kids — twins Noah and Sydney.

Patcha was diagnosed with high cholesterol when she was 17. A primary care doctor oversaw her treatment for the condition, which, at the time, was mainly a prescription for a statin, a drug designed to lower the amount of cholesterol made by the liver and to remove cholesterol already in the blood. 

When Noah and Sydney turned 4, Patcha decided to ask their pediatrician if they should be tested for high cholesterol because of her history. The pediatrician said yes, and a blood test showed both kids had elevated levels. The doctor referred Noah and Sydney to a pediatric cardiologist, whom they began to see on a regular basis to monitor their cholesterol.

Roughly 13 years later, in the fall of 2022, Noah and Sydney’s cardiologist let the family know she was retiring and told them she was putting in a referral for an adult cardiologist because they were almost 18. Noah and Sydney’s new cardiologist told Patcha it would be helpful to know if her children’s high cholesterol was genetic. “She told me, ‘If a gene mutation is causing this, it would likely change your treatment, interventions and management,’” Patcha recalls. “She said, ‘They’ll likely screen the kids, too. I want that for all of you, if necessary.’”

Closing the loop

That’s when Patcha found the Lipid Clinic within the Providence Mission Heritage Medical Group in Mission Viejo, California. The multidisciplinary clinic — founded by cardiologist Michael Miyamoto, M.D., and co-director Arthur Loussararian, M.D., with additional team members including registered dietitian Christi Coy, and pharmacy and genetic counselor support — offers a personalized approach to caring for inherited and difficult to manage cholesterol conditions.

The team works in collaboration with patients’ other health care providers, including primary care doctors, endocrinologists and cardiologists, to supplement care, and provides expertise and counseling around genetic test results, as well as recommended follow-up treatment.

At her clinic appointment with Dr. Miyamoto, Patcha learned she was a candidate for genetic testing.

“It was very easy,” she says. “Getting an appointment was easy. Working with the team was easy. Even the testing was easy. They just swabbed the inside of my cheek with a large Q-tip.”

A few weeks later, Patcha received a call from Carol Ko, MS, a licensed, certified genetic counselor who specializes in inherited cardiovascular disease and cancer genetics. Ko explained to Patcha that her test results showed she’d inherited a single, harmful gene variant or gene mutation from one of her parents that was causing her high cholesterol levels.

“Susan had known about her high cholesterol for a long time and had been on different lipid treatments,” Ko says, “but no one had ever really brought up this idea of a genetic condition to her.”

The official diagnosis was familial hypercholesterolemia, or FH, an inherited disorder that causes LDL (aka bad) cholesterol levels to be elevated at birth and to continue to rise over time. High levels of LDL are linked to a significantly increased risk of heart disease.

About one in 200 adults in the United States have a gene mutation causing FH or an FH-causing gene mutation, Ko says. But only about 10% are aware they have it and less than 2% have genetic testing to confirm it. Yet if FH isn’t treated, it causes people’s risk for developing heart disease to increase 20 times.

Although lifestyle behaviors like eating a nutritious diet and getting enough exercise can help, people with FH need to take medication to reduce their LDL cholesterol levels because they’re so high.

“The diagnosis became a really important factor for Susan and her family, and really helped them close the loop on this lipid condition that they’d always kind of known about but didn’t completely understand the cause of,” Ko says.

A path forward

After learning she had FH and that the gene mutation had come from one of her parents, Patcha advised her mom and dad to get tested. Her dad was negative for the mutation, but her mom was positive.

The good news, Patcha says, is that because they were diagnosed with FH, she and her mom were both eligible for a class of injectable medications called PCSK9 inhibitors. The drugs help lower cholesterol levels by targeting and blocking the PCSK9 protein, which, in turn, frees up liver cell receptors to remove more LDL cholesterol from the blood.

“The drug is very powerful and has reduced our cholesterol levels significantly,” she says, “which means our chances of having a heart attack are reduced significantly.”

Next, Patcha’s kids, now 18, underwent genetic testing. They both tested positive for the FH mutation.

“Although it’s unfortunate they have FH, too, the hope is that they will not develop the high levels of cholesterol that I did when I was their age because we’re now armed with this information and have this team behind us helping to take care of us,” she says.

Patcha adds that Ko is now helping her brother, who lives in Colorado, find a genetic counselor and has also given Patcha educational handouts to send to her mom’s relatives who live on the other side of the country.

“Carol has been amazing at taking care of me, my nuclear family and my extended family,” Patcha says.

Today, Patcha works as a case manager and nursing instructor, teaching at several area colleges.

“Knowledge is power,” Patcha says. “I would encourage anyone who either knows they have a family member or blood relative with high cholesterol or has it themselves to ask their doctor for a genetic lipid screening. It can save your life.”

Meeting a need

The Lipid Clinic helps Providence fill a gap in our local community, Ko says. “We had patients who weren’t responding very well to their lipid medications, like Susan, or who had more complexity than some of our primary care doctors felt comfortable managing,” she adds.

Through the clinic, Ko hopes more people will become aware of how common inherited heart conditions are and how genetic testing can help open the door to preventive treatment options. Especially because cholesterol conditions like FH are progressive, meaning they’ll worsen with time. That’s why identifying them and taking steps to prevent heart disease from developing in the first place is so important.

Plus, most insurance plans cover genetic testing if you meet certain criteria.

“Genetic testing is accessible and isn’t as expensive, scary or complicated as it may have been 10 or 15 years ago,” Ko says. “And it can have a big impact, not just for the person, but for their family members, as well.”

She adds that it’s an exciting time for the field of cardiovascular genetics: “We’re moving away from just being able to identify something to being able to take that information and do something with it to better treat our patients.”

Contributing Caregiver

Carol Ko, MS, CGC, serves patients at the Lipid Clinic at Mission Heritage Medical Group in Mission Viejo, California, and at the Providence Clinical Genetics and Genomics Program with multiple locations in Orange County, including the Leonard Cancer Institute at Mission Hospital.

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To learn more about the Lipid Clinic, call 949-364-3388.

You can also learn more about our genetics and genomics services, or find a location for care near you. In addition, you can search our provider directory for doctors who specialize in genetics and genomics. 

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This information is not intended as a substitute for professional medical care. Always follow your health care professional’s instructions.