Hyper cholesterol, reluctant system

When Dan LoDolce began experiencing chest pain in his late 20s, he brushed it off as heartburn. He was prescribed antacids and assured it was nothing to be concerned about—despite his LDL “bad” cholesterol level being at 420 milligrams per deciliter of blood, or what’s known as mg/dl. Less than 100 mg/dl is considered healthy by the Centers for Disease Control and Prevention.

Several years later, the 32-year-old Sacramento resident still had not found relief from his chest pain, nor had he seen any drop in his cholesterol despite becoming vegan for a year. He returned to his doctor and insisted on a stress test to rule out any problems with his heart.

Four days later, he had a quadruple bypass. Four major arteries in LoDolce’s heart were 80 to 99 percent obstructed.

For most people, high cholesterol is caused by a diet too high in fatty foods. But for LoDolce and the other 5,400 people the FH Foundation estimates live with familial hypercholesterolemia, or FH, in the Sacramento area, high cholesterol is genetic. FH is a common but nonetheless little-known genetic condition that leads to a rapid accumulation of LDL cholesterol starting at birth.

Patients are up against a family history of early heart disease, misdiagnosis and insurance refusing to cover medications. According to the FH Foundation, untreated individuals with FH have a 20 times higher risk of developing heart disease. Add the fact that more than 90 percent of people with FH are unaware of the condition and you end up with people who suffer severe or even fatal heart attacks early in life.

Following his surgery, LoDolce was started on statins, which brought his cholesterol down to the 160 mg/dl range. His doctor also decided he needed to immediately start on PCSK9 inhibitors, a medication developed to treat extremely high cholesterol such as the levels seen in FH patients.

LoDolce’s insurance denied his claim.

“It seemed strange because that’s what it’s for,” LoDolce said, recalling the nearly four-month struggle that ensued as he fought for approval of the PCSK9 inhibitor. “I just had heart surgery at 32. If anyone is going to be on long-term cholesterol-lowering meds, that would be me.”

Once again LoDolce found that he had to be his own advocate for his health. He came across the FH Foundation and, with their backing, his insurance company finally approved his treatment. When the PCSK9 inhibitor was added to his treatment regimen, his LDL cholesterol dropped to a healthy 15 mg/dl.

After PSCK9 inhibitors were approved for FH patients in 2015, the FH Foundation found that insurance companies rejected these drugs in 62 percent of cases overall and 63.3 percent of cases for suspected FH patients.

“The system seems to reject people regardless of who they are and rewards persistence,” said Cat Davis Ahmed, the vice president of policy and outreach at the FH Foundation. “We’re not advocating for unfettered access to everything, but we do want those people who have had cardiac events or someone like Dan … to get treatment. There are people who cannot wait to get it right.”

Approximately one in every 250 people worldwide has FH, which makes it nearly as common as rheumatoid arthritis or Type 1 diabetes, according to Davis Ahmed. Yet, the California Department of Public Health acknowledges it doesn’t even keep records of “incidence or prevalence data on individuals diagnosed with familial hypercholesterolemia.”

Because FH is genetic, it can often be traced through previous generations. There is a 50 percent chance each child born to a parent with FH will inherit the condition.

The FH Foundation is working to increase testing cholesterol at a younger age to detect FH earlier in life and has also started a nationwide database of FH diagnoses to predict who should be tested and follow FH diagnoses through related family members.