PCSK9 inhibitors are newly developed injectable
antibodies that lower cholesterol levels. They target the
PCSK9 protein and block it so that more of the receptors
on the liver are available to get rid of LDL cholesterol
from the blood.
Bill’s experience matches this outline of treatment
options. Although he was diagnosed with FH seven years
ago, he started on statin therapy in 1985, but over time he
became intolerant to them, developing side effects that
prevented him from being able to take the medication.
“The only alternative at the time was LDL apheresis at
our local hospital,” he said. “It was very time consuming
— four hours per session — and a substantial nuisance,
interrupting the work day, and a bit painful as well. Now I
Knowles is emphatic that FH cannot be treated by diet
and exercise alone. Diet and exercise will lower your LDL
some, “but when you’re talking about needing to lower
cholesterol levels by 50 percent or 75 percent, diet and
exercise is not enough,” Knowles said.
“We say we never find an individual with FH; we only
find families with FH,” Knowles said. “If you identify
FH in a family you’re obligated to look at the rest of the
family because people are ticking time bombs if they
haven’t been identified.
“It’s very cost-effective if you can identify it early
enough and treat it,” Knowles said. “So if you find one
individual in a family with FH, you really need to check
all first degree relatives — parents, siblings, children and
then cascade from there — to see if they also have it.”
Bill has told his three daughters about their
propensity for FH, and so far none of them or any of his
grandchildren have been diagnosed with FH.
According to Knowles, if the patient is identified early
enough and treated aggressively enough, the prognosis is
“They generally do quite well. Their quality of life is
pretty good. Some of them do worry about their hearts.
They worry about their relatives,” Knowles said.
That was Bill Linsman’s experience: “My wife
used to worry about me terribly, and I knew that I was
weary of the apheresis — not to mention the scar tissue
getting larger in my arms every visit,” he said. “The self-
administered PCSK9 inhibitor injections, once every two
weeks, are so much easier. The injections provide a terrific
freedom that makes us both much more comfortable with
how my FH is managed.”
Two PCSK9 inhibitors are approved by the FDA, but
it’s important to note that they are still a new treatment,
their use is limited and they are costly.
“I knew I had high
cholesterol, but I did not
know I had a genetic disorder
that put me at higher risk of
Survivor Bill Linsman