Examples of cholesterol deposits in the
elbows and hands; from Gidding et
al. Circulation. 2015; 132:2167–2192.
Reprinted with permission. ©American
Heart Association, Inc.
See the story of FH survivor Brenda Gundell, courtesy of Stanford Healthcare.
FH is often diagnosed based on a combination of
laboratory results, physical exam findings and personal and
family history. “Nowadays, there’s also the possibility of doing
molecular diagnosis, genetic diagnosis or genetic testing,”
Knowles said. That has been routine for many years in Europe
but not in the United States. But it is getting to be cheaper
and easier and will probably play a larger role going forward.
“If you do a genetic test and don’t find a mutation, it doesn’t
[necessarily] mean that the person doesn’t have FH. It just
means we [may not have] found the mutation. But if you
do find the mutation, it can be very useful, not only for that individual, but also for
screening relatives for that mutation in what is called ‘predictive testing,’” he said.
In addition, there are a few physical symptoms that people with FH can have,
though many do not have these physical signs. They can develop cholesterol
deposits in their tendons. “This can be in the Achilles tendons or the tendons
of the hands or the elbows,” Knowles said. They can also develop cholesterol
deposits in other places that are not normal like around the eyes. Both of these are
quite noticeable, and before the age of molecular biology, FH was considered a
Dr. Joshua Knowles