If you or one of your patients have been diagnosed with FH there may be some questions. Let’s see if I can answer some of them for you:
Why does it run in families?
FH is a dominant inherited disorder meaning that is passed on from parent to child. Once we have identified the first person with FH (Index Case) then we need to find the rest of the family members and test them – this process is called Cascade Screening.
What are the chances that my family members also have FH?
In Australia FH has a prevalence of 1:200 - 1:300 and if we screen from an Index Case through the family members then it is possible to identify another 4 family members with FH for every Index Case we find.
Why do I need to let my family know?
Many people look fit and healthy but unfortunately that does not describe their heart health – FH is a silent killer and is asymptomatic and present from birth. Some family members may think a diagnosis of FH is your problem not theirs and this thinking can be very wrong and end badly!
What if they don’t care?
Not all family members are open to having even a simple blood test done, especially if they are healthy and fit (head in the sand attitude). It is important to underpin the invitation to be screened with the consequences of what could happen if they are not screened. The screening process is really simple; however, it is about the way it is presented to the person identified with FH so they can disseminate this knowledge to their family members. There is a video on the website that explains FH in simple terms.
Do I need to have Genetic testing?
In my practice I do not use DNA testing unless my patient (and their family members) fall into the high-risk category hence I have a higher number of people who want to be screened as there is less fear of repercussion when seeking life insurance.
I hope that this answers some of your questions, however if you have more, please do not hesitate to contact me through the web site.