Heart disease may run in the family, but family screening involves more than genetics.
Maybe you always knew that heart disease ran in your family. If you or a loved one has been diagnosed with familial hypercholesterolemia (FH), perhaps you now understand why. If early heart disease or stroke along with elevated cholesterol run in your family, it is important to speak to your health care provider about the possibility of FH. This is a genetic condition that, without treatment, can lead to early heart disease. Typically, one of three specific genes is mutated (low-density lipoprotein receptor [LDLR], apolipoprotein B-100 [APOB], and/or proprotein convertase subtilisin-like kexin type 9 [PCSK9]) which causes a life-long elevation in the LDL-C or “bad cholesterol”. This elevation slowly but persistently leads to build-up of plaque in artery walls. About 1 in every 250 people have this type of genetic mutation, or about 1.3 million people in the US. Familial hypercholesterolemia can be diagnosed by a cholesterol test, physical exam and family/medical history or by genetic testing. Fortunately, there are inexpensive LDL-C lowering medications and healthy habits to effectively treat FH, especially if they are started earlier in life. Unfortunately, 9 out of 10 people living with FH in the US haven’t been diagnosed so may not be treated at all.
This leads to the topic of family screening (or cascade screening as it is sometimes called) and how it is that FH runs in families. If someone has FH, it is likely that other family members have it, as well. A gambler could make a well-calculated bet on this, because FH genes are autosomal dominant. Every child and sibling of someone with FH has a 50% chance of inheriting the same FH gene. Aunts, uncles and cousins may have also inherited the genes if passed along that line of the family tree.
Unfortunately, family screening for FH does not often occur in the US, although it is encouraged by the CDC and other major health institutions. Screening programs in some other countries have been very successful. In 1994, an extensive family screening program for FH was started in the Netherlands and is estimated to have identified about 70% of Dutch FH patients. For each initial FH patient (sometimes called the index case or proband) this program found about 8 relatives who also had FH.
“I was fortunate that shortly after my CABG at the age of 39 with no family history of heart disease my lipid doctor had my three young children as well as my siblings tested. Both of my sons and several siblings were found to have FH and were immediately put on meds.”
– Woman with FH, age 59, with 2 adult sons with FH
Support for family screening is available through our Tools and Resources. There you will find resources and information about FH including a toolkit focused on sharing information and communicating with family members. Feedback from FH patients suggests that it is best to provide many tools to suit all sorts of different family situations. For example, paper information pamphlets may work best for older relatives, while tech savvy relatives may prefer to interact with a chatbot, which is currently being tested through a National Institutes of Health (NIH) grant that the FH Foundation is working on with Geisinger Health System. Support for family screening can also be provided by your health care team, which may include a genetic counselor. Health care providers can educate people with FH about the disease and family screening and work with them on a plan. There may be questions about cost of testing, insurance coverage, and concerns about privacy and discrimination. If you find that your own healthcare provider is not well versed or knowledgeable about FH, it may be helpful to bring information from the FH Foundation website with you to your next appointment. Recently, the FH Foundation and University of Texas Southwestern received a 4-year grant to collaborate on a research project aimed at carefully investigating the obstacles to family screening within the health care system as well as those that may be unique to patients and families. An updated family screening program will be tested and refined. The final program could serve as a model for other US health systems.
Family screening, as with other family matters, may also involve issues that are more personal but not uncommon. Patients with FH may experience a range of emotions, including guilt or fear of blame for passing on FH genes. Relatives could be estranged, and family relationships may be complex. There may be concerns about how family members will cope or react. Unlike some other genetic conditions, effective and affordable treatments are available for FH. Parents can set a good example for their children by taking their LDL-C lowering medications and openly discussing FH.
Family screening is a powerful tool for identifying people with FH, allowing them to initiate effective treatments early in life. The FH Foundation is leading efforts to increase family screening in the US and provide better support to people who are sharing their FH diagnosis with family members. For those who wonder why heart disease runs in their family, family screening could answer the question and change their story.