The Importance Of Cascade Screening For Familial Hypercholesterolemia

If you or someone you love has recently been diagnosed with any form of familial hypercholesterolemia, you probably have a multitude of questions about how to treat it, whether it is hereditary and what you need to do to protect the rest of your family's health and well-being. FH is an inherited medical condition that passes from parent to child, and one of the most important things you can do if you or a family member has been diagnosed with FH is to arrange for cascade testing for your immediate family.
What Is Cascade Testing?
Cascade screening for familial hypercholesterolemia is actually a combination of two distinct tests. One is a traditional lipids panel that tests for concentration levels of LDL-C cholesterol, commonly referred to as "bad" cholesterol. The second test is a DNA test the looks for the specific gene mutation that caused FH in the initial patient. If the patient hasn't yet been genetically tested to find the specific mutation, it's a good idea to have this done. In the meantime, the LDL-C levels are a good indicator of whether others in the family have FH.
Who Should Be Tested For Familial Hypercholesterolemia?
It is recommended that anyone who is a first degree relative of an individual with the disorder be tested. In most cases, this can and should be done for anyone over the age of two, as high cholesterol levels can show up even in children and toddlers. The National Lipids Association recommends that once cascade testing has revealed which relatives have the disorder, the first degree relatives of these persons should then be tested. In this way, multiple generations as well as siblings with familial hypercholesterolemia can be notified. The term "cascade screening" refers to this domino effect that can lead to multiple diagnoses within family units.
It is particularly important to undergo screening if you suspect FH in particular ethnic groups, where the incidence of the disease is much higher than in the normal population. Among those affected are certain South Afrikaner populations, Ashkenazi Jews and French Canadians. This prevalence in particular groups is due to the Founders Effect, which is triggered when specific, small populations of people tend to avoid normal genetic variations by becoming a sustaining genetic group within a larger and more diverse population. Within these groups, FH is much more common and proper diagnosis and treatment is critical.
Why Is Screening For FH So Important?
Genetic testing and cascade screening can lead to early diagnosis and treatment of an illness that eventually leads to coronary artery disease, heart disease, heart attack and stroke at a young age. Early detection and treatment is especially critical for children and patients who have homozygous familial hypercholesterolemia, a particularly severe and potentially debilitating form of the disorder. Because fewer than 25% of those who have FH are properly diagnosed, proper screening continues to be the best way to discover it. By reducing misdiagnosis and implementing treatment, it is hoped that the consequences of the illness can be minimized and new information can be gleaned through genetic research and counseling.
If you or a relative is being treated for familial hypercholesterolemia, ask your doctor about cascade screening for the entire family.
Cascade testing is recommended by The FH Foundation for anyone diagnosed with familial hypercholesterolemia. To learn more about testing, treatment and support for families with familial hypercholesterolemia, visit The FH Foundation's website.