Cascade Screening for Familial Hypercholesterolemia

Familial hypercholesterolemia is an autosomal dominant disorder that affects the way that the blood handles cholesterol, resulting in abnormally high concentrations of LDL cholesterol in the blood. This can have serious consequences because it leads to coronary heart disease, heart attacks, and other heart problems at a premature age. It is caused by a single mutation in one of several genes, including the LDL receptor, apolipoprotein B, or proprotein convertase subtilisin/kexin type 9. The vast majority of people with FH are undiagnosed, leaving them at serious risk for major cardiovascular problems, since major lifestyle, diet, and medication changes are needed to reduce the risks. Cascade screening is a diagnostic method that can help identify individuals with FH early on, so they can get the therapy they need and live longer, healthier lives.

Inheriting Familial Hypercholesterolemia

Affecting one in every 300-500 people worldwide, it is one of the most common inherited genetic disorders. Because it is an autosomal dominant disorder, this means that an individual only needs to have one parent with FH to be at a 50% risk of having it themselves. If both parents pass an FH mutation down to their offspring, the resulting disorder is much more serious than the more common form of FH. Only one in one million people are estimated to have the most severe form of this genetic disorder, although more recent studies suggest that this number might actually be bigger. However, as rare as the more serious form of FH is, it’s important to consider that if one member of a family is diagnosed with FH, it is not a possibility but rather a certainty that other members of the family have the genetic disorder as well.

What is Cascade Screening

Since FH is an inherited disease, tracing it through family lines is one of the most effective ways to find the people who are at risk for a genetic condition in order to treat them properly. Cascade screening is the name for one such mechanism. When people receive a diagnosis of FH, they become what is known as an “index case.” Cascade screening then is the process of testing their immediate biological relatives to figure out which other members of the family also have the FH gene. First, second, and third degree biological relatives are all candidates for cascade screening.

Family Heart Foundation CASCADE FH Registry

the Family Heart Foundation is dedicated to providing educational information about FH in order to help those who don’t know that they have the disease identify it and seek potentially life-saving treatments. Our national FH registry is called CASCADE FH, in order to highlight the importance of cascade testing to relatives of anyone who has a diagnosis. If you have received a diagnosis of FH, we highly encourage you to join the registry and help us track disease patterns, therapy trends and patient quality of life to enable research in bettering FH diagnosis and care.

If you want to learn more about FH, browse the Family Heart Foundation website to learn everything you need to know about risk factors, diagnosis, treatment, and next steps for individuals who discover that they have FH. Even if you’ve never considered the possibility that you might have FH before, it’s worth learning everything you can to decide if you might be candidate for the disorder. After all, what you don’t know about FH can kill you.

7 Responses to “Cascade Screening for Familial Hypercholesterolemia”

  1. Sue Ann Reed

    I have familial hypercholesterolemia and have 2 family members test positive and trying to get others to get tested.

  2. Cat Davis Ahmed

    Hi Sue Ann,
    Thanks for your comment. It’s good that you are encouraging others in your family to be screened for FH – early diagnosis and treatment are so important! I hope that you and your family members will join our FH Registry to help us all understand more about the experiences FH patients have with diagnosis and treatment. The more we know, the better we can do.
    I hope you are finding the information you are looking for on our website. You can always reach us through the Contact Us link at the top of our home page, with questions or suggestions. We really appreciate hearing from you.
    Best wishes for you and your family,
    Cat Davis Ahmed
    Director of Outreach
    and FH Advocate

  3. Dawn

    Hi, I have a history of unexplained deaths of the males in my father’s family, heart related with my grandfather dying at a young age of a massive heart attack, when my father was only 6 yrs old. Because of this and of having boys, I had my children tested and my oldest was diagnosed with FH at the age of 3. We didn’t start medications, but we taught him an active lifestyle and low fat diet. Now that he is 18, he is more sedentary. I’m thinking it’s time for a change and “treatment”. My other two children did not test positive for FH. I have high cholesterol, but borderline high … and being a female … well, I wasn’t that concerned. Dawn

    • The FH Foundation

      Hi Dawn,
      Thank you for your message. We’re forwarding it to one of our medical officers and we’ll get back to you with their comments.
      The FHF team

  4. Angie

    I am a 53 yr. old otherwise healthy woman (healthy weight) moderately active and have FH, today my doctor said my total cholesterol was 267. The bad cholesterol was 170 the good 73 and triglycerides 121. I have been taking Pravastin 40 mg. he is switching me to Lipitor 20 mg. I don’t smoke, drink or have any other risky behaviors and the only other medical condition is bouts with kidney stones. Is this cholesterol level that high? I read just the other day they are reassessing cholesterol levels with a test for calcium levels. Have you heard of this test and if so is it a more accurate predictor of heart disease?

    • The FH Foundation

      Dear Angie,
      Thank you for the good questions! We’ve forwarded your message to one of our Scientific Advisory Board members and will get back to you via your personal email address. Sincerely, the FHF team

  5. Suellen

    My cholesterol has gone from 7.7 to 16.1 in a matter of 6 weeks I did have high cholesterol when my youngest baby was born it was 15 she was 6 weeks early and I was diagnosed with lupus shortly afterward, she is nearly 25 now I’ve been pretty good up until last year when I was diagnosed with breast cancer and had ray treatment my cholesterol which had been good 4.6 with the help of medication started to rise then I had abnormal liver function results and had to stop taking medication ( one of the statin group) . My gp has now given me a lower dose drug to start on again . I’m concerned and a bit frightened my father died at 64 of heart attack my mum is 81 and has had heart problems bypass surgery etc. I’m 51 and am just starting to feel good again after my treatment. Is stress a contributing factor.


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