Familial Hypercholesterolemia Is Often Misdiagnosed By Physicians Unaware Of Family Medical Histories

familial-hypercholesterolemia-symptomsBecause familial hypercholesterolemia can be passed on to children if either or both parents have the same disorder, it should be easy to identify this dangerous genetic disease in patients with high cholesterol or heart problems. If both parents have FH there is a 75% likelihood that each of their children will have FH to varying degrees.  If a child inherits the FH gene from both parents (which happens 25% of the time) they will have a very severe form of FH called “homozygous FH”.  If a child inherits the FH gene from only one parent  (which happens 50% of the time) they will have a less severe form of FH. Unfortunately, even though the gene on chromosome 19 that causes familial hypercholesterolemia has been identified, many patients never receive genetic testing, and the disorder continues to be misdiagnosed. Misdiagnosis may account for up to 80% of cases where an individual with familial hypercholesterolemia doesn’t know he or she has FH until he or she has a serious cardiac event. If the research clearly shows that it is hereditary, why is familial hypercholesterolemia missed by so many doctors?

Cholesterol Tests Aren’t Considered Routine

Because high cholesterol is relatively rare in younger adults and children, many doctors don’t order cholesterol tests that screen for fatty deposits in the blood or high cholesterol levels. Most of the time, cholesterol tests are only ordered after young patients have displayed serious physical symptoms such as a cardiac incident, heart attack or stroke. It’s unfortunate that in many cases FH has already advanced to the danger point before cholesterol tests or genetic testing are done. Cholesterol tests aren’t usually necessary unless there are other indications of disease, but in many cases doctors aren’t familiar with the more benign, early stages of the disease.  

Familial Hypercholesterolemia Isn’t Suspected By Families With A History Of Heart Disease

Even in families where there is a history of coronary artery disease, early heart attacks or strokes, the possibility of familial hypercholesterolemia is often overlooked. Many families have simply never heard of it and assume that those heart problems started when the victims were adults. They don’t realize thaFamily Heart Foundationt even young children in their family could have dangerously elevated cholesterol levels and assume that there is no reason to start taking precautions until they are in their 30s or older. If you hear someone say that they know they are doomed to have an early heart attack because one or both of their parents did, urge them to talk to their doctor about genetic testing as well as a cholesterol test now rather than later. If caught during childhood, there are a variety of treatment options that can help minimize their risk.  

Bringing Familial Hypercholesterolemia To The World’s Attention

Each year, more individuals are diagnosed as young adults or children because the Family Heart Foundation and others have maintained a campaign to improve awareness of this disease. Doctors now have the tools to ask the right questions and are more inclined to take complete family medical histories. Physicians are also more educated about early symptoms. If caught early enough, patients with familial hypercholesterolemia can begin treatment when they are as young as two years of age.  

Be Proactive

If you know the early warning signs of familial hypercholesterolemia and watch for them, you may be able to prevent heart disease complications in the future. Ask your doctor about cholesterol testing and genetic testing if you have any of the following warning signs:
  • Heart disease and/or early heart attacks in your parents or grandparents
  • Yellowish-white fatty deposits beneath the skin, especially near your eyes. These are a build-up of cholesterol
  • Puffy or swollen heel tendons or tendons on the back of the hands
  • A distinct ring of white around the pupil or iris
  • High cholesterol despite a healthy weight, healthy eating habits and taking a cholesterol lowering medication

  If you or a family member has one or more of the symptoms above, contact your family doctor to discuss your concerns about familial hypercholesterolemia.

You can also learn more about FH by registering to become a member of the Family Heart Foundation.

4 Responses to “Familial Hypercholesterolemia Is Often Misdiagnosed By Physicians Unaware Of Family Medical Histories”

  1. Loretta Driskell

    My mother died in 1966 at age of 51 (of heart attack). She was told (after her first attack a year earlier) that she had a condition where her body was producing too much cholesterol, and that it was inherited. I dont think a prescription was part of her treatment. I assumed there were no drugs for this back then, however, I think she just loweed the fat in diet (am vague on details after all these years). A few years later, I decided to be checked to see if I had inherited this condition and that resulted in a prescription of some sort of powder to be mixed with water and drank. YUCK! Lol. Later switched to statin drugs (Crestor, Mevacor, Lipitor, possibly others. Now, after suffering muscle problems/leg cramps for years and being diagnosed with type 2 diabetes (not in my family), and now the cramping is so severe I can no longer tolerate the frequency or severity of yhe pain worsening, I have taken myself off statins, and of course, cholesterol spiked. Dr. Put me back on, with lower dose and few days to take. After 3rd pill, severe and very frequent pain and cramping returned. I am looking for a non- statin remedy. Thus, my comments here are in hopes of some recommendations to discuss with my doctor. Thanks for your articles online.

    • Stephanie Delgado

      Ms. Loretta;
      I have been treated for hypercholesterolemia since I was 32 years old. I experienced many of the problems taking statin drugs (leg cramping, abdominal cramping) and a general problem all around. A natropathic doctor did some tests and found that I was APOE Genotype 3-4 which explains why the intolerance. Here is what I do, I take “Lovaza” a prescription strength Omega 3, (2 grams, twice daily) and I also take 1500 mg (prescription strength) of niacin (extended release Niaspan) in the evening. It works, as the cholesterol and triglycerites are now normal (151 Cholesterol and 185 for triglycerites) down from 180 and 1500. I struggled with diet and exercise, and just could not bring the numbers down. For years I was counseled about bad eating habits, so I came to the point where I would tell my doctor that I ate a cheeseburger and smoked a cigar immediate before having a blood draw (as a joke). Good luck to you, and take this information to your doctor, it may help.

  2. Peter Brett

    I am a male 66 years old and asymptomatic for CVD including no angina on exercising (yet!). Here in Melbourne Australia in the mid-1960s at our Royal Children's Hospital a team of researchers was working on the role of serum Cholesterol in heart disease. I was 19 years old at the time (1968) and lucky enough to have been found with a Cholesterol level of 400 mg/dl. That was because they had recognised my family's history of heart disease. In four generations across several branches of the family I am the first affected male to live past age 47 and the first to know grand children. Having started on the statins here in 1987 when they were just a number in trials I am now fortunate enough to be able to "play" with different medications and diet supplements to see their effects on HDL, LDL and the sub-fractions of both. Most people here, including our general practitioners have not heard of sub-fractions. We may not know (here) what to with known sub-fraction values but it gathers data for my descendants and their general practitioners, even if in years to come they have to drag them to Dr Google. I am sure they will be seen in the future as emphasising the need for some people to take more aggressive action in limiting risk factors. Thanks to Drs Brown and Goldstein and all who came before and after I have had a life! And, with apologies for what I guess is political incorrectness, thanks to the Pharmaceutical companies, without them I know precisely where I would be now: the wrong side of the grass.Peter Brett, Electrical Engineer (retired). Vitals: untreated TSC 440 mg/dl, Trigs <150 mg/dl. Now: TSC 272 LDL 128 HDL 136 (NOT a typo) thanks to a statin, niacin (the real one and only) and a healthy red wine.

  3. Peter Brett

    Hello moderator if you could make a correction: ” Most people here, including our general practitioners have heard of sub-fractions. ” should read “….have not heard of sub-fractions….
    with apologies


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