About_FH_10.14

1. My brother/sister has FH, but my cholesterol levels are normal. Could my children have it?

FH is an autosomal dominant disorder with essentially complete penetrance. What this means is that if you have inherited the FH gene, you WILL have high LDL-cholesterol (and will require therapy to lower your LDL-cholesterol). In addition, each of your children will have a 50% chance of having FH.   If someone else in your family has FH (like a brother or a sister) and has high LDL cholesterol but you have totally normal LDL-cholesterol, then you will not pass on the FH gene to your children. However, if someone in your family has FH and your cholesterol is “borderline” or mildly elevated (ask your physician what LDL-cholesterol levels would be considered borderline or elevated in your case), there is a chance that you have FH and could pass it along to your children. In this case a consultation with a lipid specialist should be considered. Generally, if an adult’s LDL-cholesterol is less than 160 mg/dL without taking cholesterol-lowering medication, there is a very low chance that they have FH. If an adult has an LDL cholesterol level > 190mg/dL there is a stronger suspicion for FH.


2. When do symptoms appear?

 Depending on the severity or form of FH you have (Heterozygous vs. Homozygous), symptoms can start appearing in childhood or they might not appear until much later in life. Because FH is caused by a defective gene, it is present in the body from birth. However, this is not necessarily obvious. In fact, this is why we like to call it the “invisible” disease. Many people with FH just think they have high cholesterol that can be lowered with the right food until, one day, they are only 38 years old and they have a heart attack! Symptoms are not necessarily present. Signs of FH are different in every patient and they may or may not include the following:  

  • family history of early heart disease or heart attacks (before age 55 in men and before age 65 in women)
  • high LDL-cholesterol (above 190 mg/dL in adults and above 160 mg/dL in children)
  • chest pain or angina
  • bumps or lumps on the skin (these are deposits of excess fat called xanthomas)

  But remember, you don’t have to have visible symptoms to have FH. Here’s a formula to help you remember the two main signs of FH:  

F+H= FH

Family history of early heart disease + High LDL-cholesterol = Familial Hypercholesterolemia


3. Are you affected by FH all your life?

Yes, FH is a lifelong journey. It’s not a temporary condition, like the common cold; it’s in your genes. When you have FH, the most important step to take is therapies prescribed by your physician. But while this is the most essential measure, it’s not the only one. FH also means controlling weight, not smoking, eating a balanced diet low in saturated fat, and exercising. What is more, FH means bringing your family together to understand the impact of this disease. FH means living healthy, as individuals and as a family.  

4. Is there a way to prevent FH?

FH is not preventable per se. You either inherit the gene (or genes) or you don’t. What you could potentially prevent, however, is the heart disease associated with it. We like to say that with FH you inherit the condition, but not the heart attack. If left untreated, FH leads to early and aggressive heart disease, atherosclerosis (narrowing and blocking of the blood vessels), and heart attacks. This is why early diagnosis and treatment are crucial.


5. Is there a cure?

FH is not curable. However, it IS treatable. And we mean this in the most optimistic way possible. Now, more than ever, there are various treatment options for people with FH. This realistically means that individuals with FH could lead normal lives, if diagnosed early and treated adequately.


6. Does health insurance cover FH. What if I don’t have health insurance?

Standard FH therapies are covered by standard health insurance. If you don’t have health insurance, check for available free resources from your local city or county. Certain FH treatments (like statins) are more affordable ($5/month). Please discuss with your healthcare provider which treatment is right for you. Remember, any treatment is better than none.


7. I have been diagnosed with FH. I want to get my family tested, but they refuse. How do I convince them?

First and foremost it is important to remember that FH runs in families. If you have FH, the question isn’t “Does anyone else in my family have it?”. The question is “Who in my family has it?”. Of course, only you know how to best approach your relatives. But make sure they fully understand that this is a lifelong condition that requires consistent treatment and the sooner they rule it out, the better.


8. Where can I find a lipid (cholesterol)/FH specialist?

The FH Foundation provides an FH Specialist Search Tool to help you find a lipid(cholesterol)/FH specialist near you. If you are not able to find one in your location, please contact us at 626-583-4674 or info@thefhfoundation.org and we will do our best to help.


9. I have been diagnosed with FH but I don’t want to take medication. Can I lower my cholesterol through a low-fat diet?

FH causes excessively high LDL-cholesterol levels. This is dangerous as it leads to cholesterol getting built up in your blood vessels, leading to atherosclerosis, heart attacks, and even death. While it is important to be mindful of your diet, this is almost never enough to manage your condition.

In all cases, FH requires aggressive treatment. Consult an FH specialist to find the best therapy regime for you.


10. I have just been diagnosed with FH. What now?

Firstly, breathe! We are here to help. It is important to understand your condition and what it means for you and your family. Learn more about Familial Hypercholesterolemia here. If you need to find a medical professional who treats this condition, click here. Join our Patient Discussion group on Facebook to connect with other FH families. And of course, please feel free to call us at 626-583-4674 or email us at info@theFHfoundation.org with your questions.


11. How is Familial Hypercholesterolemia different from Hypercholesterolemia/Hyperlipidemia?

Your clue here is “Familial”. By definition, hypercholesterolemia (or hyperlipidemia) simply means high cholesterol. However, Familial Hypercholesterolemia is a lifelong condition that is inherited. Otherwise put, your genes cause it. Therefore, it is a lot more serious than simply having high cholesterol caused from diet and it requires more aggressive treatment. FH is a life-threatening disorder. Find out more here.

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One of the most common scenarios in patients with FH is being told that they have high cholesterol and that they need to change their diet. However, with FH, eliminating fried foods and cheesecake from your diet is not enough. While saturated foods should be completely avoided, your high LDL-cholesterol mainly has to do with your genes/ your family’s medical history.   With FH, the cause of your high cholesterol is NOT your diet. Even if you ate nothing but oats and fruits, you would still have high LDL-cholesterol because of your liver’s inability to keep up with recycling it.


12. I have heard the term “cascade screening” in relation to FH. What is cascade screening?

Cascade screening is not a certain type of blood test or certain kind of examination. It is simply a method of finding individuals with Familial Hypercholesterolemia. This method consists of screening entire families for FH. Because FH is genetic, this means that more than one person in a family has it (because they inherited it from someone else). Cascade screening means that when a health professional diagnoses someone with FH, they need to test the rest of their immediate family members for FH too.


13. How is FH diagnosed? Is there a specific blood test for it?

Diagnosis can be strongly suspected based on cholesterol levels (also called a lipid test or lipid panel). The diagnosis can be confirmed through additional information about your personal and family medical history, and certain physical exam findings (like xanthomas, bumps or lumps of cholesterol deposits on the skin).


15. What is the difference between Heterozygous and Homozygous Familial Hypercholesterolemia?

Heterozygous Familial Hypercholesterolemia (HeFH) is the most common form of FH (1 in 250 worldwide have it) caused when a child inherits one copy of a “bad gene” from one parent. Homozygous Familial Hypercholesterolemia (HoFH) is a very rare, but extremely severe form of FH (roughly 1 in 160,000 have it) caused when a child gets a “bad gene” from both parents. Typically, Heterozygous FH remains invisible for longer and Homozygous FH manifests itself earlier, with more visible signs such as xanthomas (bumps or lumps in the skin which are deposits of excess fat) and corneal arcus (a white arc near the colored part of the eye, which is often found by an ophthalmologist).