Familial Hypercholesterolemia (FH)

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What is Familial Hypercholesterolemia (FH)?

FH is a genetic condition in which high cholesterol levels are passed down in families, increasing the risk of premature heart disease (i.e. chest pain, heart attacks, strokes) by up to 20 times over people without the condition.

It is the most common form of inherited heart disease, with one baby born with FH every minute1. Worldwide, 1 in 250 people have FH1. This means that approximately 20,000 people are affected in Singapore.

Hear what these FH patients have to say, or read on to find out more.

Mei Yen, a young mother, talks about how she couldn’t believe she had high cholesterol. Now that she knows she has FH, she plans to ensure her children get the care they need.
Watch the video here.

Ziyang was initially afraid of taking medication for life, but now he feels that it gives him the confidence to plan for a good future ahead.
Watch the video here.

Hear how Wei Liang had side effects from his treatment and worked with his doctors to change his treatment so that he is now able to control his cholesterol without side effects.

Watch the video here.

How is FH different from other causes of high cholesterol?
  • Anyone can develop high cholesterol as they age, due to a combination of diet, obesity and genetic factors. However, the high levels of cholesterol in FH are almost entirely caused by a change in a gene that is passed down in families.
  • Most people who develop high cholesterol as a consequence of lifestyle factors do so later in life. However, people with FH have high cholesterol levels from birth. Cholesterol accumulates in their blood vessels over a lifetime, elevating their risk of heart disease by approximately 20 times over that of people with normal cholesterol.2, 3
  • Most patients with FH need medication, along with lifestyle changes (modifying diet and increasing exercise), to achieve a healthy cholesterol level and prevent heart disease. Lifestyle-related high cholesterol can sometimes be controlled with lifestyle changes alone.

Figure 1: Cholesterol build-up over a lifetime for 3 different types of individuals
How is FH passed down in families?

FH is passed down in families. If one of your parents has FH, you will have a 50% chance of inheriting FH. If one of your siblings or children has FH, you also have a 50% chance of having it.

Figure 2: Representative diagram of Heterozygous FH inheritance
Can FH be treated?

Although FH greatly increases the risk of heart disease, which can reduce lifespan and quality of life, these bad effects are very preventable if FH is detected and treated early, especially in childhood.

Medications that lower cholesterol (i.e. statins) are widely available, and have been shown to lower the risk of heart disease and heart attacks in patients with FH, thus extending life. In fact, children with FH who are detected and treated around age 8 to 10 can go on to have normal lifespans.1

Figure 3: FH patients who are treated as children can go on to have normal lifespans


For adults too, treatment can reduce the risk of heart disease and prolong life.

The Dutch Study – effects of treatment at adulthood for FH patients over 8.5 years

Finding 1 – A study in the Netherlands4 showed that adult FH patients treated with statins for almost a decade reduced their risk of heart disease (including heart attack, atherosclerosis and chest pain) by 4 times compared with adult FH patients who were not treated with statins.

Finding 2 – Among the older FH patients (aged >55 years), the risk of a heart attack was much higher in those who were not on statins than in normal people of similar age.

Figure 4A: Older adults with FH had a higher risk of heart attack than that of a normal person


Strikingly, statin treatment returned the risk of heart attack for this group of patients to that of normal people.

Figure 4B: Treatment with statins can reduce the risk of heart attack in FH patients to normal levels
How is FH diagnosed?

The most important test for FH is a simple measure of the cholesterol level in your blood, just like the cholesterol test in any health screening.

However, due to the fact that FH is an inherited condition, the screening for FH needs to be carried out earlier than is usually recommended in Singapore (at age 40). This can be followed by a genetic test, although genetic testing may not be necessary for every patient.

Since FH runs in families, the most effective way to identify patients with FH is to screen the family members of those who are affected.

Why is FH still a problem today?

Unfortunately, most (>90%) individuals with FH are unaware of their condition and are therefore not on treatment.

There are many reasons why people do not get screened for FH. One of these is that people with FH may not show any physical signs and could feel fine.

Another reason is that, even though screening involves a simple blood test to measure cholesterol (just like in routine health screening), many younger people believe that high cholesterol only occurs in people who are older or overweight and that it could not happen to them.

That is exactly how Mei Yen, a young mother with FH, felt when she was diagnosed with FH.

Fortunately, she did go for screening when she realized that she had a strong family history of heart disease and high cholesterol. This allowed her to be diagnosed and treated early. Now, she intends to take her young daughters for screening as soon as they are old enough to be treated.

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I just found out I have FH. What does it mean for my future?

At any age, discovering that one has FH could be life changing. Some people are worried about what the diagnosis will mean for their lives.

Meet Ziyang, a patient with FH who also struggled to believe that he could have this condition and was worried about his future. Hear how he overcame those fears and concerns with the support of his family and his team of doctors, and how he now feels more able to plan for a long and healthy future.

Click here for Chinese or Malay subtitles.

Others are worried that they have to be on medication for life, and that the medications may have side effects.

Wei Liang was diagnosed in his late 30s when he already had heart disease and had to make some lifestyle changes to help control his cholesterol level. He also suffered side effects from his medications. Fortunately, he shared these struggles with his doctor and was able to work with his doctor to find a medication that controlled his cholesterol level, without the side effects.

There are many types of medications that can be used to treat high cholesterol today. Most patients, by working with their healthcare team, can find the right medication for them.

Click here for Chinese or Malay subtitles.

I think I may have FH. What should I do now?

If you have a family history of high cholesterol and heart disease but have never been tested, get your cholesterol checked today, especially if there is also a family history of heart disease occuring before age 55 in men or age 60 in women in your family.

If you have very high cholesterol (> 240 mg/dL or 6.4 mmol/L), talk to your doctor about the possibility that you might have FH. If FH is suspected, ask about treatment to lower your blood cholesterol.

Encourage your family members to go for screening, even if they are young and feel well, so that they can be treated early and live long, healthy lives.

If you or your doctor are unsure about what to do, your doctor may decide to refer you to FHCARE. This is a team of healthcare professionals who are experienced in detecting and managing FH and have come together to support those who have, or are suspected to have, FH.

Contact FHCARE

  • By Phone: (+65) 6602 2346, (+65) 9674 5167, (+65) 9825 9793

Educational Materials (Downloadable)

Additional Resources Available

Professional organizations and useful websites

  • FH Foundation: Website of the FH Foundation, a U.S.-based non-profit organisation, housing a wide range of materials about FH for patients and clinicians
  • What is FH? Heart UK: A part of the website of Heart UK, a U.K.-based non-profit organisation focused on high-cholesterol disorders
  • FH Australasia Network: Website of the FH Australasia Network, which has content describing cholesterol and FH
References
  1. Wiegman A, Gidding SS, Watts GF, et al; for the European Atherosclerosis Society Consensus Panel. Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment. Eur Heart J. 2015;36:2425-2437.
  2. Goldberg AC, Hopkins PN, Toth PP, et al. Familial hypercholesterolemia: Screening, diagnosis and management of pediatric and adult patients. J Clin Lipidol. 2011;5:S1-S8.
  3. Khera AV, Won HH, Peloso GM, et al. Diagnostic Yield of Sequencing Familial Hypercholesterolemia Genes in Severe Hypercholesterolemia. J Am Coll Cardiol. 2016;67:2578-2589.
  4. Versmissen J, Oosterveer DM, Yazdanpanah M, et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ. 2008:337:a2423.
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