Familial Hypercholesterolemia Panel | FH9 —
Discover Root Cause of High Cholesterol
Discover the root cause of your high cholesterol levels
Cascade screening for familial genes is a well-established, highly efficient and specifically designed strategy for finding the cause of high cholesterol levels. By strategically testing 9 updated genes associated with FH (APOB, APOE, LDLR, LDLRAP1, PCSK9, ABCG5, ABCG8, STAP1, LIPA), FH9 can effectively identify gene mutations that cause FH, and therefore help determine a treatment plan to reduce the risk of early heart disease.
Statins are commonly used to reduce cholesterol levels, but they do not reduce lipoprotein(a) levels, a type of “bad” cholesterol elevated in 30-50% of patients with FH¹. Therefore, doctors may recommend PCSK9 inhibitor therapy or Inclisiran - the new small interfering RNA (Si-RNA) drug. These two injectable therapies can reduce liproprotein(a) by 25-30% and 18.6–25.6% respectively (2,3).
Did you know?
Excessive Cholesterol is Not Just Caused by Eating habits
Excessive cholesterol generally refers to:
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Total cholesterol level is equal to or higher than 5.2 mmol/L; and/or
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LDL cholesterol (bad cholesterol) level is equal to or higher than 2.6 mmol/L; and/or
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Triglyceride levels equal to or higher than 1.7 mmol/L
While many associate excessive cholesterol with dietary choices, there is a subset of people who maintain healthy eating habits and exercise regularly yet still experience elevated cholesterol levels, particularly low-density lipoprotein (LDL) cholesterol. Just changing their eating habits and exercising more will not be sufficient for them to reduce excess cholesterol. Since their high cholesterol level are "natural", they need to rely on medication to control it.
Familial Hypercholesterolemia
Familial hypercholesterolemia (FH) is an inherited condition characterized by mutations in one of the genes that regulate cholesterol metabolism which render the patient unable to eliminate excess low-density cholesterol (LDL-C) from the bloodstream, resulting in the patient's cholesterol levels exceeding normal standards. Left untreated, FH may lead to the blockage of blood vessels and increase the risk of premature heart disease, with individuals facing a 20-fold higher risk of severe heart disease compared to the general population⁴. However, since most FH patients are either undiagnosed or diagnosed with generally excessive cholesterol, up to 90% of FH sufferers don’t even know that they suffer from this condition⁵.
Target Groups
Everyone with persistent high cholesterol level, especially
Family history of high cholesterol or premature coronary arterial diseases
Adults with persistent LDL-C levels of ≥ 4.9 mmol/L
Children with persistent LDL-C levels of ≥ 4.1 mmol/L
Complete Your Journey with GemVCare
How it works
Specimens will be sent to our testing center for analysis and the test will be completed within 22 working days.
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Depending on your test results, your family may also need to be tested to help identify their health conditions early.
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Collect specimens at designated centers
•Oral cell specimen / Blood specimen
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Reports will be explained by your healthcare provider and an appropriate disease management plan will be designed accordingly.
Users's Experience
“Thanks to the FH9, the health of my entire family has vastly improved!”
About 2 years ago, I found out my cholesterol levels were too high during a body check. I did not pay much attention to it at the time as I thought this was pretty common. But after my young uncle had a sudden heart attack, I decided to take better care of myself and lower my cholesterol levels. I began exercising and changed my diet, but my cholesterol levels remained stubbornly high.
I told my doctor and he immediately suspected that I had familial hypercholesterolemia (FH) and said I should go for a FH genetic test. He explained that FH is a genetic disease and that because there are no obvious symptoms, it is often misdiagnosed as “common high cholesterol”. However, FH is much more serious than normal high cholesterol and that FH sufferers like me are more likely to develop early-onset heart disease than other people.
The test results showed that one of my genes had a mutation known to cause high cholesterol. Since genes are inherited from parents, my brother also has a 50% chance of carrying that same gene mutation. I immediately urged my family to take the test. Unfortunately, both my mother and my brother have the same gene mutation, which means they also have high cholesterol. My mother also discovered that her heart blood vessels had become narrowed due to cholesterol accumulation. The doctor recommended her to undergo a Percutaneous Coronary Intervention (PCI). Thanks to FH9, the doctor was able to recommend an effective treatment plan for me and my family to lower the cholesterol level and the risk of developing heart disease at early stage.
*This story is inspired by our users' experiences and feedbacks and is presented here as illustration. Since each patient is unique, our services should not be seen in any way as guaranteeing outcomes.
Maggie and
Her Family
References：
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Vuorio A, Watts GF, Schneider WJ, Tsimikas S, Kovanen PT. Familial hypercholesterolemia and elevated lipoprotein(a): double heritable risk and new therapeutic opportunities. J Intern Med. 2020 Jan;287(1):2-18. doi: 10.1111/joim.12981. PMID: 31858669.
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Tsimikas S, Gordts PLSM, Nora C, Yeang C, Witztum JL. Statin therapy increases lipoprotein(a) levels. Eur Heart J. 2020 Jun 21;41(24):2275-2284. doi: 10.1093/eurheartj/ehz310. PMID: 31111151.
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O'Donoghue ML, Fazio S, Giugliano RP, Stroes ESG, Kanevsky E, Gouni-Berthold I, Im K, Lira Pineda A, Wasserman SM, Češka R, Ezhov MV, Jukema JW, Jensen HK, Tokgözoğlu SL, Mach F, Huber K, Sever PS, Keech AC, Pedersen TR, Sabatine MS. Lipoprotein(a), PCSK9 Inhibition, and Cardiovascular Risk. Circulation. 2019 Mar 19;139(12):1483-1492. doi: 10.1161/CIRCULATIONAHA.118.037184. PMID: 30586750.
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The FH Foundation. (n.d.). What are the risks with FH. https://thefhfoundation.org/familial-hypercholesterolemia/what-are-the-risks-with-fh#:~:text=If%20left%20untreated%2C%20people%20with,before %20the%20age%20of%2050.
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Nordestgaard BG, Chapman MJ, Humphries SE, et al. Familial hypercholesterolemia is underdiagnosed and undertreated in the genera population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society. E Heart J. 2013;34(45):3478-90a.