Distinguishing High Cholesterol
Maggie and Her Family’s Story
“Thanks to the FH9 Panel, the health of my entire family has vastly improved!”
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.
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 “normal high cholesterol”. This means that more than 90% of the FH patients suffer from the disease without knowing it. Like them, I never knew that 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.
What exactly is Familial Hypercholesterolemia?
Familial Hypercholesterolemia (FH) is a genetic disorder characterized by high levels of cholesterol. If you have FH, it means that your body cannot eliminate excess low-density lipoprotein (LDL) from your bloodstream because of a mutation in one of the genes tasked with clearing cholesterol from your body. Unattended, FH can lead to early-onset heart disease. People with FH are 20 times more likely than the general population to develop early aggressive heart disease¹. Most people with FH are misdiagnosed and more than 90% do not even know they suffer from FH ².
Who should be taking the FH9 Panel?
Everyone with persistent high cholesterol should be taking this test, especially:
Children with persistent LDL-C levels of ≥4.1mmol/L
Adults with persistent LDL-C levels ≥4.9mmol/L
Anyone with a family history of high cholesterol or premature coronary arterial diseases
How does the test help to identify FH in your family?
FH9 Panel designed to help you 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 familial hypercholesterolemia - namely APOB, APOE, LDLR, LDLRAP1, PCSK9, ABCG5, ABCG8, STAP1, LIPA - this proven test panel can effectively identify gene mutations that cause familial hypercholesterolemia, 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 FH³. Therefore, doctors may recommend PCSK9 inhibitor therapy or the new small interfering RNA (Si-RNA) inclisiran drug. These two injectable therapies can reduce liproprotein(a) by 25-30% and 18.6–25.6% respectively⁴ ⁵.
Helping one family at a time
We’re offering special rates for your family members!
Testing positive for FH can be overwhelming for your family. Committed to foster your peace of mind, GemVCare supports you and your family by offering testing tailored to screen for your specific mutations at special rates ^.
Please click here to understand more about how it works!
^1. This test only includes the specific likely pathogenic genetic mutation of the first patient, must be confirmed and referred by a doctor, and does not include other fees (e.g. doctor consultation fee).
2. The patient must provide a copy of the first patient’s report and a doctor’s referral letter to verify the need for testing.
3. All family members receiving the test must be referred by the same clinic or hospital as the first patient.
4. The company reserves the right to make the final decision on the offer and any disputes and can change the terms and conditions of this offer without prior notice.
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.
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.
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.
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.
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.