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家族性高膽固醇血症測試組合 | FH9


Discover Root Cause of High Cholesterol

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家族性高膽固醇血症測試組合 FH9

Familial Hypercholesterolemia Pane


Discover Root Cause of High Cholesterol

家族基因所用的級聯篩檢是一種成熟、高效及專為找出導致膽固醇超標原因而設的檢測方案。透過策略性地檢測與FH相關的最新9組基因(APOB, APOE, LDLR, LDLRAP1, PCSK9, ABCG5, ABCG8, STAP1, LIPA),FH9可有效地識別出導致FH的基因突變,有助制定治療方案降低低密度膽固醇水平,減低早期心臟病的風險。

​他汀類藥物通常用於降低低密度膽固醇水平,但此藥物不會降低脂蛋白(a)水平 — 一種在 30-50%FH患者中會上升的「壞」膽固醇³。因此,醫生可能會推薦 PCSK9 抑製劑或Inclisiran — 新型小干擾核糖核酸(Si-RNA)藥物作治療。這兩種注射治療可分別使脂蛋白(a)降低25-30%和18.6–25.6%⁴ ⁵。

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 FH³. 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% respectively⁴ ⁵.


Do you know?


High Cholesterol Not Only Caused by Acquired Dietary Habits


•總膽固醇水平等於或高於5.2 mmol/L;及/或
•低密度膽固醇(壞膽固醇)水平等於或高於2.6 mmol/L;及/或
•三酸甘油酯水平等於或高於1.7 mmol/L


Excessive cholesterol level generally refers to:

● Total cholesterol level ≥ 5.2 mmol/L; and/or
● Low-density cholesterol (bad cholesterol) level ≥ 2.6 mmol/L; and/or
● Triglycerides level ≥ 1.7 mmol /L

Many people believe that high cholesterol is related to dietary habits. But there is a group of people who have high cholesterol levels, especially low-density cholesterol, even with healthy dietary habits. They cannot lower the cholesterol levels through dietary and exercise. They must rely on drugs to control their cholesterol levels. Their high cholesterol is inborn.



Familial Hypercholesterolemia

家族性高膽固醇血症(FH)是一種遺傳病。由於患者體內其中一組控制膽固醇代謝的基因發生突變,無法消除血液中過剩的低密度膽固醇(LDL-C),導致患者的膽固醇水平偏高,超出正常標準。如無妥善治療,FH可能會引致早發性心臟病,其患者患上嚴重心臟病的風險亦較一般人高20倍¹。然而,大部份FH患者未經診斷,或被認為是一般高膽固醇,超過 90% 的患者患病而不自知 ²。

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 as “common high cholesterol” and more than 90% do not even know they suffer from FH².

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