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FH Reference Standard
Familial hypercholesterolemia (FH) is an autosomal genetic disease with the main clinical manifestations of familial clustering. The serum low-density lipoprotein cholesterol (LDL-C) level is significantly increased and difficult to control with drugs. Coronary heart disease (CHD), ischemic stroke, and arteriosclerotic cardiovascular diseases such as peripheral arterial disease, xanthomas, and corneal arcus occur early and progress rapidly, and the risk of death in patients is significantly increased.
FH is an autosomal dominant hereditary disease. There are three recognized pathogenic genes in the world, LDL-R, PCSK9 and ApoB. About 400 million people are affected worldwide, with an incidence rate of 15%-25%, mainly distributed in Africa, Latin America, the Mediterranean and Southeast Asia. In my country, it is clinically divided into two types: heterozygous familial hypercholesterolaemia (heFH) and homozygous familial hypercholesterolaemia (hoFH). HeFH patients have accelerated progression of atherosclerosis. Untreated HeFH patients may develop premature coronary heart disease or even myocardial infarction.
At present, there is no research on FH gene mutation in a large population in my country, and only some specific mutation sites have been reported. The five mutations with the highest frequency include ApoB (10579C>T), LDLR (986G>A), (1747C>T), (1879G>A), and (268G>A). However, the relevant research data in my country in the above review mainly come from reports on individual homozygous mutation family studies, and there is currently no research report on the distribution and frequency of gene mutation sites in the Chinese population.
Research status
At present, epidemiological surveys on FH are mostly concentrated in Europe and the United States, such as the Netherlands, Finland, and the United States, while data in Asia are relatively scarce. Since there is no unified diagnostic standard, there are certain differences in the diagnostic standards for FH used in various countries and regions. Commonly used diagnostic standards include the Dutch DLCN (Dutch lipid clinic network) diagnostic standard, the British Simon Broome score, the American MEDPED (make early diagnosis to prevent early deaths) diagnostic standard, and the Japanese FH diagnostic standard. These diagnostic criteria include low-density lipoprotein (LDL) levels, disease history, family history, clinical phenotypes (such as xanthomas, corneal arcus) and other indicators.
The FH diagnostic criteria are mainly used to clinically identify and diagnose FH, and are also one of the foundations for research and development of FH identification tools and cardiovascular risk prediction systems. Different diagnostic criteria can develop different identification and prediction systems. Genetic testing is the gold standard for FH diagnosis, but the high cost of testing and consultation has not yet been covered by social medical insurance, which has also limited its practical application in early FH screening.
Product Data
In the FH detection experiment, how to judge the accuracy of the results, standard products are indispensable. CB-Gene now launches FH-related standard products, which mainly include standard products, and other sites will be launched in the future.
Some product data display
Fig 1. Results of dPCR with LDLR p.H583Y Reference Standard and LDLR p.A627T Reference Standard.
CB-Gene FH standard products use Sanger sequencing to verify mutation sites, and ddPCR method to accurately determine mutation frequency. Kebai FH gene mutation reference products include relatively common or high incidence mutation types in clinical practice, which can help laboratories evaluate the performance of related products better and more effectively.
