Living in the fast-paced modern life, from mental and work pressure to food safety anxiety, the proliferation of technology and hard work, an unhealthy lifestyle has quietly increased the risk of disease . According to statistics from the National Center for Cardiovascular Diseases, the number of people with dyslipidemia in China has exceeded 400 million . Cardiovascular and cerebrovascular diseases induced by blood lipids seriously threaten people's lives and health. In the latest "Summary of China's Cardiovascular Health and Disease Report 2021", it can be seen that the levels of total cholesterol (TC), triglycerides (TG) and low-density lipoprotein cholesterol (LDL-C) have increased significantly over the past 13 years. The most common indicators we see during physical examinations are: More and more people are in sub-health status, their blood lipid levels are not within the normal range, and the overall situation of abnormal blood lipids is worrying . In the context of the era of health, we have learned to "grasp both internal consumption and health care", "stay up late and apply the most expensive eye cream", "overeat while strengthening the stomach and digestion", "when people reach middle age, they have no choice but to soak wolfberries in a thermos cup"... Although this is a helpless choice to a certain extent, in the pursuit of physical health, active prevention is far better than passive treatment. Regular physical examinations and paying attention to the fluctuations of your own data indicators may be able to foresee future risks. Let's talk about what happened to Mr. Zhang. As a typical middle-aged man in contemporary society, Mr. Zhang, 42, considers himself young and strong. In addition, he is usually busy with work, so he rarely pays attention to his health, let alone taking time for a physical examination. However, one month ago, he felt weak all over and had a poor appetite. He could not eat many bites of his favorite dishes. At first, Mr. Zhang thought it was because he had been working all night and didn't get enough rest, so he took a leave to rest for a while. However, the feeling of physical discomfort still didn't recover. It happened that the company's physical examination had not been done this year, so he thought of taking this opportunity to check his body. The results of the physical examination gave Mr. Zhang a temporary sigh of relief. The report indicated that only the blood lipid index was elevated, and there was no major abnormality in other indicators. Mr. Zhang thought that he could improve his condition by quitting drinking for a while, eating less greasy food, and increasing daily exercise, so he started to eat a light diet and increase aerobic exercise. As a result, after a period of time, he not only did not get any better, but became even more listless. Mr. Zhang did not dare to delay any longer and went to the hospital immediately for treatment. The doctor did some routine and biochemical tests for Mr. Zhang and found that among the four items of his blood lipids, the low-density lipoprotein cholesterol (LDL-C) and total cholesterol (TC) indicators were abnormally elevated . At the same time, Mr. Zhang took out the physical examination report from a month ago and told the doctor: "The physical examination also showed these two abnormalities. I wanted to adjust my diet and daily life at home, but there has been no improvement..." Mr. Zhang is young and not very fat, but his LDL-C and TC are abnormally high . Considering these circumstances, the doctor asked about his family. According to Mr. Zhang, his family is relatively healthy, but his mother also had high blood lipids and died at a young age. Upon hearing this, the doctor recommended that he do a genetic test . Sure enough, the genetic test showed that he carried a pathogenic mutation on the LDLR gene. Mr. Zhang had a genetic disease - familial hypercholesterolemia (FH) . After learning the diagnosis, Mr. Zhang was very puzzled. How could two high blood lipid indicators be considered a genetic disease? The doctor explained: "High cholesterol is caused by many factors. On the one hand, it is caused by external factors, such as long-term high-fat diet. If it exceeds the liver's metabolic capacity, it will cause cholesterol to rise. Unhealthy lifestyles such as lack of exercise and long periods of sitting can also affect cholesterol levels. In addition, some other metabolic diseases, such as hyperuricemia, diabetic nephropathy and hypothyroidism, can also lead to elevated cholesterol. On the other hand, it may be a genetic problem . Due to genetic factors, the body's lipid metabolism is abnormal, just like familial hypercholesterolemia. Some patients cannot completely control the cholesterol value within the normal range even through strict diet control ." Mr. Zhang muttered to himself: "At first I thought I just had high blood lipids." In this regard, the doctor emphasized: "These two diseases are both abnormal blood lipids, but they must be distinguished. Judging from the blood lipid indicators, familial hypercholesterolemia is mainly low-density lipoprotein cholesterol (LDL-C) is significantly higher than the normal value and is often accompanied by an increase in total cholesterol (TC) indicators. The low-density lipoprotein cholesterol (LDL-C) mentioned here is commonly understood as "bad" cholesterol. A large part of the reason for blood vessel blockage is due to it. Its increase will increase the probability of coronary heart disease and acute myocardial infarction. The abnormal increase of LDL-C is likely to indicate a genetic disease - familial hypercholesterolemia (FH). This is an autosomal (co) dominant genetic disease, with genetic factors accounting for 60% to 80%. Some patients will also find yellow bumps (xanthomas) in the eyes and joints. What's more serious is that they will also have early-onset coronary heart disease, and even suddenly in young and middle-aged people, seriously endangering their lives." Mr. Zhang wondered: "How high should this index be for us to be concerned?" The doctor explained: "The most appropriate blood lipid index varies from person to person. We need to conduct a cardiovascular disease risk assessment based on our other diseases to determine the LDL-C value we need to achieve. Of course, this indicator is not the lower the better. Low LDL-C may indicate diseases such as malnutrition or chronic anemia. Total cholesterol (TC) is the sum of cholesterol contained in various lipoproteins in the blood. TC levels have a strong suggestive significance for cardiovascular disease risk and have a predictive effect on atherosclerotic cardiovascular disease. High blood lipids are usually characterized by elevated triglycerides (TG) and/or total cholesterol (TC), elevated low-density lipoprotein cholesterol (LDL-C), and decreased high-density lipoprotein cholesterol (HDL-C). Among them, triglycerides are the most variable indicator, because after food fat is eaten, it is immediately absorbed by the small intestine and turned into triglycerides. Therefore, if the same person is tested before and after a meal, or in the morning and evening, the difference in values will be particularly large. This is also an indicator that is relatively easy to control among blood lipid indicators. " After listening to the doctor's introduction, Mr. Zhang had a clear understanding of familial hypercholesterolemia, but he was still wondering why the high blood lipids mentioned by the doctor were clearly " high ", so why was there an indicator for lowering them? What is the use of high-density lipoprotein cholesterol ? The doctor explained: "High-density lipoprotein cholesterol (HDL-C) is the 'opposite' of low-density lipoprotein cholesterol (LDL-C) from the name. HDL-C can also be understood as 'good' cholesterol. It can reduce the deposition of cholesterol in the blood vessel wall, play an anti-atherosclerotic role, and reduce the risk of coronary artery disease. If this indicator is low, it indicates a higher risk of atherosclerosis." The doctor added: "In fact, it is difficult to distinguish FH from ordinary hyperlipidemia based on the clinical manifestation of elevated LDL-C levels mentioned above. Genetic testing is the gold standard for diagnosing FH . According to expert consensus, FH can be diagnosed by finding pathogenic variants in LDLR, ApoB or PCSK9 genes. Therefore, genetic testing can help patients achieve early detection, early intervention and early treatment." After the diagnosis, Mr. Zhang was very scared when he thought that the disease was hereditary, and he was always worried about his son. At the suggestion of the clinician, his son Xiao Zhang immediately came to the hospital for a genetic test. The result also surprised Xiao Zhang. Although he felt very healthy, he still couldn't escape the fate of family inheritance. He carried the pathogenic mutation inherited from his father and was also a patient with familial hypercholesterolemia. Fortunately, it was discovered early, in the early stage of the disease, and there was no cardiovascular disease for the time being. In this regard, the doctor developed a treatment plan for Mr. Zhang, encouraging him to participate in physical exercise within the limits of his body to reduce the risk of atherosclerosis and other conditions. The doctor also developed a targeted treatment plan for Xiao Zhang and recommended that he regularly undergo blood lipid tests to monitor the progression of the disease through dynamic changes in order to better delay the course of the disease and improve the prognosis. Mr. Zhang couldn't help but sigh: " If it weren't for this physical examination, how could I have discovered such a life-threatening disease in my family!" In Mr. Zhang's case, genetic testing first helped clinicians make a clear diagnosis , confirming that Mr. Zhang had familial hypercholesterolemia due to carrying a specific pathogenic mutation. Secondly, genetic testing also provides certain guidance for clinical treatment . In addition, since this is a hereditary disease, genetic testing also indicates the risk of high-risk relatives . Through screening, Xiao Zhang, a high-risk relative of the disease, was also found and diagnosed and treated in the early stages of the disease. At the same time, genetic testing can also guide eugenics . If Xiao Zhang wants to start his own family in the future and wants a healthy child, he can also go to a qualified institution for prenatal diagnosis or genetic testing before embryo implantation to avoid the disease in his offspring and block the transmission of the disease in the family. Mr. Zhang's story reminds us that we should have regular physical examinations . But we should also understand that our daily physical examinations can only reflect the current physical condition, and the blood lipid content changes dynamically with the metabolism of lipids in the body. Real-time blood lipid testing only reflects the current blood lipid level, and the dynamic change pattern of blood lipids is more meaningful for reference. Therefore, it is recommended that high-risk groups, especially those who are older or have other chronic diseases, develop the habit of regularly monitoring blood lipids and judge their own health status by the pattern of blood lipid changes. Everyone is the first person responsible for their own health . It is better to prepare for the disease before it happens than to cure it after it has happened. Regular physical examinations may help you avoid the pain of possible illness. Original article, no reproduction without authorization |
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