Time flies, flowers may bloom again, but people can never be young again. The nature of "being active" in childhood is gone, but the nature of "not wanting to move" remains as we grow up. As we enter society, we often sit for a long time in a day: commuting, working at a desk, eating, watching TV, browsing mobile phones... However, from "not being able to sit still" in the past to "being able to sit still" today, the risk of disease is quietly increasing without us realizing it. According to a survey by the World Health Organization, 2 million people die from prolonged sitting every year, and 70% of diseases are related to prolonged sitting. Other statistics show that deaths caused by thrombotic diseases account for 51% of the global death toll, far exceeding deaths caused by tumors, infectious diseases, and respiratory diseases. In daily life, a diet high in oil, salt, and sugar, as well as some bad living habits such as long-term sitting, all "promote" the formation of blood clots. Thrombosis can occur at all ages. Some people with genetic factors may even develop thrombosis in childhood. This is the case with Xiao Zhang, who is now in his twenties. In just one year, he was diagnosed with deep vein thrombosis on the left and right. During the treatment, Xiao Zhang's symptoms of lower limb swelling and pain not only did not improve significantly, but he also experienced chest tightness and shortness of breath after activities. Through examination and consultation, the doctor ruled out various possible inducing factors such as long-term sitting, bed rest, surgery, and trauma. In addition, Xiao Zhang's brother and sister all had venous thrombosis, so the doctor inferred that Xiao Zhang's deep vein thrombosis was likely caused by a genetic disease. Subsequent genetic testing finally confirmed the doctor's judgment-Xiao Zhang suffered from hereditary thrombophilia and needed long-term anticoagulant treatment. So what is this inherited thrombophilia and how does it relate to blood clots? Don’t worry, let’s start with blood clots. Part 1: What is thrombosis? You should have had a similar experience: your finger was accidentally cut, and the bleeding stopped immediately, but the bleeding stopped after a while. After a few days, the damaged skin scabs and the wound gradually healed. This is the coagulation and anticoagulation system in our blood working. When a wound occurs, the components of the body's coagulation system will gather to form a blood clot , which will block the wound and allow the damaged part to repair faster and better. After completing the filling task, our body will activate the anticoagulation and thrombolysis mechanisms to gradually dispose of the useless blood clots. It is not difficult to see that our body's coagulation and anticoagulation systems will always maintain a dynamic balance. The appearance of thrombosis is precisely because the dynamic balance of the coagulation and anticoagulation systems has been broken. The coagulation mechanism has the upper hand, while the hemolysis mechanism is at a disadvantage. Over time, the coagulated blood clots accumulate more and more, forming thrombosis, and the blood vessels are blocked. Part 2: What happens if a blood clot occurs? Although blood clots are small, they are extremely harmful. They are not only good at "blocking", but also "flowing" everywhere. Because blood clots exist in blood vessels, any part of our body's blood circulation system may be its home. Blood clots blocking blood vessels may cause local ischemia or blood stasis. Let's take deep vein thrombosis as an example. When blood clots block deep veins, the patient's typical symptoms are swelling and pain in the lower limbs, but there may be no particularly obvious symptoms in the early stages, which is why venous thrombosis is easily overlooked. The key is that blood clots are not solid and can easily fall off the blood vessel wall. This is the "detachment" of blood clots that catch us off guard. This detachment is not a big deal. The "free" blood clots will flow around along the blood circulation. If they flow to the lungs, it will cause what is medically known as pulmonary embolism, affecting our normal breathing. If there is a lack of oxygen, our lives will be threatened. In addition, if a blood clot blocks an artery and flows through the blood circulation to the heart and brain, it may induce myocardial infarction or cerebral infarction. Part 3: What is thrombophilia? Now that we know what thrombosis is, what exactly is thrombophilia? As the name suggests, it is a pathological state in which thrombosis is prone to occur. It can also be said that the body is often in a "thrombophilic state." There are many factors that affect the occurrence of thrombosis, including external factors, chronic diseases, and genetic factors. External factors such as surgery, major trauma, or certain diseases can cause damage or lesions in blood vessels, which can cause blood vessels to be in a damaged state for a long time, which in turn causes the coagulation mechanism to work all the time, thereby breaking the dynamic balance of the anticoagulation and coagulation systems. In addition, because some people have viscous blood, slow blood flow, and poor blood circulation, the blood clots in their bodies will grow from small to large, from few to many. Just like a river that has been in disrepair for a long time, the water flows slowly, and the silt in the river will accumulate more and more. The genetic factors that cause thrombosis are "innate". For example, Xiao Zhang in the opening case has genetic pathogenic mutations in his anticoagulation and coagulation systems, which makes frequent thrombosis inevitable . In fact, thrombophilia itself only describes a high-risk state of thrombosis, and what is fatal is the possible risk after thrombosis. Venous thrombosis is common in patients with thrombophilia, and the location and severity of the disease vary. If it is not controlled in time, it can cause fatal complications such as pulmonary embolism. Then the question arises. External factors are easy to understand, but what do genetic factors mean? How could the “original” system itself have problems? Part 4: Thrombophilia and genetic pathogenic mutations Genes are like blueprints, the core basis for the construction of our huge building, the human body. If there are errors in the blueprints, it will directly lead to various problems in the building structure. Our genes are inherited from our parents, and our parents' genes are inherited from their parents. In this way, the genetic blueprint is passed down from generation to generation, and it is also the secret of human reproduction. However, during the transmission process, the problems that may occur in the blueprint are equivalent to "pathogenic variants" in the gene, which will cause hereditary diseases and be passed on to future generations. This is also the case with hereditary thrombophilia. When each patient who carries a hereditary thrombophilia pathogenic variant gives birth to offspring, there is a 50% chance that the pathogenic variant will be passed on to the next generation, resulting in a patient. Although genetic diseases cannot be cured at present, we still have ways to fight the diseases and help future generations avoid the same fate of suffering from the same diseases. Part 5: Genetic testing as a powerful tool to deal with hereditary diseases In our country, the prevalence of thrombophilia in the general population is about 0.4%, which means that 4 out of 1,000 people suffer from the disease. However, most people with thrombophilia do not know their condition before diagnosis, and often go for examination only after serious symptoms appear. "Not knowing" the condition can sometimes be fatal. For patients with hereditary thrombophilia, once factors such as long-term sitting and bed rest are added, the risk of thrombosis will be greatly increased. In the event of pulmonary embolism, there will be an extremely high risk of death. Therefore, one of the magic weapons to deal with hereditary thrombophilia is early detection and early treatment. Nowadays, as people's health awareness increases, they will choose physical examinations to detect early signs of the disease. However, it is worth noting that in the early stages of thrombophilia, routine tests may not reveal lesions, and the clinical manifestations of thrombophilia are easily confused with other types of disease manifestations, resulting in misdiagnosis of the disease or delaying the best time for treatment. Genetic testing is a powerful means to assist clinical diagnosis and differential diagnosis. In addition, since hereditary thrombophilia has the characteristics of familial inheritance, genetic testing can also help identify high-risk relatives in the family who may also be ill, minimizing the harm caused by the disease. For patients who wish to have children, genetic testing is also an indispensable method to guide eugenics. Patients can go to qualified institutions for prenatal diagnosis or genetic testing before embryo implantation, and use genetic testing to prevent future generations from getting sick again, thereby ending the fate of family genetic diseases. Part 6: Other suggestions In addition to early detection and early prevention, a healthy lifestyle can also help us reduce the cumulative damage to the body caused by bad living habits. First of all, we should have a balanced diet and stay away from tobacco and alcohol. Secondly, we should really move and don't miss any possible exercise opportunities. Every step you take counts. At the same time, regular physical examinations will help monitor physical health indicators. I hope everyone pays attention to their own cardiovascular health and stays away from hereditary cardiovascular diseases. Okay, let’s stop here for today. Let’s get moving during the May Day holiday. Original article, no reproduction without authorization |
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