This common genetic disease cannot be ignored

  Recently, a thin grandma Li came to the hospital consultation room. Grandma Li found high cholesterol every time she had a physical examination, so she has been on a diet, and sometimes even only eats vegetarian food. People are getting thinner and thinner, but cholesterol remains high. After physical examination, it was found that Grandma Li had xanthoma in the corner of her eye, and her son also had hypercholesterolemia.
  When it comes to high cholesterol, people often think of people who eat greasy diets and are overweight and obese. But Grandma Li’s situation is quite the opposite. Why is this? Grandma Li is likely to have a disease called “familial hypercholesterolemia”.
   What is familial hypercholesterolemia?
   Familial hypercholesterolemia (FH) is one of the common autosomal dominant genetic diseases. It is caused by mutations in one or more key genes involved in the catabolism of low-density lipoprotein cholesterol (LDL-C).
  The main manifestations are abnormally elevated serum low-density lipoprotein cholesterol, which is prone to premature atherosclerotic diseases (stroke, myocardial infarction, coronary heart disease, peripheral arteriosclerosis, etc.). Xanthoma (skin, tendon lipid deposition), skin lesions, etc. may appear in some cases.
   The thickening of the inner wall of blood vessels, lumen stenosis, and atherosclerosis can be seen through B-ultrasound, CT and other imaging examinations.
   Types of familial hypercholesterolemia
   FH can be divided into heterozygous familial hypercholesterolemia (HeFH) and homozygous familial hypercholesterolemia (HoFH).
   Homozygous FH develops earlier and more severely than heterozygous FH.
   The prevalence of heterozygous FH (the child acquires the pathogenic gene from one parent) is 1/500 to 1/200, and the LDL-C level of the patient is 2 times higher than that of the general population, and angina pectoris, myocardial infarction, Stroke etc.
   The prevalence of homozygous FH (children who have acquired the causative gene from both parents) is 1/300,000 to 1/160,000, and the patient’s LDL-C level is 4 to 5 times higher than the general population, and severe early-onset atherosclerosis can occur Sclerosing cardiovascular disease, even life-threatening.
   How is familial hypercholesterolemia treated?
   1. Management goals
  Control cholesterol and monitor regularly to prevent atherosclerosis early. Pay special attention to the condition of large arteries such as coronary arteries and aorta; check cardiac ultrasound and aorta color Doppler every year; perform CT coronary angiography every 5 years.
   2. Treatment goals
  Strict control of LDL-C can not only prevent and delay atherosclerotic disease, but also reduce the incidence of myocardial infarction, coronary heart disease and other mortality. The therapeutic targets for LDL-C in adults are <1.8 mmol/L (with atherosclerotic disease) and <2.6 mmol/L (without atherosclerotic disease). The therapeutic target for LDL-C in children is <3.5 mmol/L. If it is difficult to achieve the above-mentioned therapeutic target value, it is recommended to reduce the serum LDL-C level by at least 50% relative to the baseline level.    3. Healthy lifestyle A low-cholesterol, low-fat, and low-salt diet is    recommended . It is recommended to use cooking methods such as steaming and boiling to avoid frying (deep-frying) and stir-frying. Smoking, marinating and processed meat are not recommended. It is recommended to eat more fresh whole grains, vegetables, fruits, aquatic products, vegetable oil, low-fat milk, limit poultry meat, animal fat, animal offal, and control the amount of nuts (average 10 grams per day, about 10 pistachios, mixed with various types) ). Quit smoking and limit alcohol intake, limit intake of sugar-sweetened beverages, exercise appropriately (at least 30 minutes of aerobic and resistance exercise at least 3 times a week), lose weight, and actively control risk factors such as hypertension and diabetes.    4.    Drugs Statin drugs are the main treatment drugs at present, which can prevent cardiovascular events (myocardial infarction, etc.). If statins are not effective in lowering LDL-C, ezetimibe can be added to further lower LDL-C by 10% to 15%.   In addition, the use of statins in combination with other cholesterol-lowering drugs can further reduce LDL-C levels, including bile acid sequestrants, niacin, fibrates, and probucol, but there may be a risk that the body may not respond well to these drugs , there are many adverse reactions and other problems, it should be used with caution.    5. Monoclonal Antibody to PCSK9    The antibody can further reduce blood LDL-C by 50% to 70% on the basis of statins. Currently approved for use are ilovolumab and alecizumab. The human body responds well to these drugs and is easy to use, but expensive.    6. Lipoprotein plasma exchange    If the effect of drug combination therapy is not good, plasma clearance can be considered. This treatment can reduce the LDL-C level before treatment by 55% to 70%, and the weekly clearance treatment can obtain the LDL-C level close to the normal level. The sooner plasma exchange is done, the better the patient's prognosis.    7. Novel    Drugs Lometopide and mipomysen were recently approved in the United States for the adjuvant treatment of HoFH patients aged ≥18 and ≥12 years, respectively. Lometopide reduces blood LDL-C levels by approximately 50%. Whether used alone or in combination with statins, mipomyson can reduce blood LDL-C by 25% to 37%.    Summary    ★ Because elevated cholesterol levels are often asymptomatic, many patients do not know they have the disease. Therefore, regular physical examination and early screening are very important.    ★It should be caused when there is early-onset atherosclerotic disease, adult serum LDL-C ≥ 3.8 mmol/L, children serum LDL-C ≥ 2.9 mmol/L, family or oneself with xanthoma or corneal arch, etc. Pay attention and go to the hospital in time to complete the screening.    ★Patients should actively cooperate with doctors, because early diagnosis, scientific management and strict control of LDL-C are the keys to effectively prevent cardiovascular and cerebrovascular diseases and reduce mortality.    ★A healthy lifestyle cannot be ignored. Diet and exercise are both very important to not only control hypercholesterolemia, but also prevent and treat related diseases. However, it is necessary to avoid excessive dietary control (such as excessive dieting). Improper dietary structure may lead to malnutrition, such as sarcopenia, which requires special attention in the elderly.    ★Statins are the first drugs to be used. When the effect is still not good after the maximum dose is applied, multiple combination therapy strategies can be used. Ezetimibe and other lipid-lowering drugs are usually used in combination, and lipoprotein plasma exchange can be selected if necessary.    ★Some medicines for the treatment of familial hypercholesterolemia may be contraindicated in pregnancy, so you should inform your doctor when you are pregnant, trying to conceive or breastfeeding.    ★During the treatment period, you should follow the doctor's advice and go to the hospital for regular check-ups. If there is any adverse drug reaction, please communicate with your doctor in time, and do not reduce or stop the drug without authorization.

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