tailieunhanh - PDQ BIOCHEMISTRY - PART 3

Các vấn đề cơ bản là một thụ thể LDL khiếm khuyết, và điều này có một cơ sở di truyền. Căn bệnh này được gọi là tăng cholesterol máu gia đình và di truyền rối loạn trao đổi chất rất phổ biến. Nếu cả hai gen cho các thụ thể LDL có khiếm khuyết (đồng hợp tử dưới hình thức của bệnh), bệnh nhân thường sẽ chết trước khi 20 tuổi. | 64 PDQ BIOCHEMISTRY terol rise with increasing concentration of LDL. The underlying problem is a defective LDL receptor and this has a genetic basis. The resulting disease is referred to as familial hypercholesterolemia and is a very common inherited metabolic disorder. If both genes for the LDL receptor are defective homozygous form of the disease patients will usually die before the age of 20 years. Cardiovascular disease is a common cause of death. If they have one defective gene heterozygous form the individuals will have a longer lifespan and manifest lower levels of serum cholesterol than do homozygotes although these levels will still be elevated in comparison with normals. Generally levels of plasma cholesterol mMol L or 200 mg dL are desirable. Be aware that elevated serum cholesterol in one individual if it has a genetic basis will have implications for other family members. Patients with elevated levels of serum cholesterol are usually first placed on diets with restrictions on meat and dairy products which are rich sources of cholesterol. In contrast plant and fish oils tend to reduce the incidence of cardiovascular disease as does exercise. Generally it is recommended that fat intake be reduced from 40 to 30 of calories ingested with increased ingestion of vegetables and fish. Such approaches may lead to weight loss which can for some be a desirable end result. On the basis of serum cholesterol values these dietary approaches may not be sufficient as you may certainly see patients who conscientiously remove dairy and meat from their diets yet their levels of serum cholesterol remain high. You will also see patients who say they are following a diet but in fact are not complying very well with your advice. This is all part of the real-world experience as you cannot literally spoon feed your patients. When diet does not succeed the use of drugs such as lovastatin related medications also have the -statin suffix to inhibit the synthesis of cholesterol