Familial hypercholesterolemia clinical performance

Familial hypercholesterolemia is an autosomal dominant genetic disease, and the crowd occurred as a ratio : 500, characterized by low-density lipoprotein (LDL) - cholesterol levels were significantly increased, often more than 61 cents mole / L, with tendon xanthomas, and premature coronary heart disease. Because the liver is the cause of surface specificity of LDI-a decrease in the number of receptors or lack of, lead to liver blood circulation LDL-cholesterol decreased scavenging ability, turn caused blood circulation LDL-cholesterol levels increased. According to I-DL receptor number, divided into two types : homozygous familial hypercholesterolemia, and heterozygous familial hypercholesterolemia. Homozygous familial hypercholesterolemia clinical extremely rare, the incidence of only one millionth. Patients such as a lack of LDL receptor, soon after birth, serum total cholesterol level high, In general 18.l ~ 31.1 cents Moore / or between. Age of growth, in many parts of the body's skin and muscle tumors yellow-yellow tumor. Most patients in the past 40 years has serious and widespread atherosclerosis, coronary, carotid, iliac artery, femoral artery and so on would suffer and even at the age of three children die from myocardial infarction. Heterozygous familial hypercholesterolemia clinical practice is not uncommon. LDL receptor such patients is only half the normal number, the serum total cholesterol levels significantly higher than normal. Most patients with serum total cholesterol level will eventually reach 9.1 ~ 12.9 cents mole / L, xanthoma associated with skin and muscle-xanthoma happening. Patients often premature coronary heart disease, usually male patients in 40 ~ 50 years of coronary heart disease symptoms, and female patients than male about 10 years later occurred.