Familial hypercholesterolemia which clinical performance?

Familial hypercholesterolemia is an autosomal dominant genetic diseases, the crowd in a ratio of 1:500, characterized by low-density lipoprotein (LDL) - Cholesterol levels were significantly increased, and often more than 61 cents mole / liter, with tendon Xanthoma and premature coronary heart disease. Cause liver surface is due to the LDI-specific decrease in the number of receptors or lack of blood circulation to the liver resulting in the removal of LDL-cholesterol decreased, which caused blood circulation in the level of LDL-cholesterol increased. According to I-DL receptor number, divided into two types: type homozygous familial hypercholesterolemia and type heterozygous familial hypercholesterolemia.
Type homozygous familial hypercholesterolemia clinical extremely rare, the incidence of churn. Because such patients lack of LDL receptor, soon after birth, serum total cholesterol level high, generally 18. Moore l ~ 31.1 cents / liter between. The age of the growth in many of the body's parts in the skin and muscle of yellow-yellow tumor. Most patients in the past 40 years have serious and widespread atherosclerosis, coronary, carotid, iliac artery, femoral artery, and so will be involved, or even three children died at the age of myocardial infarction.
- Heterozygous familial hypercholesterolemia clinical not uncommon. LDL receptor number of such patients is only half the normal number, so the serum total cholesterol levels were significantly increased, the majority of patients with serum total cholesterol level could eventually reach up 9.1 cents to 12.9 mole / liter, with yellow skin tumor and muscle in the incidence of yellow. Often occurred in patients with premature coronary heart disease, male patients usually 40 to 50 years old in coronary heart disease symptoms, and female than male patients and about 10 in late.