What Is Primary Hypercholesterolemia?

Primary hyperlipoproteinemia is a group of hereditary disorders of plasma lipid metabolism, characterized by elevated plasma lipids.

Primary hyperlipoproteinemia

Primary hyperlipoproteinemia is a group of hereditary disorders of plasma lipid metabolism, mainly with elevated plasma lipids

Disease Name (English) primary hyperlipoproteinemia

Pinyin YUANFAXINGGAOZHIDANBAIXUEZHENG

Western medicine disease classification code

Generally can be divided into five types.

The diagnostic criteria of hyperlipoproteinemia:

1. Serum cholesterol (Ch) and / or triglyceride (TG) are elevated, which is called hyperlipidemia; elevated serum lipoproteins or abnormal lipoproteins are called hyperlipoproteinemia.

2. Exclude secondary hyperlipoproteinemia such as diabetes, nephrotic syndrome, hypothyroidism, pancreatitis, biliary obstruction, contraceptives, abnormal globulinemia, etc.

3. Primary people often have a family history. May have xanthomas, atherosclerosis and other manifestations; those with significantly increased blood TG may develop fatty liver, or acute pancreatitis.

4. Classification and diagnostic criteria of hyperlipoproteinemia

Attachment: Classification of Hyperlipoproteinemia (WHO. 1970)

: Hyperchyliemia: chylomicrons, normal VLDL

a: Hyperbetalipoproteinemia: abnormally elevated LDL, normal VLDL,

b: Hyperbetalipoproteinemia: LDL is often elevated, VLDL is elevated, and cholesterol is high.

: Abnormal lipoproteinemia:% 26 # 09; VLDL, LDL are abnormal.

: Hyperpro-betalipoproteinemia: elevated VLDL, normal LDL, no chylomicrons

: Hyperpro-betalipoproteinemia and Hyperchyliemia: Increased VLDL with chylomicrons

If the father and mother beta have elevated blood cholesterol at the same time or have a history of myocardial infarction before the age of 50, it is particularly necessary to be alert to the possibility of this disease.

Familial hypercholesterolemia, which is more common in children, is an autosomal dominant inheritance. Due to the lack of low-density lipoprotein (LDL) receptors in the cell membrane, -lipoprotein in the blood cannot be absorbed into cells for normal degradation And cause metabolic disorders. Homozygous patients often have nodular xanthoma in the skin and tendons after birth or childhood. Coronary arteriosclerosis can occur within 10 years of age, and it progresses progressively. The prognosis is often poor. Heterozygous patients may be asymptomatic in childhood, and a few have nodular xanthomas and lipokeratitis, and common skin xanthomas to adulthood, with rapid progress of coronary heart disease.

The patient's plasma was cleared on fasting, blood cholesterol increased, triglycerides were normal or slightly higher, and lipoprotein electrophoresis: lipoprotein increased. It is generally considered that children with blood cholesterol exceeding 6.24mmol / L (240mg / dl) can be regarded as abnormal.

Differential diagnosis should exclude secondary hyperbetalipoproteinemia caused by cretinism, obstructive jaundice, and nephrotic syndrome.

1. 1974 criteria for the assessment of blood lipid increase efficacy (cholesterol + triglyceride) formulated by the Shanghai Fufang Danshen Cooperative Group

(1) Classification of hyperlipidemia In order to evaluate the severity of hyperlipidemia, the following classification was performed.

Mild: <normal value + 50mg.

Moderate: <normal value + 100mg.

Severe:> normal value + 2000mg.

(2) Efficacy classification of blood lipids Mild increase in blood lipids: markedly effective: blood lipids decreased to normal levels. Ineffective: The blood lipid has not fallen to normal levels. Aggravation: blood lipids rise to moderate standards.

Moderate blood lipid elevation: markedly effective: blood lipid decline to normal levels. Effective: The blood lipid drops to a mild standard. Ineffective: The blood lipid drop did not reach the mild standard. Aggravation: The blood lipid increased to severe standard.

Severe blood lipid elevation: markedly effective: blood lipid decreased to a mild standard or normal level. Effective: The blood lipid level has fallen to a moderate level or the blood lipid level has not reached a moderate level, but the absolute value has decreased by more than 100 mg. Ineffective: The level of blood lipid decline did not reach the moderate standard. Aggravation: The absolute value increases by more than 100mg.

2. China Recycling Magazine 1988; (1): 50

(1) Significant effect: TC decreased by more than 15%; TG decreased by more than 30%; HDL-c increased by 10mg / dl (0.26mmol / L or more; TC-HDL-c / HDL-c decreased by more than 20%.

(2) Medium efficiency: TC decreased by 10% to 14%; TG decreased by 20% to 29%; HDL-c increased by 0.18 to 0.23mmol / L (7 to 9mg / dl); TC-HDL-c / HDL-c decreased 10% to 14%.

(3) Effective: TC decreased by 5% to 9%; TG decreased by 10% to 19%: HDL-c increased by 0.1 to 0.16mmol / L (4 to 6mg / dl); TC-HDL-c decreased by 10% to 14% .

(4) Invalid: TC drops below 5% and rises below 10%; HDL-c rises and falls below 0.1mmol / L (4mg / dl); TG and TC-HDL-c / HDL-c rises and drops below 10%.

(5) Deterioration: TC, TG, TC-HDL-c / HDL-c increased by more than 10%; HDL-c decreased by more than 0.1mmol / L (4mg / dl).

The main treatment is diet control. Under the premise of ensuring sufficient protein and thermal energy, the requirement of fat mass is limited to about 20% of the thermal energy. If necessary, lipid-lowering drugs such as cholestyramine, also known as cholestyramine (0. 3 g / kg orally), nicotinic acid (0.15 mg / kg orally per day), clofibrate (antoum), aminosalicylic acid, and the like.