Hyperhomocysteinemia

Introduction At the end of the 1960s, McCully discovered pathologically that systemic atherosclerosis and thrombosis occurred early in patients with homocystinuria and cystathione. In the early 1970s, he confirmed homocysteine through animal models. Accumulation of blood in the blood can cause similar vascular damage. In the 1980s, hyperhomocysteinemia was proposed as an independent risk factor for atherosclerosis and coronary heart disease. Metabolic disorders of methionine lead to hyperhomocysteinemia, congenital cystathionine condensation enzyme deficiency or homozygous cystineuria is characterized by a severe deficiency of CBS enzyme, patients often have atherosclerosis in early years, Moreover, it affects the large, medium and small arteries of the whole body, and the lesions are diffuse and serious, and many of them die earlier.

Cause

Causes:

The causes of methionine metabolism disorders are genetic and environmental nutrition.

Genetic factors cause a deficiency or decrease in activity of three key enzymes, methotrexate reductase (MTHFR), cystathionine condensation enzyme (CBS), methionine synthase (MS). Congenital cystathionine condensate deficiency or homozygous cystineuria is a serious deficiency of CBS enzyme. Patients often develop atherosclerosis in early years, and affect the large, medium and small arteries of the whole body. The lesions are diffuse and serious. Early death. At present, more studies are mainly mild to moderate hyperhomocysteinemia, and it is found that the gene encoding MTHFR, CBS, MS enzyme has a base mutation or insertion or deletion, which causes the corresponding enzyme deficiency or activity to decrease.

Environmental nutrient factors refer to the lack of metabolic cofactors such as folic acid, vitamin B6, and B12. These factors are essential factors in the homocysteine metabolic reaction, which can lead to the occurrence of hyperhomocysteinemia. Many studies have confirmed elevated plasma homocysteine and decreased serum folate, vitamin B6, and B12 levels in patients with coronary heart disease.

an examination

Related inspection

Cysteinuria screening for vitamin B12 vitamin B6 vitamin B6 (VitB6)

Therefore, clinical examination of patients with hyperhomocysteinemia:

First, physical examination

Taking a medical history gives us a first impression and revelation, and also guides us to a concept of the nature of the disease.

Second, laboratory inspection

Laboratory examinations must be summarized and analyzed based on objective data learned from medical history and physical examination, from which several diagnostic possibilities may be proposed, and further consideration should be given to those examinations to confirm the diagnosis.

Differential diagnosis

Differential diagnosis:

High testosteroneemia: in the follicular phase of the normal menstrual cycle, the serum testosterone concentration is 0.43 ng/ml on average, and the upper limit is 0.68 ng/ml, such as over 0.7 ng/ml (=2.44 nmol/L), ie hyperandrogenemia. Also known as high testosteroneemia. It is a common gynecological endocrine disease. More common are menstrual changes such as menstrual thinning, amenorrhea or dysfunctional uterine bleeding, no ovulation, infertility. Some have masculine changes, such as hairy, enlarged throat, and low pitch. Some obesity, hemorrhoids, breast dysplasia, poor uterine development, ovarian enlargement, a few cases of clitoris hypertrophy.

Hyperuricemia: also known as gout, is a group of diseases caused by dysbiosis, its clinical features are hyperuricemia and the resulting recurrent gouty acute arthritis, tophi Sedimentation, tomphitic chronic arthritis and joint deformities often involve the formation of chronic interstitial nephritis and uric acid kidney stones in the kidney. The disease can be divided into two major categories: primary and secondary. The cause of primary disease is mostly unclear due to a small number of enzyme defects. It is often accompanied by hyperlipidemia, obesity, diabetes, hypertension, arteriosclerosis and crown. Heart disease, etc., is a hereditary disease. Secondary people can be caused by a variety of causes such as kidney disease, blood diseases and drugs.

Hyperviscosity: (or hyperviscosity) is a clinical pathological synthesis characterized by elevated blood viscosity factors, increased blood viscosity, slow blood flow, and abnormal blood rheology parameters. disease. The elasticity of the blood vessel wall of the elderly is gradually weakened, and the lumen is gradually narrowed. Therefore, the cells tend to close together, causing an increase in blood viscosity, thereby slowing the blood flow rate and causing cardiovascular disease. At the same time, the blood of the elderly Increased viscosity is associated with increased levels of proteins (globulin, fibrin) and lipids (triglycerides, cholesterol) contained in plasma.

Hypercapnia: is a protective strategy that has been recognized and confirmed, that is, children with respiratory failure are allowed to have a certain degree of elevation of PaCO2 to avoid lung damage caused by high tidal volume and hyperventilation. This strategy has achieved good results in the treatment of certain lung diseases in adults, such as adult respiratory distress syndrome (ARDS), chronic airway obstruction, and mechanical ventilation in patients with bronchial asthma, significantly reducing air leaks, lung parenchymal damage, and offline difficulties. The occurrence of complications; in the hyaline membrane disease of premature infants, it significantly reduces the pressure of air injury and reduces the incidence of bronchopulmonary dysplasia (BPD).

Hyperammonemia: A disorder of urea synthesis leads to an increase in blood ammonia concentration when liver function is severely damaged. Increased blood ammonia, blood ammonia is usually 234.8 ~ 587mol / L (400 ~ 1000g / dl), the normal value is 27 ~ 82mol / L (46 ~ 139g / dl). When hyperammonemia is coma, blood ammonia can be as high as 352.2 to 1526.2 mol/L (600 to 2600 g/dl).

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