hereditary protein C deficiency
Introduction
Introduction to hereditary protein C deficiency Hereditary protein Cdeficiency (HPCD) is an autosomal dominant thrombophilia, which is homozygous and heterozygous. The clinical manifestations are venous thrombosis. basic knowledge The proportion of illness: 0.0002% Susceptible people: no special people Mode of infection: non-infectious Complications: venous thrombosis
Cause
Causes of hereditary protein C deficiency
(1) Causes of the disease
Autosomal dominant inheritance, protein C anticoagulant activity and antigen content decreased.
(two) pathogenesis
The site of action of the protein C system is mainly in the microcirculation. When the blood stagnates and the thrombin enters the microcirculation delay, the venous thrombosis can be caused by inhibition of protein C activation and delayed thrombin clearance.
Prevention
Hereditary protein C deficiency prevention
Heterozygous type without blood test complications, patients generally do not need preventive treatment, in high-risk environmental factors, such as surgery, pregnancy can be given protein C concentrate, heparin prevention.
Complication
Hereditary protein C deficiency complications Complications, venous thrombosis
Adult patients can induce skin necrosis due to oral dicoumarin anticoagulants.
Symptom
Hereditary protein C deficiency symptoms Common symptoms Limb pain Limb swelling venous thrombosis
Common clinical manifestations of venous thrombosis, in the cause of venous thrombosis, genetic PC deficiency accounted for 2% to 8%, venous thrombosis mainly involving the lower extremity vein, less involving the visceral vein, often pulmonary thromboembolism, the disease is less Arterial thrombosis occurred (less than 20%).
Examine
Examination of hereditary protein C deficiency
1. Plasma protein C content is reduced or normal.
2. Plasma protein C activity is reduced.
According to the condition, clinical manifestations, symptoms, signs, blood, stool, urine routine, biochemical and B-ultrasound CT, X-ray examination.
Diagnosis
Diagnosis and identification of hereditary protein C deficiency
Diagnostic criteria
1. Diagnostic method: The diagnosis depends on the laboratory examination, mainly by detecting the activity and content of PC. The activity is currently measured by the commonly used APTT method and the chromogenic substrate method, and the content is determined by immunoelectrophoresis.
2. Diagnostic criteria and basis: There is no uniform standard in the literature at home and abroad. The standards formulated in the book "Diagnostic and Efficacy Standards for Blood Diseases" edited by Zhang Zhinan and others are as follows.
(1) Venous thrombosis or asymptomatic.
(2) Autosomal dominant or recessive inheritance.
(3) homozygous and heterozygous or double heterozygous.
(4) Plasma PC content decreased or normal.
(5) Plasma PC activity is decreased.
(6) The classification is shown in Table 1.
3. Diagnostic evaluation is similar to other hereditary anticoagulant protein deficiency. Most patients with hereditary PC deficiency do not have thrombosis. Therefore, the diagnosis of medical history and family history is relatively small. The diagnosis mainly needs laboratory examination. Therefore, the experimental method Must be reliable, do not advocate that each hospital has established a complete experimental method, should refer to the successful experience of foreign countries, establish a regional testing center, one or several experienced laboratories to undertake the testing tasks in the region, in addition, each All laboratories should establish their own normal values. It is not appropriate to copy the normal reference values published in the literature. Plasma PC activity or content should generally be measured at least twice to exclude detection errors and transient PC deficiency. In addition, PC belongs to vitamin K dependence. Sexual proteins, therefore, oral warfarin can affect the results of the assay.
Differential diagnosis
Mainly to exclude a variety of acquired PC deficiency, some drugs, such as warfarin, asparaginase, cisplatin, etc. can cause a decrease in PC levels, liver disease can lead to a lack of PC due to reduced synthesis, severe infection, DIC, Patients with long-term hemodialysis may also experience a decrease in PC levels.
Individual hereditary PC-deficient patients may be complicated with other hereditary thrombophilias, such as combined protein S defects or APC-R, unless otherwise noted.
