Clinical Characteristics Of Protein S Deficiency-Related Pulmonary Embolism And A Family Study

PART ? Clinical characteristics and prognosis of protein S deficiency-related pulmonary embolismObjectives:To investigate the clinical characteristics and prognosis of pulmonary embolism patients with protein S deficiency.Methods:1.The clinical data of 235 patients diagnosed with pulmonary thromboembolism(PTE)at the First Hospital of Jilin University from January 2016 to December 2018 were retrospectively analyzed.Among them,91 were in the normal protein S group and 144 were in the protein S deficiency group.2.Collect general clinical data such as age,sex,symptoms,and signs of the two groups of patients;collect the risk factors such as age,smoking,history of cancers,deep venous thrombosis(DVT),and pregnancy in the two groups;collect the levels of Troponin I(TnI),BNP,D-dimer,blood cells and other related laboratory indicators of the two groups of patients;collect the electrocardiogram(ECG),echocardiography,CT pulmonary angiography(CTPA)and other related imaging indicators of the two groups;collect treatment methods,clinical adverse events and prognosis evaluation of the two groups;analyze all of the data.3.SPSS 23.0 software was used for statistical analysis,and t-test,nonparametric test,or chi-square test was used for comparison between groups according to the characteristics of the data.The difference was statistically significant with P<0.05.Result:1.This study included a total of 235 patients diagnosed with PTE at the First Hospital of Jilin University from January 2016 to December 2018.Among them,91were in the normal protein S group and 144 were in the protein S deficiency group.There was no significant difference in gender and age between the two groups.2.The most common clinical symptoms of patients with PTE in the two groups were dyspnea and chest pain,followed by palpitations,syncope,and hemoptysis,with no statistical difference.Increased heart rate was more common in the protein S deficiency group than in the normal protein S group(P<0.05).The most common risk factors in both groups were age and DVT,while the cancer and pregnancy were fewer(both less than 5%);the protein S deficiency group had a higher atrial fibrillation(AF)rate than the normal protein S group(P<0.05),there was no statistical difference in other risk factors.3.Compared with the normal protein S group,the white blood cells level of the protein S deficiency group was higher(P<0.05),and the level of aspartate aminotransferase(AST)was higher(P<0.05).D-dimer in both groups was significantly increased,but there was no significant difference between the two groups.In ECG changes,the incidence of tachycardia,S_?Q_?T_?,Tv1-v3 was higher in the two groups,and the incidence of ST segment depression and complete right bundle branch block/incomplete right bundle branch block was lower.The incidence of tachycardia and ST-segment depression in the protein S deficiency group was higher,with statistical differences(P<0.05).There were no significant differences in echocardiography and CTPA.4.Both groups of patients can achieve a higher anticoagulation rate.The incidence of thrombolysis in the protein S deficiency group is higher than that in the protein S normal group(P<0.05).The incidence of adverse events including thrombolysis and mechanical ventilation was higher in the protein S deficiency group,and there were more patients at medium and high risk(P<0.05).There was no significant difference in the PESI and sPESI scores between the two groups(P>0.05).Conclusion:1.Pulmonary embolism patients with reduced protein S activity have a higher rate of atrial fibrillation.2.PTE patients with reduced protein S activity have more obvious inflammation.3.PTE patients with reduced protein S activity were more in medium and high risk,and with higher incidence of clinical adverse events,which means a more serious disease and worse prognosis.PART ? A Family Study of Hereditary Protein S DeficiencyObjective:To investigate the clinical characteristics and gene mutation of a hereditary protein S deficiency family,and analyze the relationship between genotype and phenotype.Methods:A total of 17 proband and her families diagnosed with hereditary protein S deficiency in the First Hospital of Jilin University were enrolled in this study.Blood samples and clinical data of them were collected,and all mutations were identified by Sanger sequencing.Results:1.Sequencing revealed a mutation in the c.200A>C gene in the second exon of the PROS1 gene of proband and her families,and the mutation type was autosomal dominant.This mutation caused the amino acid at position 67 to mutate from acidic glutamic acid to smaller and hydrophobic alanine,which may cause it unable of carboxylation to complete the next protein modification,which leads to protein S deficiency.2.4 out of 17 family members of 3 generations were clinically diagnosed with hereditary protein S deficiency.The proband showed recurrent pulmonary embolism and venous thromboembolism of the lower extremities,and her ancle and her mother had a history of venous thromboembolism.Other members didn't have a history of venous thromboembolism or pulmonary embolism.Conclusion:A gene mutation cDNA(c.200A>T)was identified in a hereditary protein S deficiency family.This gene mutation may cause patients with reduced protein S activity,which may cause recurrent pulmonary embolism and venous thromboembolism.