BACKGROUND Antiphospholipid syndrome(APS)is a chronic autoimmune disease characterized by venous or arterial thrombosis,pregnancy morbidity and a variety of other autoimmune and inflammatory complications.Here,we repo...BACKGROUND Antiphospholipid syndrome(APS)is a chronic autoimmune disease characterized by venous or arterial thrombosis,pregnancy morbidity and a variety of other autoimmune and inflammatory complications.Here,we report a case of APS associated with multiple coronary thromboses.CASE SUMMARY The patient,a 28-year-old male,suffered from recurrent coronary thromboses over a period of 31 months.Despite undergoing interventional coronary procedures,thrombolytic therapy,and anticoagulation treatment,the condition persisted intermittently.An extensive search for underlying thrombogenic factors revealed a diagnosis of APS.Accurate adjustment of the medication regimen led to the absence of further acute coronary syndrome(ACS)episodes during the subsequent 20-month follow-up.Although the patient occasionally experiences chest tightness,no further symptoms of distress have been reported.CONCLUSION APS can manifest as ACS.Screening for rheumatologic and immunological conditions is essential when encountering patients with multiple coronary thromboses.Treatment strategy should include symptomatic relief and a targeted and aggressive approach to address the underlying pathophysiology.展开更多
This study aimed to explore the mechanism of a novel mutation （p.Lys38Glu） in apolipoprotein H （APOH） gene causing hereditary beta2-glycoprotein I （β2GPI） deficiency and thrombosis in a proband with thrombophil...This study aimed to explore the mechanism of a novel mutation （p.Lys38Glu） in apolipoprotein H （APOH） gene causing hereditary beta2-glycoprotein I （β2GPI） deficiency and thrombosis in a proband with thrombophilia. The plasma level of β2GPI was measured by ELISA and Western blotting, and anti-β2GPI antibody by ELISA. Lupus anticoagulant （LA） was assayed using the dilute Russell viper venom time. Deficiency of the major natural anticoagulants including protein C （PC）, protein S （PS）, antithrombin （AT） and thrombomodulin （TM） was excluded from the proband. A mutation analysis was performed by amplification and sequencing of the APOH gene. Wild type and mutant （c.112A〉G） APOH expression plasmids were constructed and transfected into HEK293T cells. The results showed that the thrornbin generation capacity of the proband was higher than that of the other family members. Missense mutation p.Lys38Glu in APOH gene and LA coexisted in the proband. The mutation led to β2GPI deficiency and thrombosis by impairing the protein production and inhibiting the platelet aggregation. It was concluded that the recurrent thrombosis of the proband is associated with the coexistence ofp.Lys38Glu mutation in APOH gene and LA in plasma.展开更多
Antiphospholipid syndrome(APS)or Hughes syndrome is an acquired thromboinflammatory disorder.Clinical criteria of APS diagnosis are large-and small-vessel thrombosis as well as obstetric problems;laboratory criteria a...Antiphospholipid syndrome(APS)or Hughes syndrome is an acquired thromboinflammatory disorder.Clinical criteria of APS diagnosis are large-and small-vessel thrombosis as well as obstetric problems;laboratory criteria are the presence of antiphospholipid antibodies(lupus anticoagulant,anticardiolipin antibodies and anti-β2-glycoprotein-1).The presence of at least 1 clinical and 1 laboratory criterion allows definitive diagnosis of APS.Primary APS is diagnosed in patients without features of connective tissue disease;secondary APS is diagnosed in patients with clinical signs of autoimmune disease.A high frequency of catastrophic APS as well as a high tendency to evolve from primary APS to secondary syndrome during the course of lupus and lupus-like disease is a feature of pediatric APS.The most characteristic clinical presentation of APS in the pediatric population is venous thrombosis,mainly in the lower limbs,and arterial thrombosis causing ischemic brain stroke.Currently,no diagnostic criteria for pediatric APS exist,which probably results in an underestimation of the problem.Similarly,no therapeutic procedures for APS specific for children have yet been established.In the present literature review,we discussed data concerning APS in children and its role in cerebrovascular diseases,including pediatric arterial ischemic stroke,migraine and cerebral venous thrombosis.展开更多
文摘BACKGROUND Antiphospholipid syndrome(APS)is a chronic autoimmune disease characterized by venous or arterial thrombosis,pregnancy morbidity and a variety of other autoimmune and inflammatory complications.Here,we report a case of APS associated with multiple coronary thromboses.CASE SUMMARY The patient,a 28-year-old male,suffered from recurrent coronary thromboses over a period of 31 months.Despite undergoing interventional coronary procedures,thrombolytic therapy,and anticoagulation treatment,the condition persisted intermittently.An extensive search for underlying thrombogenic factors revealed a diagnosis of APS.Accurate adjustment of the medication regimen led to the absence of further acute coronary syndrome(ACS)episodes during the subsequent 20-month follow-up.Although the patient occasionally experiences chest tightness,no further symptoms of distress have been reported.CONCLUSION APS can manifest as ACS.Screening for rheumatologic and immunological conditions is essential when encountering patients with multiple coronary thromboses.Treatment strategy should include symptomatic relief and a targeted and aggressive approach to address the underlying pathophysiology.
文摘This study aimed to explore the mechanism of a novel mutation （p.Lys38Glu） in apolipoprotein H （APOH） gene causing hereditary beta2-glycoprotein I （β2GPI） deficiency and thrombosis in a proband with thrombophilia. The plasma level of β2GPI was measured by ELISA and Western blotting, and anti-β2GPI antibody by ELISA. Lupus anticoagulant （LA） was assayed using the dilute Russell viper venom time. Deficiency of the major natural anticoagulants including protein C （PC）, protein S （PS）, antithrombin （AT） and thrombomodulin （TM） was excluded from the proband. A mutation analysis was performed by amplification and sequencing of the APOH gene. Wild type and mutant （c.112A〉G） APOH expression plasmids were constructed and transfected into HEK293T cells. The results showed that the thrornbin generation capacity of the proband was higher than that of the other family members. Missense mutation p.Lys38Glu in APOH gene and LA coexisted in the proband. The mutation led to β2GPI deficiency and thrombosis by impairing the protein production and inhibiting the platelet aggregation. It was concluded that the recurrent thrombosis of the proband is associated with the coexistence ofp.Lys38Glu mutation in APOH gene and LA in plasma.
文摘Antiphospholipid syndrome(APS)or Hughes syndrome is an acquired thromboinflammatory disorder.Clinical criteria of APS diagnosis are large-and small-vessel thrombosis as well as obstetric problems;laboratory criteria are the presence of antiphospholipid antibodies(lupus anticoagulant,anticardiolipin antibodies and anti-β2-glycoprotein-1).The presence of at least 1 clinical and 1 laboratory criterion allows definitive diagnosis of APS.Primary APS is diagnosed in patients without features of connective tissue disease;secondary APS is diagnosed in patients with clinical signs of autoimmune disease.A high frequency of catastrophic APS as well as a high tendency to evolve from primary APS to secondary syndrome during the course of lupus and lupus-like disease is a feature of pediatric APS.The most characteristic clinical presentation of APS in the pediatric population is venous thrombosis,mainly in the lower limbs,and arterial thrombosis causing ischemic brain stroke.Currently,no diagnostic criteria for pediatric APS exist,which probably results in an underestimation of the problem.Similarly,no therapeutic procedures for APS specific for children have yet been established.In the present literature review,we discussed data concerning APS in children and its role in cerebrovascular diseases,including pediatric arterial ischemic stroke,migraine and cerebral venous thrombosis.
