Abstract 1122‐000005: Plasminogen Activator Inhibitor‐1 5G/5G Polymorphism – Do We Know All About It?
Introduction: The etiology of ischemic stroke is heterogeneous, and it has been proposed that different stroke subtypes might have different genetic architecture 1,2. The plasminogen activator inhibitor‐1 (PAI‐1) has been of particular interest due to its role in thrombotic diseases. Several polymor...
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2021-11-01
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| Series: | Stroke: Vascular and Interventional Neurology |
| Subjects: | |
| Online Access: | https://www.ahajournals.org/doi/10.1161/SVIN.01.suppl_1.000005 |
| _version_ | 1797948378868350976 |
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| author | Nurose Karim Mark Johnson |
| author_facet | Nurose Karim Mark Johnson |
| author_sort | Nurose Karim |
| collection | DOAJ |
| description | Introduction: The etiology of ischemic stroke is heterogeneous, and it has been proposed that different stroke subtypes might have different genetic architecture 1,2. The plasminogen activator inhibitor‐1 (PAI‐1) has been of particular interest due to its role in thrombotic diseases. Several polymorphisms have been found for this gene, with some having protective effect while others increase the risk of ischemic and hemorrhagic strokes 3,4. The protective role appears to be due to the role of PAI‐1 in fibrinolytic cascade and that PAI‐1 also inhibit plasmin‐dependent metalloproteinases activation. We hereby, present a case of ischemic stroke in young adult and its association with our gene of interest. Methods: Case: We present a case of 43‐year‐old woman with past medical history significant for Acetylcholine Receptor (AChR) antibody positive Myasthenia Gravis diagnosed in 1993 status post thymectomy (1994), currently on prednisone and intravenous immunoglobulin every two weeks (failed cyclosporine and mycophenolate mofetil). She had two events in 2018 where she reported episodic right sided numbness and weakness that lasted for few hours. Stroke workup was done, and she was found to have focal moderate to severe stenosis of the left middle cerebral artery (MCA) on CT angiography (figure 1) with very subtle left hypoperfusion in the MCA on the brain single‐photon emission computerized tomography scan. She underwent catheter angiogram (figure 1) showing severe stenosis involving the mid and distal M1 segment of the left MCA and nondominant proximal A1 segment left anterior cerebral artery (ACA). There were robust leptomeningeal collaterals from the left anterior and left posterior cerebral arteries. She also reported history of two miscarriages in the first trimester. Hypercoagulable workup was done and all of those were negative including: SLE profile, Lupus anticoagulant, ANA comprehensive panel, Cryoglobulin, Anticardiolipin antibody, Antithrombin III, Antithrombin antigen, protein C, protein S, Factor VIII activity, Factor V Leiden. She also had rheumatoid arthritis factor, Homocysteine, sedimentation rate, and C‐reactive protein done which were unremarkable. Genetic workup showed that she is PAI‐1 5G/5G homozygous. She has been stable since 2018 without new focal neurological events and is on Aspirin monotherapy and Statin. Results: The genetics for stroke disease are very complicated and yet to be discovered fully. The association between PA‐1 5G/5G and intracranial stenosis has not been reported previously. New genetic associations will need to be increasingly considered as we assess our cerebrovascular diseases and stroke patients Conclusions: • With the current knowledge, ischemic stroke have polygenic basis but no single common “stroke gene” has been identified yet. • Here we present a case suggesting that PAI‐1 5G/5G genotype is may be associated with an independent risk of intracranial atherosclerosis. |
| first_indexed | 2024-04-10T21:42:23Z |
| format | Article |
| id | doaj.art-50217b2a260444d680515f21674b657d |
| institution | Directory Open Access Journal |
| issn | 2694-5746 |
| language | English |
| last_indexed | 2024-04-10T21:42:23Z |
| publishDate | 2021-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Stroke: Vascular and Interventional Neurology |
| spelling | doaj.art-50217b2a260444d680515f21674b657d2023-01-18T21:39:24ZengWileyStroke: Vascular and Interventional Neurology2694-57462021-11-011S110.1161/SVIN.01.suppl_1.000005Abstract 1122‐000005: Plasminogen Activator Inhibitor‐1 5G/5G Polymorphism – Do We Know All About It?Nurose Karim0Mark Johnson1University of Texas Southwestern Medical Center, Dallas Texas United States of AmericaUniversity of Texas Southwestern Medical Center, Dallas Texas United States of AmericaIntroduction: The etiology of ischemic stroke is heterogeneous, and it has been proposed that different stroke subtypes might have different genetic architecture 1,2. The plasminogen activator inhibitor‐1 (PAI‐1) has been of particular interest due to its role in thrombotic diseases. Several polymorphisms have been found for this gene, with some having protective effect while others increase the risk of ischemic and hemorrhagic strokes 3,4. The protective role appears to be due to the role of PAI‐1 in fibrinolytic cascade and that PAI‐1 also inhibit plasmin‐dependent metalloproteinases activation. We hereby, present a case of ischemic stroke in young adult and its association with our gene of interest. Methods: Case: We present a case of 43‐year‐old woman with past medical history significant for Acetylcholine Receptor (AChR) antibody positive Myasthenia Gravis diagnosed in 1993 status post thymectomy (1994), currently on prednisone and intravenous immunoglobulin every two weeks (failed cyclosporine and mycophenolate mofetil). She had two events in 2018 where she reported episodic right sided numbness and weakness that lasted for few hours. Stroke workup was done, and she was found to have focal moderate to severe stenosis of the left middle cerebral artery (MCA) on CT angiography (figure 1) with very subtle left hypoperfusion in the MCA on the brain single‐photon emission computerized tomography scan. She underwent catheter angiogram (figure 1) showing severe stenosis involving the mid and distal M1 segment of the left MCA and nondominant proximal A1 segment left anterior cerebral artery (ACA). There were robust leptomeningeal collaterals from the left anterior and left posterior cerebral arteries. She also reported history of two miscarriages in the first trimester. Hypercoagulable workup was done and all of those were negative including: SLE profile, Lupus anticoagulant, ANA comprehensive panel, Cryoglobulin, Anticardiolipin antibody, Antithrombin III, Antithrombin antigen, protein C, protein S, Factor VIII activity, Factor V Leiden. She also had rheumatoid arthritis factor, Homocysteine, sedimentation rate, and C‐reactive protein done which were unremarkable. Genetic workup showed that she is PAI‐1 5G/5G homozygous. She has been stable since 2018 without new focal neurological events and is on Aspirin monotherapy and Statin. Results: The genetics for stroke disease are very complicated and yet to be discovered fully. The association between PA‐1 5G/5G and intracranial stenosis has not been reported previously. New genetic associations will need to be increasingly considered as we assess our cerebrovascular diseases and stroke patients Conclusions: • With the current knowledge, ischemic stroke have polygenic basis but no single common “stroke gene” has been identified yet. • Here we present a case suggesting that PAI‐1 5G/5G genotype is may be associated with an independent risk of intracranial atherosclerosis.https://www.ahajournals.org/doi/10.1161/SVIN.01.suppl_1.000005Acute StrokeImagingPathophysiologyTreatment |
| spellingShingle | Nurose Karim Mark Johnson Abstract 1122‐000005: Plasminogen Activator Inhibitor‐1 5G/5G Polymorphism – Do We Know All About It? Stroke: Vascular and Interventional Neurology Acute Stroke Imaging Pathophysiology Treatment |
| title | Abstract 1122‐000005: Plasminogen Activator Inhibitor‐1 5G/5G Polymorphism – Do We Know All About It? |
| title_full | Abstract 1122‐000005: Plasminogen Activator Inhibitor‐1 5G/5G Polymorphism – Do We Know All About It? |
| title_fullStr | Abstract 1122‐000005: Plasminogen Activator Inhibitor‐1 5G/5G Polymorphism – Do We Know All About It? |
| title_full_unstemmed | Abstract 1122‐000005: Plasminogen Activator Inhibitor‐1 5G/5G Polymorphism – Do We Know All About It? |
| title_short | Abstract 1122‐000005: Plasminogen Activator Inhibitor‐1 5G/5G Polymorphism – Do We Know All About It? |
| title_sort | abstract 1122 000005 plasminogen activator inhibitor 1 5g 5g polymorphism do we know all about it |
| topic | Acute Stroke Imaging Pathophysiology Treatment |
| url | https://www.ahajournals.org/doi/10.1161/SVIN.01.suppl_1.000005 |
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