Testing for Thrombophilia in Young Cryptogenic Stroke Patients: Does the Presence of Patent Foramen Ovale Make a Difference?

<i>Background and Objectives</i>: The diagnostic value of thrombophilia remains unknown in young patients with patent foramen ovale (PFO) and stroke. In this study we hypothesized that inherited thrombophilias that lead to venous thrombosis are more prevalent in patients with PFO. <i&...

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Main Authors: Mantas Jokubaitis, Rūta Mineikytė, Lina Kryžauskaitė, Lina Gumbienė, Lina Kaplerienė, Saulius Andruškevičius, Kristina Ryliškienė
Format: Article
Language:English
Published: MDPI AG 2022-08-01
Series:Medicina
Subjects:
Online Access:https://www.mdpi.com/1648-9144/58/8/1056
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author Mantas Jokubaitis
Rūta Mineikytė
Lina Kryžauskaitė
Lina Gumbienė
Lina Kaplerienė
Saulius Andruškevičius
Kristina Ryliškienė
author_facet Mantas Jokubaitis
Rūta Mineikytė
Lina Kryžauskaitė
Lina Gumbienė
Lina Kaplerienė
Saulius Andruškevičius
Kristina Ryliškienė
author_sort Mantas Jokubaitis
collection DOAJ
description <i>Background and Objectives</i>: The diagnostic value of thrombophilia remains unknown in young patients with patent foramen ovale (PFO) and stroke. In this study we hypothesized that inherited thrombophilias that lead to venous thrombosis are more prevalent in patients with PFO. <i>Materials and Methods</i>: The study included patients of the tertiary center Vilnius University Hospital Santaros Klinikos who had a cryptogenic ischemic stroke between the ages of 18 and 50 between the years 2008 and 2021. Transient ischemic attacks were excluded. Contrast-enhanced transcranial Doppler ultrasound and extensive laboratory testing were performed. <i>Results</i>: The study included 161 cryptogenic stroke patients (mean age 39.2 ± 7.6 years; 54% female), and a right-to-left shunt was found in 112 (69.6%). The mean time between stroke and thrombophilia testing was 210 days (median 98 days). In total, 61 (39.8%) patients were diagnosed with thrombophilia. The most common finding was hyperhomocysteinemia (26.7%), 14.3% of which were genetically confirmed. Two patients (1.2%) were diagnosed with factor V Leiden mutation, three patients (1.9%) with prothrombin G20210A mutation, one patient (0.6%) had a protein C mutation and one patient (0.6%) had a protein S mutation. No antithrombin mutations were diagnosed in our study population. A total of 45.5% of patients with inherited thrombophilia had a right-to-left shunt, while 54.5% did not, <i>p =</i> 0.092. Personal thrombosis anamnesis was positive significantly more often in patients with antiphospholipid syndrome. <i>Conclusions</i>: The hypothesis of the study was rejected since inherited venous thrombophilia was not significantly more common in patients with PFO. Due to the rarity of thrombophilias in general, more research with a larger sample size is required to further verify our findings.
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spelling doaj.art-7357c86547b84d449eab2266266332712023-12-03T14:04:45ZengMDPI AGMedicina1010-660X1648-91442022-08-01588105610.3390/medicina58081056Testing for Thrombophilia in Young Cryptogenic Stroke Patients: Does the Presence of Patent Foramen Ovale Make a Difference?Mantas Jokubaitis0Rūta Mineikytė1Lina Kryžauskaitė2Lina Gumbienė3Lina Kaplerienė4Saulius Andruškevičius5Kristina Ryliškienė6Centre of Neurology, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, LithuaniaCentre of Neurology, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, LithuaniaHematology, Oncology and Transfusion Medicine Center, Vilnius University Hospital Santaros Klinikos, LT-08661 Vilnius, LithuaniaClinic of Cardiovascular Diseases, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, LithuaniaClinic of Cardiovascular Diseases, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, LithuaniaCenter of Neurology, Center of Anesthesiology, Intensive Care and Pain Management, Vilnius University Hospital Santaros Klinikos, LT-08661 Vilnius, LithuaniaCentre of Neurology, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, LT-08661 Vilnius, Lithuania<i>Background and Objectives</i>: The diagnostic value of thrombophilia remains unknown in young patients with patent foramen ovale (PFO) and stroke. In this study we hypothesized that inherited thrombophilias that lead to venous thrombosis are more prevalent in patients with PFO. <i>Materials and Methods</i>: The study included patients of the tertiary center Vilnius University Hospital Santaros Klinikos who had a cryptogenic ischemic stroke between the ages of 18 and 50 between the years 2008 and 2021. Transient ischemic attacks were excluded. Contrast-enhanced transcranial Doppler ultrasound and extensive laboratory testing were performed. <i>Results</i>: The study included 161 cryptogenic stroke patients (mean age 39.2 ± 7.6 years; 54% female), and a right-to-left shunt was found in 112 (69.6%). The mean time between stroke and thrombophilia testing was 210 days (median 98 days). In total, 61 (39.8%) patients were diagnosed with thrombophilia. The most common finding was hyperhomocysteinemia (26.7%), 14.3% of which were genetically confirmed. Two patients (1.2%) were diagnosed with factor V Leiden mutation, three patients (1.9%) with prothrombin G20210A mutation, one patient (0.6%) had a protein C mutation and one patient (0.6%) had a protein S mutation. No antithrombin mutations were diagnosed in our study population. A total of 45.5% of patients with inherited thrombophilia had a right-to-left shunt, while 54.5% did not, <i>p =</i> 0.092. Personal thrombosis anamnesis was positive significantly more often in patients with antiphospholipid syndrome. <i>Conclusions</i>: The hypothesis of the study was rejected since inherited venous thrombophilia was not significantly more common in patients with PFO. Due to the rarity of thrombophilias in general, more research with a larger sample size is required to further verify our findings.https://www.mdpi.com/1648-9144/58/8/1056strokepatent foramen ovalethrombophiliaantiphospholipid syndromeleiden mutationprothrombin mutation
spellingShingle Mantas Jokubaitis
Rūta Mineikytė
Lina Kryžauskaitė
Lina Gumbienė
Lina Kaplerienė
Saulius Andruškevičius
Kristina Ryliškienė
Testing for Thrombophilia in Young Cryptogenic Stroke Patients: Does the Presence of Patent Foramen Ovale Make a Difference?
Medicina
stroke
patent foramen ovale
thrombophilia
antiphospholipid syndrome
leiden mutation
prothrombin mutation
title Testing for Thrombophilia in Young Cryptogenic Stroke Patients: Does the Presence of Patent Foramen Ovale Make a Difference?
title_full Testing for Thrombophilia in Young Cryptogenic Stroke Patients: Does the Presence of Patent Foramen Ovale Make a Difference?
title_fullStr Testing for Thrombophilia in Young Cryptogenic Stroke Patients: Does the Presence of Patent Foramen Ovale Make a Difference?
title_full_unstemmed Testing for Thrombophilia in Young Cryptogenic Stroke Patients: Does the Presence of Patent Foramen Ovale Make a Difference?
title_short Testing for Thrombophilia in Young Cryptogenic Stroke Patients: Does the Presence of Patent Foramen Ovale Make a Difference?
title_sort testing for thrombophilia in young cryptogenic stroke patients does the presence of patent foramen ovale make a difference
topic stroke
patent foramen ovale
thrombophilia
antiphospholipid syndrome
leiden mutation
prothrombin mutation
url https://www.mdpi.com/1648-9144/58/8/1056
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