Thrombophilia diagnosis

Spychalska-Zwolińska, Marta; Zwoliński, Tomasz; Mieczkowski, Artur; Budzyński, Jacek

doi:10.1097/mbc.0000000000000332

Cited by 4 publications

(5 citation statements)

References 21 publications

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“…Factores que intervienen en la concentración plasmática de FVIII congénita o adquirida llamada estado hipercoagulable o trombofilia, lo que los predispone a la aparición de trombosis. 1 Se ha documentado en la literatura los términos "trombofilia" y "estados hipercoagulables", aunque pueden usarse como sinónimos, existe una distinción entre ellos, dados por una patogénesis diferente de ambos y por lo tanto, necesitan un tratamiento diferente. 2 La trombofilia es un defecto de coagulación, ya sea hereditario o adquirido, se conoce que conduce a una mayor predisposición a trombosis, aunque es multifactorial (congénitos, adquiridas o mixtas (resultantes de una combinación de factores genéticos y ambientales), de todos estos los defectos más comunes son causados por mutaciones genéticas en genes que codifican para los factores V y II.…”

Section: I S C U S I ó Nunclassified

“…2 La trombofilia es un defecto de coagulación, ya sea hereditario o adquirido, se conoce que conduce a una mayor predisposición a trombosis, aunque es multifactorial (congénitos, adquiridas o mixtas (resultantes de una combinación de factores genéticos y ambientales), de todos estos los defectos más comunes son causados por mutaciones genéticas en genes que codifican para los factores V y II. 1 La deficiencia de proteína C es un tipo de trombofilia que podría ser un factor de riesgo para TVP, otros que se reportan: deficiencia antitrombina, déficit de proteína S, mutación del factor V de leiden, mutación del factor II G20210. 3 Los niveles plasmáticos elevados de factores de coagulación se han asociado con un mayor riesgo de TVP.…”

Section: I S C U S I ó Nunclassified

“…Sin embargo de todos estos, los defectos más comunes son causados por mutaciones genéticas, dados por los genes de los factores V y II. 1 La deficiencia de proteína C es un tipo de trombofilia que podría ser un factor de riesgo para TVP, otros que se reportan: deficiencia antitrombina, déficit de proteína S, mutación del factor V de leiden, mutación del factor II G20210. 2 Es así como los niveles plasmáticos elevados de factores de coagulación se han asociado con un mayor riesgo de TVP.…”

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Sobreexpresión del factor VIII, riesgo de trombosis y tratamiento

Romero Rojas,

Prieto Soler

2024

Repert. Med. Cir.

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Introducción: la trombosis venosa profunda (TVP) es una enfermedad multifactorial, la cual se ha relacionado con estados de hipercoagulabilidad, alteraciones del flujo sanguíneo y lesiones vasculares endoteliales. Se ha estimado una tasa de incidencia de 1 a 2 casos por mil habitantes año, y casi 2 millones de nuevos casos anuales en Estados Unidos. Existen factores de riesgo establecidos y las trombofilias parecen ocupar un lugar importante en su etiología y los estados de hipercoagulabilidad secundarios a niveles elevados de factor de coagulación VIII asociado a disfunción endotelial, y al incremento de adhesión plaquetaria confieren también una gran predisposición a la aparición de trombosis. Presentación del caso: paciente de 24 años de edad, sin antecedentes de importancia. Consulta por una masa indurada en región axilar derecha, que resultó ser TVP de la vena yugular externa, confluente yugulosubclavio, vena supraclavicular axilar y humeral con alto riesgo de embolización; a su vez se documentó tromboembolia pulmonar y se sospechó trombosis cerebral. La búsqueda de estados procoagulantes no arrojó ningún resultado, posteriormente se mide Factor VIII con sobreexpresión de 223% del valor normal y tras una revisión literaria del tratamiento documentada en el presente artículo se determina que el tratamiento más adecuado es warfarina.

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Sobreexpresión del factor VIII, riesgo de trombosis y tratamiento

Romero Rojas,

Prieto Soler

2024

Repert. Med. Cir.

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“…It is estimated that up to 50% of patients with DVT may have diagnosable thrombophilia, or other hypercoagulable condition of either congenital or acquired etiology; often factor V Leiden or prothrombin G20210A [13,14]. Normally, factor V is involved in the conversion of prothrombin to thrombin, and when mutated, protein C is unable to inhibit factor V, therefore resulting in hypercoagulability [15].…”

Section: Pathophysiologymentioning

confidence: 99%

“What IVC?”: Deep Vein Thrombosis in the Context of IVC Dysgenesis

et al. 2023

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Among young, otherwise healthy adults with unprovoked deep vein thrombosis (DVT), uncommon causes like variation in the normal sequential development of the inferior vena cava (IVC), must be explored. Anomalous IVC conditions are estimated to occur in up to 9% of the general population, with the rarest anomaly being IVC agenesis at 0.0005% - 1% general population prevalence. DVTs are more likely to develop in this population due to venous stasis from decreased venous return, even with the formation of extensive collateral veins. Herein, the authorial team presents a 22-year-old patient with leg pain and swelling who was found to have acute DVT, and, incidentally, the absence of the suprarenal IVC with a robust collateral system on further imaging studies. The morbidity of DVTs in this population is very high, and attention should be given to young patients who present with new-onset DVT in the setting of normal coagulation studies and lack of personal or family history of clotting disorders, as the need for specialized imaging such as venograms is necessary to secure the proper diagnosis.

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“…Heparin is given intravenously because it is not absorbed through the gut, while warfarin is given orally. 3 4 5…”

Section: Introductionmentioning

confidence: 99%

An Assessment of the Effectiveness of Warfarin Therapy Monitoring Systems on Thrombophilic Patients in Zimbabwe

Maramba

Ncube

Mandisodza

et al. 2018

TH Open

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Introduction Thrombophilia describes conditions that predispose individuals to increased blood clotting and includes conditions such as deep vein thrombosis and pulmonary embolism. Thrombophilia is associated with high morbidity and mortality rates, and is commonly treated by warfarin anticoagulation. However, warfarin may cause both bleeding and clotting episodes if the therapy is not monitored and managed effectively. Objectives The main objective of this study was to assess the effectiveness of warfarin monitoring systems on thrombophilic patients at a major hospital in Zimbabwe. Material and Methods A clinical and laboratory prospective and retrospective study was performed on patients who had been on warfarin therapy for at least 1 year. Questionnaires were administered to participants on warfarin from outpatients clinics at Parirenyatwa Group of Hospitals. Their international normalized ratio (INR) results were also accessed from the laboratory information system and captured in the Epi info and Microsoft Excel for analysis. Results Fifty questionnaires were administered and 47 (94%) participants responded adequately. Twenty-nine (61.1%) participants on warfarin were females. The majority of them were elderly and in the 31 to 40 age groups. Eighteen (38.3%) participants missed their medication at some point, while 12 (25.5%) had warfarin overdose. Sixteen (34%) and 11 (23.4%) admitted to taking alcohol and smoking, respectively, while on warfarin. Thirty-five (74.5%) did not change their medication nor were advised on the right diet. Thirty-four (72.3%) had appointments set after every month. Some participants indicated that they had symptoms of both clotting and bleeding. There were statistically significant differences (p < 0.0001) between INRs for 3 monthly intervals from the initiation of warfarin therapy. Conclusion Women and the elderly formed the majority of the patients on warfarin, indicating gender and advanced age susceptibility to thrombophilia, respectively. The effectiveness of the warfarin monitoring systems appeared to be hampered by lack of a coordinated system that adequately monitors anticoagulant therapy in the country.

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Thrombophilia diagnosis

Cited by 4 publications

References 21 publications

Sobreexpresión del factor VIII, riesgo de trombosis y tratamiento

Sobreexpresión del factor VIII, riesgo de trombosis y tratamiento

“What IVC?”: Deep Vein Thrombosis in the Context of IVC Dysgenesis

An Assessment of the Effectiveness of Warfarin Therapy Monitoring Systems on Thrombophilic Patients in Zimbabwe

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