Introduction
This article reports a case A case of esophageal variceal bleeding caused by hereditary thrombophilia.
Case data
Female patient , 40 years old, complained of hematemesis and melena for 1 week. Previous history of recurrent thrombosis in rare sites (portal vein, superior mesenteric vein, and splenic vein) and repeated adverse pregnancy (miscarriage, fetal death). Gastric endoscopy showed moderate-to-severe esophageal varices (Fig. 1); enhanced CT scan showed the formation of collateral circulation between the portal vein and the systemic circulation (Fig. 2) ); it is worth noting that after the patient received intravenous infusion therapy, ultrasonography confirmed bilateral cephalic vein and right esophageal vein thrombosis ( Figure 3).
Figure 1
Thrombophiliareferstoapathologicalstatepronetothrombosisandthromboembolismduetovarioushereditaryoracquiredfactors.Themainclinicalmanifestationsofthrombophiliaarevenousthromboembolism(VTE):suchasdeepveinthrombosis,pulmonaryembolism,intracranialveinthrombosis,portalveinthrombosis,andmesentericveinthrombosis.
Thrombophiliacanbedividedintohereditaryandacquired.Apairedstudyofpedigreesandtwinsshowedthatabout60%oftheindividualdifferencesinsusceptibilitytoVTEwereduetogeneticfactors.
HereditarythrombophiliacommonwithphysiologicalanticoagulantproteinssuchasAntithrombin(AT),proteinC(PC),proteinS(PS)andothergenemutationsleadtothelossofproteinanticoagulantfunction,orprocoagulantproteinssuchascoagulationfactorVLeidenmutation,prothrombinG20210Agenemutation,etc.Thisleadstotheenhancementofproteinprocoagulantfunction,whicheventuallyleadstothromboembolism.
AcquiredthrombophiliamainlyoccursinPatientswithvariousacquireddiseasesorwithacquiredriskfactorshaveanincreasedthromboembolictendencyduetoelevatedprocoagulantproteinlevels,decreasedanticoagulantproteinlevels,andalteredinflammatory/autoimmunemechanisms.Thereisaninteractionbetweenhereditaryandacquiredthrombophilicfactors,Thromboembolicdiseaseismorelikelytooccurwhenbothexistatthesametime.
Thereiscurrentlynocureforhereditarythrombophilia.Thetreatmentismainlyaimedatanti-thrombosis.Inadditiontoantithrombotictherapy,theprimarydiseaseshouldbeactivelytreatedforacquiredthrombophilia,andthepredisposingfactorsshouldbeeliminatedandcorrected.
References:
1. Yu S, Pan L, Ma J, Cao H. The Underlying Cause of Esophageal Variceal Bleeding: Hereditary Thrombophilia. Am J Gastroenterol. 2022 Feb 1;117(2):217.
2. The Thrombosis and Hemostasis Group of the Chinese Society of Hematology. Chinese Guidelines for the Diagnosis and Prevention of Thrombosis (2021 Edition) [J] . Zhonghua Hematology Magazine, 2021, 42(11) : 881-888.