RESUMO
Both hereditary and acquired factors increase the risk of venous thromboembolism, thus the clinical management of affected patients involves evaluation of genetic factors that predispose to hypercoagulability. Factor V Leiden (R507Q) and factor II (prothrombin) mutation (G20210A) are the two most common inherited hypercoagulability disorders among populations of European origin. Both factor V Leiden and factor II mutation (G20210A) represent gain-of-function mutations: factor V Leiden causes resistance to activated protein C, and factor II mutation (G20210A) results in higher levels of plasma prothrombin. Herein, we present an uncommon case of combined factor V Leiden mutation (R507Q) and factor II mutation (G20210A), and discuss the prevalence and features of each entity, as well as their role in the clinical management of affected patients.
Assuntos
Fator V/genética , Mutação , Protrombina/genética , Trombose Venosa/genética , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
INTRODUCTION: Markers of systemic inflammation have been shown to be elevated in patients with gastroparesis (Gp). We hypothesized the presence of elevated markers of inflammation and/or coagulation can predict death in gastroparesis. METHODS: Retrospective evaluation of 396 patients with symptoms of gastroparesis with baseline measures of inflammation and coagulation, using a database of patients from 2001 through 2011 followed for an additional 5 plus years. Patients were divided into two groups; diabetic (DM; n=137) and non-diabetic (non-DM; n=259). Inflammation, evaluated by C-reactive protein (CRP), and coagulation by fibrinogen by factor VIII assays, was compared to patient mortality, reported as death during the follow-up period. RESULTS: Six DM and 13 non-DM patients died during the study period. DM patients had higher fibrinogen, CRP, and factor VIII levels of 454.0±135.2, 4.0±6.3, and 168±63.5, versus non-DM whose levels were 410.4±127.9, 2.6±4.9, 140.4±127.9, p=0.03, 0.001, and <0.001 respectively. Hypercoagulability risk differed by DM status (37% Vs. 29%, p=0.08). Compared to living non-DM, deceased non-DM/idiopathic patients had lower factor VIII (142.3±51.2 vs 117.7±40.3, p=0.07). The majority of deceased non-DM patients had abnormal fibrinogen (62%) but CRP and factor VIII were normal (80% and 85% respectively). CONCLUSIONS: In this sample of 396 patients with symptoms of gastroparesis, systemic inflammation and coagulopathy appear related to diabetes mellitus. Patients who died had markers of inflammation and coagulation that differed from those still alive. Further analysis may suggest a link between inflammation, hypercoagulability, and the mechanism for mortality in gastroparesis or as a marker of disease severity.