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1.
Clín. investig. arterioscler. (Ed. impr.) ; 32(4): 171-174, jul.-ago. 2020. ilus
Article in English | IBECS | ID: ibc-194697

ABSTRACT

Arterial and venous thromboses are very prevalent diseases and it has been discovered that they share some common pathways, but their presentation in young patients is rare and should raise concern for thrombophilia. Therefore, the case is presented of a 34 year-old female with no prior pertinent history and with no predisposing factors. She was diagnosed with a pulmonary embolism, with an incidental finding of a left ventricular thrombus. A coronary artery thrombosis was also found. The patient met the criteria for a thrombophilia work-up, but the authors would like to express their concern on whether these tests are truly necessary, as they would not have change the patient management


La trombosis arterial y la trombosis venosa son enfermedades altamente prevalentes, y se ha visto que comparten algunas vías en su formación. Sin embargo, su presentación en pacientes jóvenes es rara y debe generar sospechas por trombofilias. Por esto queremos describir el caso de una mujer de 34 años sin antecedentes clínicos pertinentes y sin factores predisponentes que fue diagnosticada de tromboembolismo pulmonar y con hallazgo incidental de un trombo en el ventrículo izquierdo y trombosis de la arteria coronaria. La paciente cumplía criterios para realizar estudios de trombofilia, pero abrimos la discusión de si estos son verdaderamente necesarios, ya que no modificarían el manejo de la paciente


Subject(s)
Humans , Female , Adult , Coronary Thrombosis/diagnostic imaging , Thrombophilia/diagnostic imaging , Pulmonary Embolism/diagnosis , Coronary Thrombosis/diagnosis , Coronary Thrombosis/drug therapy , Thrombophilia/drug therapy , Incidental Findings , Echocardiography/methods , Cardiac Catheterization , Anticoagulants/therapeutic use
3.
Radiographics ; 40(3): 875-894, 2020.
Article in English | MEDLINE | ID: mdl-32330086

ABSTRACT

Venous thromboembolism (VTE), which includes deep venous thrombosis and pulmonary embolism, is a significant cause of morbidity and mortality. In recent decades, US, CT, and MRI have surpassed catheter-based angiography as the imaging examinations of choice for evaluation of vascular structures and identification of thrombus owing to their ready availability, noninvasive nature, and, in the cases of US and MRI, lack of exposure to ionizing radiation. As a result, VTE and associated complications are commonly identified in day-to-day radiologic practice across a variety of clinical settings. A wide range of hereditary and acquired conditions can increase the risk for development of venous thrombosis, and many patients with these conditions may undergo imaging for unrelated reasons, leading to the incidental detection of VTE or one of the associated complications. Although the development of VTE may be an isolated occurrence, the imaging findings, in conjunction with the clinical history and vascular risk factors, may indicate a predisposing condition or underlying diagnosis. Furthermore, awareness of the many clinical conditions that result in an increased risk of venous thrombosis may aid in detection of thrombus and any concomitant complications. For these reasons, it is important that practicing radiologists be familiar with the multimodality imaging findings of thrombosis, understand the spectrum of diseases that contribute to the development of thrombosis, and recognize the potential complications of hypercoagulable states and venous thrombosis. Online DICOM image stacks and supplemental material are available for this article. ©RSNA, 2020.


Subject(s)
Abdominal Cavity/blood supply , Abdominal Cavity/diagnostic imaging , Pelvis/blood supply , Pelvis/diagnostic imaging , Thrombophilia/diagnostic imaging , Venous Thrombosis/diagnostic imaging , Humans
4.
J Thromb Thrombolysis ; 49(2): 325-331, 2020 Feb.
Article in English | MEDLINE | ID: mdl-31493290

ABSTRACT

Pylephlebitis, or suppurative thrombophlebitis of the portal vein, typically occurs in the context of an intraabdominal infection or abdominal sepsis. Antibiotics are the mainstay of treatment. The role of anticoagulation in the management of pylephlebitis is controversial, and data regarding its impact on outcomes is limited. The records of 67 consecutive patients with pylephlebitis treated at our institution over a 19 year period were retrospectively reviewed. Data was gathered regarding their baseline characteristics, presentations, management, and outcomes. Patients who did and did not receive anticoagulation were compared. Outcomes of interest included survival, portal vein thrombosis (PVT) resolution, development of chronic symptomatic portal hypertension, and major bleeding. Forty-seven patients received anticoagulation and 20 did not. The anticoagulated and non-anticoagulated groups did not differ significantly with respect to potential covariates or confounders. Anticoagulated patients had significantly higher rates of PVT resolution than non-anticoagulated patients (58% vs. 21%, p = 0.0201). This translated to lower rates of future chronic portal hypertensive symptoms among anticoagulated patients (11% vs. 47%, p = 0.0034). Anticoagulated patients had a trend toward improved survival however this improvement was not significant on multivariable analysis. There was no significant difference in rates of major bleeding between groups. Thrombophilia testing was common in this cohort however the occurrence of meaningful positive results was exceedingly low. Anticoagulation significantly improves the rate of PVT resolution, and significantly reduces the rate of chronic symptomatic portal hypertension, among patients with pylephlebitis. Treatment of pylephlebitis should incorporate the use of systemic anticoagulation whenever possible.


Subject(s)
Anticoagulants/administration & dosage , Phlebitis/diagnostic imaging , Phlebitis/drug therapy , Adolescent , Adult , Aged , Aged, 80 and over , Anticoagulants/blood , Cohort Studies , Female , Humans , Male , Middle Aged , Phlebitis/blood , Portal Vein/diagnostic imaging , Retrospective Studies , Thrombophilia/blood , Thrombophilia/diagnostic imaging , Thrombophilia/drug therapy , Treatment Outcome , Young Adult
5.
J Clin Lab Anal ; 34(1): e23017, 2020 Jan.
Article in English | MEDLINE | ID: mdl-31441128

ABSTRACT

BACKGROUND: Thromboelastography (TEG) has been established as a sensitive method to assess the whole coagulation process. The aim of the study was to evaluate the diagnosis significance of TEG on hypercoagulability in patients suffering renal mass. METHODS: A total of 478 patients were diagnosed with renal tumor by histolopathologic examination and were assigned to three groups. Group A: 79 patients with benign renal tumor; Group B: 317 patients with renal cell carcinoma (RCC, Fuhrman grades I and II); Group C: 82 patients with high-risk RCC (Fuhrman grades III and IV). Subgroup analysis was performed in malignant renal tumor patients according to the TMN classification. The clinical data, whole blood TEG, and conventional coagulation tests were reviewed. RESULTS: There was no statistically significant difference between subgroups in respect to conventional coagulation tests. Hypercoagulablity was marked in Group C according to the TEG parameters. The elevated platelets and fibrinogen is linked with hypercoagulability in renal tumor. The positive correlation was between fibrinogen and MA value (r = .663, P < .05). The pathologic tumor stages were also associated with the TEG parameters. CONCLUSION: Patients suffering advanced RCC are hypercoagulable which can be identified by TEG. MA value could be potential diagnosis indicators for detecting high-grade RCC.


Subject(s)
Carcinoma, Renal Cell/blood , Carcinoma, Renal Cell/pathology , Kidney Neoplasms/blood , Kidney Neoplasms/pathology , Thrombelastography , Thrombophilia/diagnostic imaging , Thrombophilia/diagnosis , Blood Coagulation , Female , Humans , Lymphocytes/pathology , Male , Middle Aged , Neoplasm Staging , Neutrophils/pathology , Thrombophilia/blood
6.
Biomed Res Int ; 2019: 8787010, 2019.
Article in English | MEDLINE | ID: mdl-31534965

ABSTRACT

Uterine radial artery resistance index (URa-RI) by Doppler ultrasound may reflect the changes in the uteroplacental circulation and be associated with adverse events in early pregnancy. Recurrent pregnancy losses (RPL) are associated with thrombophilia, and anticoagulation treatment with low molecular weight heparin improves pregnancy outcome in women with RPL and thrombophilia. A retrospective cohort study was conducted in 139 pregnant women with 3 or more RPL and thrombophilia. The relationship between pregnancy outcome and dynamic changes of URa-RI was analyzed in 116 women who delivered a liveborn infant and 23 who miscarried the index pregnancy. Patients were on preconception low molecular weight heparin, low-dose aspirin (81mg per day), and prednisone treatment. URa-RI was measured during periovulation time, at the time of positive pregnancy test, and then repeated every two weeks until 32-week gestation or the time of miscarriage. The URa-RI at 8-week gestation was significantly higher in women who miscarried the index pregnancy than those who delivered alive born infant (0.51±0.08 vs. 0.42±0.03, P<0.001). Receiver operating characteristic curve analysis demonstrated that URa-RI of 8 wk gestation effectively distinguished women who miscarried from those who had a live birth with an area under the curve of 82.6% (95% CI 69.01-97.17). After adjusting for covariates including age, BMI, and number of miscarriages, multiple logistic regression models showed that each 0.1 unit increase of URa-RI of 8 wk gestation was associated with 18.70-point increase in the risk of miscarriage (OR19.70, 95%CI 4.26-91.1, P<0.001), and women with an URa-RI≥0.45 had an OR of 49.48 (95% CI 8.01-307.95; P<0.001) for miscarriage compared to those who had URa-RI<0.45. In women with RPL and inherited thrombophilia, increased URa-RI at 8-week gestation was associated with spontaneous abortion independent of other risk factors while they were on anticoagulation treatment.


Subject(s)
Abortion, Habitual , Pregnancy Complications, Hematologic , Thrombophilia , Ultrasonography, Doppler, Duplex , Uterine Artery , Vascular Resistance , Abortion, Habitual/blood , Abortion, Habitual/diagnostic imaging , Abortion, Habitual/drug therapy , Abortion, Habitual/physiopathology , Anticoagulants/administration & dosage , Aspirin/administration & dosage , Female , Heparin, Low-Molecular-Weight/administration & dosage , Humans , Live Birth , Pregnancy , Pregnancy Complications, Hematologic/blood , Pregnancy Complications, Hematologic/diagnostic imaging , Pregnancy Complications, Hematologic/drug therapy , Pregnancy Complications, Hematologic/physiopathology , Retrospective Studies , Thrombophilia/blood , Thrombophilia/diagnostic imaging , Thrombophilia/drug therapy , Thrombophilia/physiopathology , Uterine Artery/diagnostic imaging , Uterine Artery/physiopathology
8.
Medicine (Baltimore) ; 98(28): e16318, 2019 Jul.
Article in English | MEDLINE | ID: mdl-31305418

ABSTRACT

RATIONALE: Although Factor V Leiden (FVL) mutation is a major cause of inherited thrombophilia in Western populations; the mutation is extremely rare in Asia. PATIENT CONCERNS: Here we report a case of a 28-year old Korean woman admitted to our hospital with extensive pulmonary embolism. DIAGNOSIS: She was heterozygous for FVL mutation up on evaluation, and screening for asymptomatic family members also revealed heterozygous FVL mutation for her mother. INTERVENTIONS: Enoxaparin 1 mg/kg was initiated, followed by rivaroxaban 15 mg every 12 hours. OUTCOMES: The patient showed improvement in both subjective dyspnea and right ventricular dysfunction and was successfully discharged after five hospital days. LESSONS: FVL mutation screening may be considered in Asian patients with thrombophilia of uncertain etiology in the future.


Subject(s)
Factor V/genetics , Mutation , Pulmonary Embolism/genetics , Thrombophilia/genetics , Adult , Asian People/genetics , Diagnosis, Differential , Female , Humans , Pulmonary Embolism/diagnostic imaging , Pulmonary Embolism/drug therapy , Republic of Korea , Thrombophilia/diagnostic imaging , Thrombophilia/drug therapy
9.
Ann Allergy Asthma Immunol ; 120(5): 461-464, 2018 05.
Article in English | MEDLINE | ID: mdl-29501486
10.
BMJ Case Rep ; 20182018 Jan 26.
Article in English | MEDLINE | ID: mdl-29374648

ABSTRACT

Omental infarction is a rare cause of acute and non-specific abdominal pain. We report a case of a 46-year-old man who presented to the emergency room with right upper quadrant cramping pain that was of sudden onset. The patient's presentation was later diagnosed as an omental infarction, by an abdominal CT. After extensive work-up, it was revealed that the cause of the patient's omental infarction was secondary to a hypercoagulable state caused by antiphospholipid syndrome, based on his thrombophilia work-up. The patient was successfully managed conservatively and was started on lifelong anticoagulation. The patient was followed up with an abdominal CT after 2 months into therapy, which showed a decrease in the size of the omental infarction and a significant improvement in his state.


Subject(s)
Abdominal Pain/etiology , Infarction/complications , Omentum/blood supply , Peritoneal Diseases/complications , Thrombophilia/complications , Abdominal Pain/diagnostic imaging , Humans , Infarction/diagnostic imaging , Male , Middle Aged , Omentum/diagnostic imaging , Peritoneal Diseases/diagnostic imaging , Thrombophilia/diagnostic imaging , Tomography, X-Ray Computed
11.
Pancreatology ; 17(3): 478-483, 2017.
Article in English | MEDLINE | ID: mdl-28372957

ABSTRACT

BACKGROUND: Perioperative and short-term postoperative parameters are similar comparing spleen-preserving distal pancreatectomy (SPDP) and distal pancreatectomy with splenectomy (DPS). But there are no sound data evaluating the long term risk of postoperative thromboses and infectious complications after splenectomy. The present study evaluated whether the coagulation status differs in patients after SPDP and DPS, and whether that matters clinically. METHODS: A total of 41 patients after DP (SPDP = 20; DPS = 21) were followed up, focusing on alterations of patient coagulation and immune status. To assess kinetics of the coagulation process, qualitative tests (multiple platelet function analyzer, rotational thrombelastography) were used in addition to global coagulation tests. RESULTS: Coagulation tests revealed a significant enhanced tendency for blood-platelet aggregation and coagulation activation in patients after DPS compared to patients after SPDP. No septic or thromboembolic events were observed in any patient. CONCLUSION: Hypercoagulability in splenectomized patients persists over years. Thus, a correlation of this finding with thromboembolic events and mortality years after splenectomy should to be performed in a large cohort.


Subject(s)
Pancreatectomy/adverse effects , Postoperative Complications/blood , Thrombophilia/blood , Thrombophilia/etiology , Adult , Aged , Female , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Platelet Aggregation , Postoperative Complications/epidemiology , Postoperative Complications/prevention & control , Risk Assessment , Splenectomy , Surgical Wound Infection/prevention & control , Thromboembolism/etiology , Thrombophilia/diagnostic imaging , Thrombosis/etiology , Thrombosis/prevention & control , Tomography, X-Ray Computed , Whole Blood Coagulation Time , Young Adult
12.
Mol Med Rep ; 15(4): 1668-1672, 2017 Apr.
Article in English | MEDLINE | ID: mdl-28259966

ABSTRACT

Thrombophilia is a multifactorial disorder involving environmental and genetic factors. Well­known factors that result in predisposition to congenital disorders associated with thrombophilia include antithrombin deficiency, protein C and S deficiency, Factor V Leiden mutation, abnormal prothrombin and antiphospholipid syndrome. The present study revealed an association between a mutation of the F2 gene, which codes for coagulation factor II, thrombin, and the risk of thrombophilia in a Han Chinese family, of which four members (I­2, II­2, II­3 and III­1) had a history of deep venous thromboembolism. The disease was measured in this family using laboratory measurements and computed tomography angiography. To identify the abnormality underlying the increased thrombophilia risk, whole­exome sequencing technology was used to analyze two affected individuals (II­2 and III­1). An exonic missense F2 mutation, T165M (NM_000506:c.C494T:p.T165M;rs5896), was identified from a total of 2,222 and 2,203 genetic variations observed in the two affected individuals, respectively, which were subsequently filtered and confirmed using Sanger sequencing. I­2, II­3 and III­1 shared this mutation with the proband (II­2), and II­6 had a heterozygous form of the mutation. This deleterious mutation was not identified in normal controls. The present study may improve understanding of the function of the F2 gene.


Subject(s)
Asian People/genetics , Ethnicity/genetics , Genetic Predisposition to Disease , Thrombophilia/genetics , Adult , Blood Coagulation , Computed Tomography Angiography , Conserved Sequence , Exome/genetics , Family , Female , Genetic Association Studies , Humans , Male , Middle Aged , Pedigree , Prothrombin/genetics , Risk Factors , Sequence Analysis, DNA , Species Specificity , Thrombophilia/blood , Thrombophilia/diagnostic imaging
13.
Neuro Endocrinol Lett ; 38(7): 479-483, 2017 Dec.
Article in English | MEDLINE | ID: mdl-29369598

ABSTRACT

Hereditary thrombophilia is a blood coagulation disorder that increases the risk of venous thromboembolism, due to several genetic risk factors. Factor V Leiden(FVL) is the most common contributing factor to thrombophilia in the Caucasian population but very rare in Asian population and concurrent occurrence of antithrombin(AT) deficiency and FVL in Chinese Han population is even more rare. We report the case of a 22-year-old female who experienced recurrent intracranial venous thromboses, furthermore, color Doppler ultrasound showed multiple extracranial thromboses. Thrombophilia was suspected and screening tests indicated decreased AT activity and activated protein C sensitivity ratio, then further sequencing analysis identified missense mutations in SERPINC1 and F5. The patient's condition slightly improved after treatment with low molecular heparin during hospitalization followed by oral warfarin after discharge. The present report highlights a very rare case of thrombophilia with concurrent occurrence of AT deficiency and FVL in a Chinese Han patient, and our findings suggest that genetic testing is a reliable approach for identifying different risk factors.


Subject(s)
Factor V/genetics , Thrombophilia/complications , Venous Thromboembolism/etiology , China , Female , Humans , Risk Factors , Thrombophilia/diagnostic imaging , Thrombophilia/genetics , Ultrasonography, Doppler, Color , Venous Thromboembolism/diagnostic imaging , Venous Thromboembolism/genetics , Young Adult
14.
Dtsch Med Wochenschr ; 141(20): 1432-1435, 2016 Sep.
Article in German | MEDLINE | ID: mdl-27701685

ABSTRACT

Hereditary and acquired thrombophilias are known risk factors for a first venous thromboembolism (VTE). In contrast, the relative risk of VTE recurrence in presence of hereditary thrombophilia seems to be at most moderately elevated. However, thrombophilia still contributes to a greater extent to the absolute risk of VTE recurrence. This is explained by the 20-50-fold increased risk of VTE in a subject after a first VTE when compared to the state without previous VTE. Testing for thrombophilia may therefore be helpful in patients at intermediate risk of recurrence in whom the finding of a "strong" thrombophilia can bring about a decision for long-term anticoagulation.


Subject(s)
Mass Screening/statistics & numerical data , Thrombophilia/diagnostic imaging , Thrombophilia/epidemiology , Venous Thromboembolism/diagnostic imaging , Venous Thromboembolism/epidemiology , Adult , Aged , Aged, 80 and over , Clinical Decision-Making , Evidence-Based Medicine , Female , Germany/epidemiology , Humans , Male , Middle Aged , Needs Assessment , Patient Selection , Prevalence , Prognosis , Reproducibility of Results , Risk Assessment , Sensitivity and Specificity , Young Adult
15.
Am J Med Genet A ; 170(12): 3083-3089, 2016 12.
Article in English | MEDLINE | ID: mdl-27530094

ABSTRACT

Congenital limb deficiency defects (LDDs) are etiologically heterogeneous. Acquired causes include amniotic bands, teratogens exposure, and chorionic villus sampling before 10 weeks' gestation and intrinsic causes include single-gene disorders and chromosome abnormalities. However, a substantial number of cases, especially terminal transverse deficiency defects, occur without an obvious cause and are ascribed to vascular disruption events. Some studies have found an association between maternal thrombophilia and congenital LDDs. We investigated this association through a review of all prenatally identified LDDs at a major tertiary care center in Toronto, Canada over a 12-year period. Our results showed a higher prevalence of thrombophilias among women with a pregnancy affected with an LDD when compared to the general population [χ2 (3) = 54.63, P < 0.01]. Our research was strengthened by the inclusion of affected pregnancies regardless of outcome, and strict criteria to avoid including LDDs with a non-vascular etiology. Most LDDs were identified during the routine 18-20 week anatomy ultrasound, but some were discovered as early as 13 weeks' gestation. We found an excess of left-sided defects among terminal transverse but not longitudinal deficiencies; additionally, all diagnoses of maternal thrombophilia occurred in the terminal transverse group. Our results support thrombophilia screening in all women with a prenatally diagnosed fetal LDD as well as careful evaluation of the fetal extremities during prenatal ultrasounds in women with a known thrombophilia. © 2016 Wiley Periodicals, Inc.


Subject(s)
Blood Vessels/physiopathology , Extremities/physiopathology , Limb Deformities, Congenital/physiopathology , Thrombophilia/physiopathology , Adult , Amniotic Band Syndrome/physiopathology , Blood Vessels/diagnostic imaging , Canada , Chorionic Villi Sampling/methods , Extremities/blood supply , Female , Gestational Age , Humans , Limb Deformities, Congenital/diagnostic imaging , Limb Deformities, Congenital/etiology , Male , Mass Screening , Pregnancy , Thrombophilia/diagnostic imaging , Thrombophilia/epidemiology , Thrombophilia/etiology
17.
Stroke ; 47(7): 1920-2, 2016 07.
Article in English | MEDLINE | ID: mdl-27188406

ABSTRACT

BACKGROUND AND PURPOSE: Spontaneous echo contrast (SEC) is frequently detected in patients with atrial fibrillation (AF). Coexisting SEC in patients with AF may be associated with heightened thrombogenicity, which affects stroke outcomes. METHODS: Consecutive stroke patients with nonvalvular AF who underwent transesophageal echocardiography were included in this study. We compared initial stroke severity and functional outcome at 3 months between the patients with and those without SEC. RESULTS: Of 440 patients with nonvalvular AF who underwent transesophageal echocardiography during a 7-year period, 193 (43.9%) patients had SEC. Stroke was more severe in the patients with SEC than in those without SEC (National Institute of Health Stroke Scale score: median [interquartile range], 5 [2-12] versus 3 [1-8]; P=0.004). The patients with SEC more frequently had poor functional outcomes (modified Rankin scale score of >2) at 3 months than those without SEC (32.3% versus 16.1%; P<0.001). On multivariate analysis, the presence of SEC was an independent factor of poor outcome (odds ratio, 2.09; 95% confidence interval, 1.24-3.53). CONCLUSIONS: In the ischemic stroke patients with nonvalvular AF, coexisting SEC was associated with more severe stroke and was predictive of poor long-term functional outcome.


Subject(s)
Atrial Fibrillation/complications , Echocardiography, Transesophageal , Erythrocyte Aggregation , Stroke/etiology , Aged , Aged, 80 and over , Atrial Fibrillation/diagnostic imaging , Brain Damage, Chronic/etiology , Female , Fibrinolysis , Humans , Male , Middle Aged , Recovery of Function , Retrospective Studies , Severity of Illness Index , Thrombophilia/diagnostic imaging , Thrombophilia/etiology , Treatment Outcome
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