Dataset Information

Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR.

ABSTRACT: Clinical assessment and prognostic stratification of primary varicose veins have remained controversial and the molecular pathogenesis is unknown. Previous data have suggested a contribution of the MTHFR (methylenetetrahydrofolate reductase) polymorphism c.677C>T.We collected blood and vein specimens from 159 consecutive patients undergoing varicose vein surgery, or autologous vein reconstruction for arterial occlusive disease as controls. We compared the frequencies of c.677C>T and another polymorphism of MTHFR, c.1298A>C, with morphology and types of complicated disease. Morphology was recorded as a trunk or perforator type and peripheral congestive complication was defined as chronic venous insufficiency (CEAP C3-6) associated with edema and skin manifestations.Multivariate analysis of genotypes for c.677C>T and c.1298A>C indicated that c.677C>T was associated significantly with the trunk phenotype (43/53 patients, 81%, p < 0.01), while c.1298A>C was associated significantly with the perforator phenotype (18/24 patients, 75%, p < 0.01) of primary varicose veins. Accordingly, when both c.677C>T and c.1298A>C displayed a heterozygous genotype, the patients were more likely to present with both phenotypes. Additionally, c.1298A>C was found to be strongly linked to the congestive complication (34/51 patients, 67%, p < 0.01).Both polymorphisms of MTHFR may be involved in the morphological specification of primary varicose veins and contribute to the development of complicated disease.None.

SUBMITTER: Wilmanns C

PROVIDER: S-EPMC4484817 | biostudies-other | 2015 Feb

REPOSITORIES: biostudies-other

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Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR.

Wilmanns Christoph C Cooper Alexis A Wockner Leesa L Katsandris Sotirios S Glaser Nadine N Meyer Alexander A Bartsch Oliver O Binder Harald H Walter Paul Karl PK Zechner Ulrich U

EBioMedicine 20150115 2

<h4>Background</h4>Clinical assessment and prognostic stratification of primary varicose veins have remained controversial and the molecular pathogenesis is unknown. Previous data have suggested a contribution of the MTHFR (methylenetetrahydrofolate reductase) polymorphism c.677C>T.<h4>Methods</h4>We collected blood and vein specimens from 159 consecutive patients undergoing varicose vein surgery, or autologous vein reconstruction for arterial occlusive disease as controls. We compared the frequ ...[more]

PMID: 26137554

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Project description:BackgroundVaricose vein is a chronic condition that affects the lower extremities of the human body. Several factors have been implicated in the development of this disease, viz age, gender, weight, height and prolonged standing. Recently, genome-wide studies have identified genetic biomarkers that are associated with varicose veins in different ethnic groups. Such genetic studies are lacking in South Asians specifically in Indians where the prevalence of varicose veins is high, and it is important to replicate these variants in the stated population. The study aimed to replicate the association of genetic variants associated with varicose veins in this target population, which were found to be associated with the other ethnic groups.MethodologyThe studied cohort is of the Indian population comprising unrelated 104 varicose veins cases and 448 non-varicose vein controls. The samples were genotyped using the Illumina Global Screening Array. Using the genomic data from UK BioBank and 23andMe studied cohorts; eight genetic variants were selected to replicate in our dataset. The allelic association was performed to identify the effective allele and risk was estimated using odds ratio and p-value as level of significance. Multifactor Dimensionality Reduction was used to estimate the cumulative effect of variants in Indians.ResultVariant rs3791679 of EFEMP1 was found to be associated with varicose veins in Indians. After observing the association of the EFEMP1 with varicose veins, we further ensued to identify all genetic variants within EFEMP1 to uncover the additional variants associated with this trait. Interestingly, we identified six new variants of EFEMP1 gene that have shown association. Moreover, the cumulative effect of all associated variations was estimated and the risk was 2.7 times higher in cases than controls whereas independently their effect ranges from 0.37-1.58.ConclusionThis study identifies EFEMP1 as a potential gene related to the risk of varicose veins in Indians. It also highlights that evaluating the maximum number of variants of a gene rather than focusing solely on replicating single variations offers a more comprehensive and nuanced understanding of the genetic factors contributing to a complex trait like varicose veins.

Project description:The Vascular Quality Initiative (VQI) Varicose Vein Registry (VVR) represents a patient-centered database launched in January 2015. Previous work describing overall trends and outcomes of varicose vein procedures across the United States demonstrates a benefit from these procedures. The existing gaps in evidence to support current and future Medicare coverage of varicose vein procedures necessitate further description of clinical outcomes in patients ?65 years old compared with the population <65 years old.This study analyzed prospectively captured anatomic, procedural, and outcome data for all patients in a national cohort of all VQI VVR-participating centers. The VQI VVR database was queried for all patients undergoing varicose vein procedures between January 2015 and July 2016. Preprocedural and postprocedural Clinical, Etiology, Anatomy, and Pathophysiology (CEAP) classification, Venous Clinical Severity Score (VCSS), and patient-reported outcomes (PROs) were compared between patients <65 years and ?65 years old. Univariate descriptive statistics of demographic and procedural data were performed. Student t-tests were then performed on change in CEAP classification, VCSS score, and PROs (heaviness, achiness, throbbing, swelling, itching, appearance, and impact on work) for each group.There were 4841 varicose vein procedures performed from January 2015 to May 2016. There were 3441 procedures performed in 2691 patients (3631 limbs) in the group <65 years old and 1400 procedures performed in 1068 patients (1467 limbs) in the group ?65 years old. Truncal veins alone were the most common veins treated in both groups. The majority of patients were white and female in both groups. Most of the demographic characteristics were clinically similar (although statistically different) in both groups with the exception of a higher body mass index in the group <65 years old and a history of bilateral varicose vein treatment, and anticoagulation was more common among patients ?65 years old. Patients in both groups experienced statistically significant improvement in VCSS, PROs, and CEAP class. There was no difference in overall complications between age groups.All patients demonstrated an associated improvement in both clinical outcomes (CEAP class, VCSS) and PROs. There was no significant difference in the improvement in CEAP class and VCSS between patients younger and older than 65 years, although the younger population reported greater improvement in PROs. Given these findings, patients older than 65 years appear to benefit from varicose vein procedures and should not be denied interventions on their varicose veins and venous insufficiency on the basis of their age only.

Project description:BackgroundIliac vein compression syndrome (IVCS) is an underlying cause of varicose vein (VV) recurrence after venous surgery. However, the management of recurrent varicose veins (RVVs) combined with IVCS has rarely been reported. This study aimed to investigate the outcomes of a one-stop procedure to correct outflow obstruction and superficial reflux for patients with RVVs and IVCS.MethodsA retrospective analysis was conducted of 102 consecutive patients diagnosed with RVVs. Computed tomography venography (CTV) was performed to confirm IVCS. The cases were divided into 2 groups: the IRVVs group, including patients with RVVs and IVCS (n=48), and the RVVs group, including patients with RVVs only (n=54). The characteristics, vein reflux, and clinical, etiological, anatomical, and pathophysiological (CEAP) distribution were investigated. Then, the IRVVs group patients who underwent endovenous laser ablation (EVLA) (n=39) were divided into a further 2 groups: the EVLA + S group (n=19), who received EVLA and stenting of iliac vein, and the EVLA group (n=20), who received EVLA treatment alone. The great/small saphenous vein (GSV/SSV) trunk occlusion, VV recurrence, visual analogue scale (VAS), and venous clinical severity score (VCSS) were investigated.ResultsThe prevalence rate of femoral vein reflux was 81.2% in IRVVs group and 50% in RVVs group (P<0.05). In the IRVVs group, 72.9% of patients manifested as CEAP clinical class >3, which was higher than that in RVVs group (48.1%) (P<0.05). The 12-month GSV/SSV occlusion rate in the EVLA + S and EVLA groups were 94.7% and 90.0%, respectively. Totals of 9 patients in EVLA + S group and 6 patients in EVLA group had active venous ulcers, and the ulcer healing time in EVLA + S group was significantly shorter (27.22±7.12 vs. 46.67±9.83 days, P<0.05). The reductions in the VAS and VCSS values between baseline, 1 month, and 12 months in the EVLA + S group were more obvious than those in EVLA group (P<0.05).ConclusionsThe one-stop combination treatment of iliac venous stenting and EVLA in patients with RVVs and IVCS is safe and effective and provides prominent symptom relief, improved quality of life, and a more satisfactory ulcer healing than EVLA alone.

Project description:IntroductionDoctors have a legal requirement and duty of care to ensure patients are enabled to make an informed decision about their treatment, including discussion of the benefits, risks and alternatives to a procedure. A patient-centred approach to consent has been firmly established in Ireland, and fundamental to this is the ability to engage in a dialogue that offers comprehensible information to patients. Telemedicine has revolutionised the way we can deliver care to patients in the modern era of computers, tablets, and smartphones, and its use has been rapidly expanded. Novel digital strategies to improve the informed consent process for surgical procedures have been increasingly under investigation over the last 10-15 years and may offer a low cost, accessible and tailored solution to consent for surgical interventions. Within vascular surgery, superficial venous interventions have been associated with a high number medicolegal claims and also represents an area within the specialty with rapidly evolving technology and techniques. The ability to communicate comprehensible information to patients has never been greater. Thus, the author's aim is to explore whether it is feasible and acceptable to deliver a digital health education intervention to patients undergoing endovenous thermal ablation (EVTA) to supplement the consent process.MethodsThis is a prospective, single centre, randomised controlled, feasibility trial recruiting patients with chronic venous disease deemed suitable to undergo EVTA. Patients will be randomised to receive either standard consent (SC) or a newly developed digital health education tool (dHET). The primary outcome is feasibility; assessing the recruitment and retention rate of participants and assessing acceptability of the intervention. Secondary outcomes include knowledge retention, anxiety and satisfaction. This feasibility trial is designed to recruit 40 patients, which will allow for a moderate dropout rate. This pilot study will inform the authors of the appropriateness of an adequately powered multicentre trial.DiscussionTo examine the role of a digital consent solution for EVTA. This may improve and standardise the consent dialogue with patients and may have the potential to reduce claims related to poor consent processes and disclosure of risks.Ethical committee referenceEthical approval has been sought and received from both the Bon Secours Hospital and RCSI (202109017), on 14 May 2021 and 10 October 2021, respectively.Trial registrationClinicalTrials.gov Identifier: NCT05261412 , registered on 1 March 2022.

Dataset Information

Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR.

Publications

Morphology and Progression in Primary Varicose Vein Disorder Due to 677C>T and 1298A>C Variants of MTHFR.

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