Behçet disease (BD) is a systemic vasculitis involving vessels from any size with various clinical features. Most BD cases are multifactorial and associated with the HLA B51 antigen. In rare and ...severe early onset cases, dominant Mendelian transmission has been linked to mutations in the TNFAIP3 gene encoding A20. Herein, we propose a systematic review of the literature about the haploinsufficiency A20 (HA20) published cases.
Our review of the 45 cases of HA20 from literature highlights the similarities and the differences between this genetic auto-inflammatory disease and classical BD. HA20 looks like BD if we consider recurrent oral (87%) and genital (67%) ulcers, arthralgia or arthritis (42%), skin involvement (53%) such as erythema nodosum or abdominal symptoms (60%) such as abdominal pain, digestive ulcers or diarrhea. However, HA20 differs from classical BD because its geographical distribution is ubiquitous, sex ratio is inversed (one man for two women), first symptoms occur in early childhood (median age = 5.5 years; interquartile range: 1–10) instead of adulthood, recurrent fever is common (62%) unlike classical BD, HLA B51 antigen is uncommon and abdominal symptoms are over-represented compared to classical BD. In addition, response to colchicine in HA20 is inconstant (24%) unlike classical BD.
High fever flares and digestive involvement starting in early childhood seem to be hallmarks of HA20 clinical features. Response to colchicine is unpredictable and biotherapies like anti-TNFα and anti IL1 appear to be treatments of choice, like for other auto-inflammatory diseases. Prospective description of larger cohort of HA20 cases is needed to understand better when this disease must be looked for and how to treat these patients.
•In sporadic or familial history of early onset BD, consider HA20.•In early onset recurrent febrile abdominal features suggesting IBD, think HA20.•Colchicine, methotrexate and anti-TNFα seem to be the best current therapeutic options.•The best of knowledge is yet to come in this polymorphous genetic disease.
Patients with cancer have an increased risk of venous thromboembolism (VTE). In addition, due to the growing use of computed tomography scans in these patients and the improved scanners and imaging ...qualities, many cases of VTE are diagnosed incidentally on images obtained for reasons other than suspicion of VTE. Studies have shown that as many as half of all cancer-related pulmonary embolism (PE) cases could be incidental. Despite the common occurrence, the optimal management of incidental PE in patients with cancer remains unclear. This review will summarize pertinent literature related to incidental PE in the cancer population and discuss their outcomes and recommended treatments.
In patients with cancer-associated venous thromboembolism, knowledge of the estimated rate of recurrent events is important for clinical decision-making regarding anticoagulant therapy. The Ottawa ...score is a clinical prediction rule designed for this purpose, stratifying patients according to their risk of recurrent venous thromboembolism during the first six months of anticoagulation. We conducted a systematic review and meta-analysis of studies validating either the Ottawa score in its original or modified versions. Two investigators independently reviewed the relevant articles published from 1st June 2012 to 15th December 2018 and indexed in MEDLINE and EMBASE. Nine eligible studies were identified; these included a total of 14,963 patients. The original score classified 49.3% of the patients as high-risk, with a sensitivity of 0.7 95% confidence interval (CI): 0.6-0.8, a 6-month pooled rate of recurrent venous thromboembolism of 18.6% (95%CI: 13.9-23.9). In the low-risk group, the recurrence rate was 7.4% (95%CI: 3.4-12.5). The modified score classified 19.8% of the patients as low-risk, with a sensitivity of 0.9 (95%CI: 0.4-1.0) and a 6-month pooled rate of recurrent venous thromboembolism of 2.2% (95%CI: 1.6-2.9). In the high-risk group, recurrence rate was 10.2% (95%CI: 6.4-14.6). Limitations of our analysis included type and dosing of anticoagulant therapy. We conclude that new therapeutic strategies are needed in patients at high risk for recurrent cancer-associated venous thromboembolism. Low-risk patients, as per the modified score, could be good candidates for oral anticoagulation. (This systematic review was registered with the International Prospective Registry of Systematic Reviews as: PROSPERO CRD42018099506).
Cancer and factor V Leiden mutation are both risk factors for venous thromboembolism (VTE). Cancer critically increases the thrombotic risk whereas Factor V Leiden is the most common pro-thrombotic ...mutation. The impact of the factor V Leiden on the risk of VTE in cancer patients remains uncertain.
To assess the impact of factor V Leiden mutation in cancer-associated thrombosis.
The EDITH hospital-based case-control study enrolled 182 patients with cancer and VTE as well as 182 control patients with cancer, matched for gender, age and cancer location, between 2000 and 2012, in the University Hospital of Brest. All cases and controls were genotyped for the factor V Leiden mutation and interviewed with a standardized questionnaire.
Twenty one of 182 (11.5%) patients with cancer-associated thrombosis carried the factor V Leiden mutation and 4 of 182 (2.2%) controls with cancer but no venous thrombosis. In multivariate analysis including cancer stage and family history of VTE, cancer patients with factor V Leiden mutation had a seven-fold increased risk of venous thromboembolism (adjusted odds ratio OR, 7.04; 95% CI, 2.01-24.63).
The pro-thrombotic Factor V Leiden mutation was found to be an independent additional risk factor for venous thromboembolism in cancer patients and might therefore be considered in the individual thrombotic risk assessment.
IntroductionThe post-thrombotic syndrome (PTS) is a form of chronic venous insufficiency due to a prior ipsilateral deep venous thrombosis (DVT). This is a frequent complication that develops in ...20%–50% of patients after a proximal DVT and is associated with significant healthcare, economic and societal consequences. In the absence of effective and well-tolerated treatment options for established PTS, effective preventative measures are needed. Anticoagulation itself reduces the risk of PTS, and low-molecular-weight heparin may reduce this further through anti-inflammatory properties targeting the initial acute inflammatory phase of DVT.Methods and analysisThe Tinzaparin Lead-In to Prevent the Post-Thrombotic syndrome pilot trial is an investigator-initiated, multicentre, open-label assessor-blinded trial that will randomise patients with first acute symptomatic common femoral or iliac DVT to receive either a 3-week lead-in course of tinzaparin, followed by rivaroxaban (experimental arm) or rivaroxaban alone (control arm). Its primary objectives are to assess: (1) proportion of PTS at 6 months using the Villalta scale and (2) study feasibility, which consists of (a) the proportion of screened patients eligible for the study, (2) the proportion of eligible patients recruited and (c) the proportion of recruited patients adherent to treatment (defined as at least 80% of drug taken). This study will determine the feasibility of a subsequent larger definitive trial. Secondary outcomes include change of quality of life scores, PTS severity, global improvement, patient satisfaction, bleeding, recurrent venous thromboembolism, leg pain, death and lost to follow-up. Target recruitment will be a total of 60 participants, recruited at 5–6 centres.Ethics and disseminationPrimary ethics approval was received from the Sunnybrook Health Sciences Center Research Ethics Board (approval ID 3315). Results of the study will be disseminated via peer-reviewed presentation at scientific conferences and open access publication.Trial registration number NCT04794569.
Background Planar ventilation/perfusion ( ) lung scintigraphy is a validated tool for the diagnosis of pulmonary embolism (PE). Nevertheless, given the high rate of nonconclusive , further ...investigation is often necessary. single-photon emission CT (SPECT) scan could improve performance, but sparse data are available on its accuracy. This study assessed the diagnostic performance of SPECT scan in a cohort of consecutive patients with suspected PE. Methods Three hundred twenty-one consecutive patients with a clinical suspicion of PE were prospectively included. Patients suspected of having PE were managed according to a reference diagnostic strategy validated by a 3-month follow-up. In addition to the reference strategy, patients had a SPECT scan, the results of which were compared with the initial work-up results. Results Prevalence of PE was 0 of 41 (0%; 95% CI, 0%–9%), six of 134 (4%; 95% CI, 2%–9%), 15 of 36 (42%; 95% CI, 27%–58%), and 28 of 32 (88%; 95% CI, 72%–95%) in the normal, low, intermediate, and high SPECT scan probability groups, respectively. The combination of SPECT scan with clinical probability was diagnostic in 88% of patients. Conclusions SPECT scan results show satisfactory accuracy for PE diagnosis. Validation of dedicated interpretation criteria is required, followed by outcome studies that use SPECT scan as part of a diagnostic strategy to rule out PE. Trial registry ClinicalTrials.gov ; No.: NCT01183026; URL: www.clinicaltrials.gov
Cancer therapy and progress in quality of imaging technologies for cancer surveillance and staging are in cause for the increase incidence of smaller incidental pulmonary embolism (PE). The clinical ...significance of incidental subsegmental pulmonary embolism (SSPE) is hard to define, balancing between possible false positive result, hypercoagulability signal, and truly venous thromboembolism (VTE) event. Evidence for optimal management of such findings are largely extrapolated from symptomatic SSPE in non-cancer patients and from symptomatic, more proximal PE in cancer patients. Current practice guidelines vary but some suggest withholding anticoagulation in selected patients. However, most SSPEs, incidental or not, should be treated as any other cancer-associated PE due to likely similar prognosis. Choice and duration of anticoagulation are extended from existing knowledge on more proximal PE.
•Incidental subsegmental pulmonary embolism is a frequent finding in cancer patients•Clinical relevance of incidental SSPE in cancer is uncertain, but prognosis might be similar to symptomatic more central PE•Confirmed incidental subsegmental pulmonary embolism should be treated as any other pulmonary embolism
PDF
