Clinical Case Summary

We report a male in his 20s with extensive, treatment resistant Crohn’s disease (CD) presented to Emergency Department with vomiting and increased stool frequency with ascites on examination. Biochemically, he had raised inflammatory markers, elevated liver transaminases, and prolonged prothrombin time. In addition, stool cultures and a full non-invasive liver screen were negative but his faecal calprotectin was raised. He was treated as flare of Crohn’s Disease.
Computed tomography of abdomen was unremarkable. Ascites, splenomegaly, and pneumobilia were discovered by further abdominal ultrasonography. Subsequently, magnetic resonance cholangiopancreatography showed caudate lobe hypertrophy suspicious of Budd-Chiari Syndrome (BCS). This is then confirmed with ultrasound Doppler of hepatic vein demonstrating multiple occluded hepatic veins. Given his negative thrombophilia screen, the vascular thrombosis favours a complication secondary to Crohn’s Disease. He underwent an uncomplicated transjugular intrahepatic portosystemic shunt and started on life-long anticoagulation.
Despite the well-established link between inflammatory bowel disease (IBD) and increased venous thromboembolism (VTE) risk, clot formation in the hepatic vein in BCS is extremely rare.^1,2 BCS has an incidence of 1/100000.²The underlying mechanism of VTE in the flare of IBD is related to the complex interaction between inflammatory mediators and coagulation cascade.¹ Extensive disease, hospitalisation, and chronic steroid use also further heightened the thrombotic state in this case.¹
Our case reiterates the increased VTE risk in IBD patients and highlights a less common association between CD and BCS as compared to ulcerative colitis. Timely diagnosis is key to preventing disease progression to liver failure. As such, BCS should be considered in patients with transaminitis, ascites and splenomegaly during a CD flare.

References

1. Zhang H, Wang X. Risk factors of venous thromboembolism in inflammatory bowel disease: A systematic review and meta-analysis. Frontiers in Medicine. 2021 Jun 28;8. doi:10.3389/fmed.2021.693927
2. Aydinli M. Budd-Chiari Syndrome: Etiology, pathogenesis and diagnosis. World Journal of Gastroenterology. 2007;13(19):2693. doi:10.3748/wjg.v13.i19.2693
3. Figure 1: Doppler of hepatic vein demonstrating occlusion of multiple hepatic veins.

Clinical Case Summary

​Introduction: With approximately 100 cases annually, leptospirosis is among the rarest zoonotic infectious diseases in Germany. It is caused by Leptospira bacteria, which are transmitted through contact with contaminated water or soil. While most infections are self-limiting, some progress to sepsis and multiorgan failure.
Case report: We report the case of a previously healthy 44-year-old man who presented to the emergency department with fever and diarrhoea. Laboratory tests revealed liver failure with hyperbilirubinemia, coagulopathy, and renal dysfunction. Due to his deteriorating condition and unexplained organ failure, he was admitted to the intensive care unit. His clinical status worsened further, requiring endotracheal intubation due to respiratory insufficiency. CT imaging showed bilateral pneumonia and thickened colonic walls. To improve oxygenation, prone positioning was applied. Microbiological testing detected Leptospira in both blood and urine. Treatment with meropenem led to clinical improvement, and the patient was extubated after seven days. Interestingly post-extubation the patient presented tetraplegia and aphasia, which gradually improved. Brain MRI and lumbal puncture did not show any relevant abnormalities.
Conclusion: Icteric leptospirosis affects approximately 5–10% of symptomatic cases and can progress rapidly, with a mortality rate between 5–15%. In cases of moderate to high clinical suspicion, empiric treatment should be initiated promptly, even before laboratory confirmation. This case illustrates a rare and severe presentation of leptospirosis with multiple organ involvement and transient neurological deficits. Clinicians should consider leptospirosis in the differential diagnosis of acute liver failure and refer severe cases promptly to specialised intensive care centers.

Introduction

Diagnosis of chronic pancreatitis (CP) is challenging, especially in early stages when typical clinical signs and parenchymal changes are lacking. To date, evaluation by endoscopic ultrasound (EUS) using Rosemont criteria (RC) is the gold standard for the diagnosis of CP, but represents an invasive method with still suboptimal accuracy. Therefore, it is of crucial interest to develop non invasive, widely applicable tests for the diagnosis of CP. Recently the Gemelli chronic pancreatitis ultrasound score (USCP) has been developed to fill this gap (1). Comparable to liver stiffness measurement, transabdominal ultrasound (US) with 2D shear wave elastography (2D SWE) could represent an additional alternative for the diagnosis of CP. It uses measurement of tissue stiffness, which increases naturally with chronic inflammatory changes, present in CP (2).

Aims & Methods

We conducted a single center prospective case control study where all the included subjects underwent EUS first (for the suspicious of CP or other reasons such as lithiasis), with RC defined patient cohorts with chronic pancreatitis or absence of parenchymal changes. Patients with and without CP subsequently underwent US with evaluation of the pancreas using 2D SWE (in m/s) and characterization by the USCP score (LogiqE10, GE Healthcare). Primary outcome was agreement between the different evaluation techniques, namely RC and 2D SWE. Secondary outcome was the evaluation of a cut off value of SWE differentiating values in CP from normal values. Main exclusion criteria were patients with liver cirrhosis, acute pancreatitis and inability to visualize the pancreas with US.

Results

51 patients with CP and 51 without CP were included. Median SWE were statistically different between groups (no CP 1.50m/s; IQR 1.34-1.63 and with CP 1.83 m/s; IQR 1.68-2.08; p<0.0001). Patients with RC indeterminate for CP had lower SWE values compared to patients with RC consistent with CP (Median 1.67m/s, IQR 1.52-1.72 vs. 1.90 m/s, IQR 1.72-2.12, p<0.0001). Median USCP Score significantly differed between groups (no CP 0-1 points, with CP 3-9 points, p<0.0001). SWE values did not correlate with age, BMI, HbA1c or stool elastase levels, but correlated significantly with USCP score (p<0.001) and RC (p<0.001). USCP Score significantly correlated with BMI (p=0.011), stool elastase levels (p<0.001), HbA1c (p=0.002) as well as RC (p<0.0001). We defined a cutoff- SWE value of <1.42 m/s to rule out CP with a sensitivity of 97% (NPV 98%) and a SWE cut off >1.97 ms/s to diagnose CP with a specificity of 97% (PPV 92%).

Conclusion

Transabdominal ultrasound evaluation of the pancreas with 2D SWE is a promising, widely applicable and non-invasive tool for the diagnosis of CP. More studies with larger cohorts confirming the results are necessary.

References

1)Pagliari D, et al. A new ultrasound score for the assessment and follow-up of chronic pancreatitis: The 'Gemelli USCP score'. Dig Liver Dis. 2020 Jun;52(6):644-650.
2) Yashima Y et al. Acoustic radiation force impulse elastography for noninvasive assessment of chronic pancreatitis. J Gastroenterol. 2012 Apr;47(4):427-32.

Introduction

The HLA-DQ2.5, -DQ2.2 or -DQ8 haplotypes are necessary for coeliac disease development with homozygotes of DQ2.5 carrying the highest disease risk. However, with only 1:4-1:7 of true patients usually diagnosed, the true haplotype distribution is unknown. It can be hypothesized that the distribution differs in the large group of undiagnosed individuals who likely present with less distinct symptoms and older age.

Aims & Methods

The aim of this study was therefore to investigate the HLA-DQ haplotype distribution including both known and new, previously undiagnosed patients. A population-based study of 52,588 adults was screened for coeliac disease by serology, identifying 470 new cases (Marsh 3) in addition to 376 known cases identified via registries. All cases and a random sample of 1412 controls underwent HLA-DQA1- and HLA-DQB1-sequencing to infer relevant HLA-DQ haplotype combinations (DQ2.5/DQ2.5, DQ2.5/DQ2.2, DQ2.2/DQ7.5 [DQ2.5trans], DQ8/DQ8, DQ2.5/DQ8, DQ2.5/DQ7.5, DQ2.5/DQX, DQ2.2/DQ2.2, DQ2.2/DQ8, DQ2.2/DQX, DQ8/DQX, DQX/DQX [neither DQ2 nor DQ8]). Odds ratios (OR) with 95% confidence intervals (CI) for risk assessment were calculated.

Results

Haplotype frequencies in cases vs. controls were 85.2% vs. 22.3% (DQ2.5cis), 8.3% vs. 21.6% (DQ8), and 1.2% vs. 8.2% (DQ2.2). DQ2.5 homozygosity carried the highest risk: OR 16.6 (CI 9.6-31.1), while DQ2.5/DQX had an OR of 6.3 (5.2-7.7). DQ2.5trans, although rare, still conferred a high risk (OR 10.6, 3.8-30.8). DQ8 homozygosity also posed a high risk (OR 7.5, 3.9-14.2) while DQ8/DQX had an OR of 2.1 (1.4-3.0). ORs for DQ2.2/DQ2.2 and DQ2.2/DQX were 3.0 (0.4-13.0) and 0.7 (0.3-1.3), respectively. No clear risk differences were observed between new and known cases, however, none of the new cases carried DQX/DQX in contrast to 5.6% of the known cases.

Conclusion

We found a gene-dose effect linked to DQ2.5 and DQ8 in both known and new cases, with a surprisingly high proportion of DQ8 for a Nordic population. Conversely, the large proportion of DQX/DQX in known cases compared to the absence in new cases, suggests a high prevalence of historically misdiagnosed patients.

References

1. Sollid LM (2017) The roles of MHC class II genes and post-translational modification in celiac disease. Immunogenetics 69: 605-616
2. Lukina P, Andersen IL, Eggen PT, Mjones PG, Ronne E, Bolstad N, et al. Coeliac disease in the Trondelag Health Study (HUNT), Norway, a population-based cohort of coeliac disease patients. BMJ Open. 2024;14(1):e077131.

Introduction

As around 10% of upper gastrointestinal (UGI) cancers are missed in endoscopies, quality standards for UGI endoscopy have been formulated by the European Society of Gastrointestinal Endoscopy (ESGE). So far, compliance to these standards in clinical practice is largely unknown.

Aims & Methods

We aimed to assess the adherence to and the impact of implementation of the ESGE quality standards for UGI endoscopy in a multicenter prospective cohort study. Endoscopists of three centers underwent a 1-hour training on procedural quality standards, including inspection time (≥7 minutes), photodocumentation (≥ 10 anatomical landmarks + abnormalities), use of standardized terminology (e.g. Los Angeles classification) and compliance to biopsy protocols (e.g. Seattle protocol). Quality score of diagnostic UGI endoscopies performed in adult patients before (control group) and after (intervention group) the training were compared. Primary endpoint was the overall quality score, defined as percentage of the maximum score (per item: 2 points for full compliance, 1 point for partial compliance and 0 points for no compliance).

Results

Of 1,733 consecutive UGI endoscopies, 570 were eligible for inclusion: 285 in the control group and 285 in the intervention group. Median patient age was 63 y/o (IQR 51-71) with 47% males. The overall quality score increased from 58% to 65% after the training intervention (p<0.001). When comparing control group vs. intervention group, inspection time of ≥7 minutes was achieved in 19% vs. 26%, photodocumentation was complete in 33% vs. 60%, standardized terminology was correctly used in 85% vs. 90% and biopsy sampling compliance was 41% vs. 41%, respectively.

Conclusion

Adherence to the ESGE quality standards for UGI endoscopy increased after a 1-hour training. This suggests that a simple training intervention improves quality of UGI endoscopy and potentially could prevent missing lesions.