Clinical Case Summary

A 37-years-old lady was referred to our facility with a 2 weeks history of spontaneous bruising. Did not report fatigue or gastrointestinal symptoms. Not on any regular medications and has a negative past medical history. Clinical examination was unremarkable apart from several bruises over the lower limbs and torso. Her routine laboratory work up was unremarkable apart from thrombocytopaenia, hypofibrinoginaemia, marked prolongation of prothrombin time (PT) and partial thromboplastin time (PTT) in keeping with disseminated intravascular coagulopathy (DIC). Computerised tomography of her neck, chest, abdomen and pelvis which showed suspicious diffuse thickening of the gastric wall with supra- and infra-diaphragmatic lymphadenopathy and omental nodules. These findings were suspicious of linitis plastica (LP). Her gastroscopy showed thickened gastric folds but no mucosal abnormalities. Histology confirmed poorly differentiated adenocarcinoma with extracellular mucin and some signet ring cells. Molecular testing showed mismatch repair (MMR) proficiency and HER-2 negative tumour. She was requiring extensive blood products support to control her DIC. Decision was made to commence her on 5-fluorouracil and oxaliplatin. In the view of . This has resulted in remarkable improvement in her clotting parameters with reduction in blood products requirements. It is important to highlight that acute DIC in the context of LP is a poor prognostic indicator. Most patients die within 1-4 weeks of presentation [1,2]. This case also proves that early initiation of chemotherapy was the only way to control her DIC and thrombocytopaenia. Based on literature review, infusional 5-FU is an effective chemotherapy with minimal myelosuppression and it may represent a good choice of initial chemotherapy in such patients [3]. Her clotting PT, PTT, fibrinogen and platelets have normalised and she was discharged safely and scheduled for outpatient chemotherapy.

References

1. Pasquini E, Gianni L, Aitini E, et al. Acute disseminated intra-vascular coagulation syndrome in cancer patients. Oncology 1995; 52(6):505–8.
2. Yeh KH, Cheng AL, Gastric cancer associated with acute disseminated intravascular coagulation: successful initial treatment with weekly 24-hour infusion of high-dose 5-fluorouracil and leucovorin. Br J Haematol 1998;100(4):769–72.
3. Margarita Tokar, Dmitri Bobilev, et al. Disseminated Intravascular Coagulation at Presentation of Advanced Gastric Cancer. IMAJ 2006;8:853–855.

Clinical Case Summary

A 64-year-old male patient presented with acute epigastric pain over 7 days, worsening after meals, nausea, vomiting 2 times without signs of bleeding, diarrhea 5-6 times/day, high blood pressure 180/100 mmHg. He had a 6-year history of recurrent epigastric pain, after multiple EGDSs was diagnosed as gastric ulcer and atrophic gastritis. The patient had undergone HP eradication and received standard anti-ulcer therapy several times, with no clinical improvement. On physical examination, the patient appeared pale. The abdomen was soft, without pain, guarding or rebound tenderness. The patient's medical history was significant for arterial hypertension. Lab abnormalities included WBC 16.32-10x10⁹/L, ESR 94mm/sec, CRP at 184.3 mg/L, FBG 767 mg, Total protein 50.9 g/L, CREA 147 mmol/L, Urea 13.42 mmol/L, Na 129 mmol/L. Intestinal infections were negative. New EGDS revealed an ulcerative lesion with 0.8cm diameter, in the region from antrum to greater curvature, covered with fibrin. Colonoscopy was normal. Duplex ultrasound revealed a 70% stenosis of the celiac trunk and superior mesenteric artery, with atherosclerotic wall deformation and intima-media thickening. A thrombosis was detected in the region of the aortic bifurcation. CT angiography revealed up to 70% stenosis of the suprarenal abdominal aorta, no contrast enhancement was observed in the origins of the celiac trunk, superior mesenteric artery, left renal artery (left kidney appeared atrophic), total occlusion of bilateral common, external, and internal iliac arteries.
Conclusion: Gastric ulcers are mostly associated with HP. However, in rare cases, underlying vascular pathology may be critical in their pathogenesis. This case highlights an overlooked cause of gastric ulcers, particularly in patients with atherosclerotic risk factors. In patients with persistent symptoms despite medical therapy ischemic ulceration should be included in the differential diagnosis.

Clinical Case Summary

A 57-year-old woman known to have a left breast invasive ductal carcinoma, presented to the emergency department for epigastric pain, coffee ground emesis and anorexia. Her cancer was treated eight years ago with mastectomy and lymph node dissection, followed by radiotherapy and adjuvant chemotherapy. Immunohistochemical staining of the breast cancer showed an Estrogen Receptor positive, Progesterone Receptor positive, and Her2 negative breast cancer with two positive lymph nodes.
At presentation, patient was stable. Physical exam was normal except for epigastric abdominal tenderness upon palpation. Laboratory tests were normal except for mild electrolytic disturbances suggestive of malnutrition and dehydration. CT scan with IV contrast injection showed thickened gastric walls requiring further evaluation by gastroscopy, with innumerable enlarged mesenteric lymph nodes and minimal amount of fluid in the Douglas pouch.
A gastroscopy showed normal esophageal mucosa, congestive fundic and antral mucosa, micro erosive and indurated appearance of pylorus with stenosis. Biopsy showed gastric mucosa infiltrated by signet-ring cells consistent with infiltration by adenocarcinoma of mammary origin. Hormone receptors are negative with Her2 score of 0. (figure)

Figure: A: Gastric mucosa with infiltration of the lamina propria by adenocarcinoma. B: Independent signet-ring cell proliferation. Positive staining with GATA3 (C) and negative staining with CDX2 (D).

The patient was thus diagnosed with metastatic triple negative breast cancer with gastric involvement in the form of linitis plastica. Subsequently, she was treated with Adriamycin and Carboplatin.
In conclusion, this case showed linitis plastica as a metastatic recurrence of a previously localized invasive ductal carcinoma treated 8 years earlier. The originality of this case report not only relies on the rarity of late breast cancer relapse in the form of linitis plastica (1), but also it’s rare association with the invasive ductal subtype (2).

References

1. Kimchy AV, Umoren MD, Rosenberg JJ, Ilagan C, Nithagon P, Shafa S, et al. Breast Cancer Metastasis to the Gastrointestinal Tract With Unusual Endoscopic and Histologic Presentations. ACG Case Rep J. 2022 Dec;9(12):e00938.

2. Taal BG, Peterse H, Boot H. Clinical presentation, endoscopic features, and treatment of gastric metastases from breast carcinoma. Cancer. 2000;89(11):2214–21.

Clinical Case Summary

A 74-year-old male presented in November 2022 with abdominal distension, mild anemia, recurrent oral aphthae, and alternating diarrhea and constipation. A 2021 colonoscopy was normal. Enterotomography revealed two segments of irregular parietal thickening in the distal ileum. Repeated colonoscopy confirmed thickened distal ileum with ulcerations. Biopsies identified chronic active ileitis without granuloma; stains for fungi and acid-fast bacillus were negative.
A presumptive diagnosis of Crohn’s disease was made, and azathioprine and prednisone were initiated. In March 2023, the patient developed ileal perforation requiring urgent right ileocolectomy with ileostomy. On follow-up endoscopies, gastric ulcer with unremarkable histopathology and perianastomotic Rutgeerts i2 recurrence were identified, and infliximab was initiated.
In January 2024, patient complained of intense cervical odynophagia and new genital and oral ulcers. Endoscopy showed an ulcer on the aryepiglottic fold, while biopsy of the genital lesion revealed erosive chronic inflammation with fibrinoleukocytic exudate and positive C3c immunofluorescence.
In March 2024, methotrexate and colchicine were initiated for suspected Behçet’s disease, with incomplete improvement of oral ulcers, and a trial of thalidomide 100mg qd was performed with adequate clinical control. A December 2024 endoscopy was normal, and colonoscopy showed only minimal erosions in the blind loop. Patient remained clinically well, with clinical remission.
This case highlights an uncommon presentation of Behçet’s disease (BD). While gastrointestinal involvement is well-documented in BD, the onset in advanced age, as well as initial diagnosis as Crohn’s disease, posed a diagnostic dilemma. The development of oral, genital, and laryngeal ulcers, along with positive C3c and clinical response to colchicine supported the diagnosis. Differentiating BD from Crohn’s disease is critical due to implications for management and prognosis.

References

Image 1: endoscopic image of ileal ulcerations.
Image 2: endoscopic image of the ulceration on the aryepiglottic fold
Image 3: image of tongue ulceration

Introduction

Symptoms of dysphagia are common in the community and younger patients may not be referred for endoscopy if symptoms are not suggestive of malignancy. We have examined the management of patients under 50 with dysphagia in primary care.

Aims & Methods

Retrospective study using primary care data (Clinical Practice Research Datalink AURUM) linked to hospital admission data (Hospital Episode Statistics) between 2010 and 2022. All patients 18-50 years presenting in primary care with dysphagia or food bolus obstruction were studied. Patients with upper gastrointestinal (UGI) cancers were excluded. Referral rates for OGD and biopsy and proton pump inhibitor (PPI) prescription were examined. Patient level factors associated with referral rates within 1 year of symptom onset and PPI prescription within 30 days of a symptom record in primary care were studied using Robust Poisson regression models.

Results

Of 59,878 symptomatic patients, 98.2% had dysphagia and 1.8% had food bolus obstruction (median age 39 (IQR 30-46) years; 57.7% female). 7871 (3.2%) patients with UGI cancer were excluded. Of 696 diagnosed eosinophilic oesophagitis patients (1.2%), 92% presented with dysphagia and 8% with food bolus obstruction. 12,341 (21%) of patients with dysphagia and 248 (23.6%) of patients with FBO were not referred for endoscopy or gastroenterology assessment and simply prescribed a PPI.
Factors associated with not being referred included: younger age adjusted relative risk 0.62,95% CI 0.61-0.64, comparing 47-50 years (4^th quartile) to 18-30 (1^st quartile); black ethnicity 1.06,1.03-1.09; and PPI prescription 1.09, 1.08-1.11. Factors associated with PPI prescription after dysphagia presentation included: increasing age adjusted relative risk 1.66, 1.60-1.73, comparing 47-50 years (4^th quartile) to 18-30 (1^st quartile); increasing deprivation 1.05, 1.01-1.10; smoking 1.05, 1.01-1.08; obesity 1.22, 1.18-1.26; and asthma 1.13, 1.10-1.16.
Factors associated with not being referred for food bolus obstruction included: black ethnicity 1.35, 1.16-1.58; a history of atopy 1.20,1.08-1.32; and PPI prescription 1.43, 1.31-1.56. Endoscopy was performed in only 33% of patients with a FBO presentation in primary care, of which 62% had oesophageal biopsies taken.

Conclusion

In patients <50 presenting in primary care, 66% of food bolus obstruction and 67% of dysphagia patients were not referred for endoscopy despite risk factors for eosinophilic oesophagitis including atopy or asthma, representing a missed opportunity to diagnose eosinophilic oesophagitis. 24% of food bolus obstruction and 21% of dysphagia patients were just treated with a PPI without further investigation.

Clinical Case Summary

A 27-year-old female affected by of axonal polyneuropathy presented to our center with a 36 months history of progressive dysphagia and weight loss. High Resolution Manometry (HRM), timed barium esophagram, and esophagogastroduodenoscopy (EGD) were coherent with the diagnosis of type II Achalasia. Eckardt score was 8. Peroral Endoscopic Myotomy (POEM) was successfully performed. The procedure included an anterior, selective circular, 9cm myotomy and lasted 25 minutes. No adverse events were recorded. At the 6-month follow-up, the patient had gained 11 kg (BMI 18,7) and had no dysphagia or GERD symptoms. At HRM, 4sIRP was 0.9 mmHg. At EGD and 24-h pH-monitoring study were negative for GERD.5 years later the patient was asymptomatic, but a Los Angeles-Grade B esophagitis was diagnosed. Esomeprazole 40mg once daily was prescribed.During the follow-up, patient was diagnosed with Charcot-Marie-Tooth disease, variant 2F; a mutation in HSPB1 gene (c.570G>C variant) was found. Patient is currently receiving physiotherapy with partial control of neurological symptoms.This is the first case described in literature of a patient with both Charcot-Marie-Tooth disease and Achalasia .Clear associations between achalasia and CMT disease are far to be identified and clarified. Notwithstanding both disorders are caused by a neuronal damage and degeneration, known pathophysiological pathways differ substantially in the two diseases, making the case of our patient more likely a purely casual association of rare diseases than a complex syndrome.Nevertheless, previous small cohort studies suggested higher prevalence of neurodegenerative disease in patients with achalasia than in general population. These results warrant confirmation in large population-based study. However, being etiopathology of achalasia largely unknown, further investigations of possible shared pathophysiologic traits may help to better understand this disease and might lead to a change in its treatment paradigm.

References

1. Savarino E, et al. Achalasia. Nat Rev Dis Primers. 2022 May 5;8(1):28. doi: 10.1038/s41572-022-00356-8. PMID: 35513420.
2. Inoue H, et al. Peroral endoscopic myotomy for esophageal achalasia: technique, indication, and outcomes. Thorac Surg Clin. 2011 Nov;21(4):519-25. doi: 10.1016/j.thorsurg.2011.08.005. PMID: 22040634.
3. Evgrafov, et al. 2004. Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy. Nat. Genet. 36, 602–606
4. Taga A, et al. A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature. J Peripher Nerv Syst. 2020 Sep;25(3):223-229. doi: 10.1111/jns.12395. Epub 2020 Jul 8. PMID: 32639100.
5. Jerie M, et al. Prevalence of neurodegenerative/demyelinating disorders in patients with achalasia. Transl Neurosci. 2022 Oct 10;13(1):361-368. doi: 10.1515/tnsci-2022-0249. PMID: 36304096; PMCID: PMC9552774.
6. Khoury ST, et al. The possible association between neurodegenerative/demyelinating neurological disorders in achalasia patients. Transl Neurosci. 2022 Dec 31;13(1):514-515. doi: 10.1515/tnsci-2022-0269. PMID: 36660005; PMCID: PMC9816455.

Disclosure

The authors declare that they have no conflict of interest.

Clinical Case Summary

A 45 y/o female patient complained from fatigue and dyspnea, her CBC showed MHA (Hb 6.5 g/dl, MCV 62 fl/cell) with normal WBCs and PLTs and she denied any apparent bleeding or menstrual abnormalities. Upon investigating, her virology profile was negative, she had +ve FOB, low levels of iron (25.6 ug/dl), low ferritin (10.3 ng/ml) and high Reticulocyte count (3.5%). She underwent upper and lower GI endoscopies without significant findings. She received packed RBCs to correct her general condition but the symptoms recurred. Repeated upper and lower endoscopies didn’t show any source of bleeding. Capsule enteroscopy was ordered and showed multiple red spots, dilated vessels and small varices. We thought of angiodysplasia so we ordered CT enterography but the scan couldn’t detect vascular abnormalities in small intestinal wall and showed an aneurismal dilation at portal vein confluence (3x3.7cm) along with dilated both portal vein and splenic vein. The interventional radiology team described the aneurysm as fusiform not saccular, so it wasn’t suitable for coiling and embolization.
Portal vein aneurysm (PVA) was discovered incidentally in this case. The turbulence of the portal blood flow is believed to be causing congestion in the drained intestinal segments. As a result, we found the described spots and dilated vessels in the jejunum. DBE was suggested to apply APC to the telangiectatic spots, but this won’t address the dilated veins that’s why we preferred consulting intervention radiology to deal with both the intestinal lesions and the aneurysm itself as the main cause of this condition, but unfortunately no definitive intestinal lesions were seen in the angiography CT and the aneurysmal anatomy wasn’t suitable for intervention, also endovascular surgical consultation declined the portal vein reconstruction possibilities due to the difficulty and procedural risks. We advised the patient to continue on supportive treatment and blood transfusion when needed.

References

Kurtcehajic, A., Zerem, E., Alibegovic, E., Kunosic, S., Hujdurovic, A. and Fejzic, J.A., 2023. Portal vein aneurysm-etiology, multimodal imaging and current management. World Journal of Clinical Cases, 11(4), p.725.