搜索结果：ACG case reports journal

Immune checkpoint inhibitors such as pembrolizumab are increasingly used in cancer therapy, yet immune-related adverse events like immune-mediated liver injury from checkpoint inhibitors remain challenging to diagnose and manage. Most cases arise early in treatment and respond to corticosteroids, but rare delayed or refractory presentations have been described. We report a unique case of delayed-onset, steroid-refractory immune-mediated liver injury from checkpoint inhibitors requiring escalation of therapy despite prolonged discontinuation of the causative agent, highlighting the need for continued vigilance and individualized management strategies in patients receiving immune checkpoint inhibitors.

Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare, potentially life-threatening hypersensitivity reaction that manifests with a spectrum of cutaneous and systemic involvement. We present an unusual case of DRESS in a 26-year-old man with markedly elevated liver enzymes and hyperbilirubinemia but relatively limited skin activity. The patient had a recent diagnosis of human immunodeficiency virus infection and was treated with trimethoprim-sulfamethoxazole for Pneumocystis jirovecii pneumonia and bilateral pneumothoraces. This case emphasizes the importance of maintaining a high clinical suspicion for DRESS in patients presenting with elevated liver enzymes and skin rash.

Severe gastrointestinal bleeding is a rare but potentially fatal complication of Crohn's disease (CD). In the literature, there are some previously described cases, but there are no clear guidelines on how to manage these patients. We present the case of a patient with ileal CD and previously unknown hemophilia A. The patient experienced 2 episodes of massive intestinal bleeding, the last one requiring surgery. The disease proved difficult to treat with extension to upper gastrointestinal tract, despite being on biological therapy. In addition, diagnosis of coagulation disorders as hemophilia in patients with CD is rare but potentially catastrophic, requiring prepared multidisciplinary teams.

Esophageal squamous papillomatosis (ESP) occurs when multiple benign papillomas grow from the esophageal epithelium. ESP is considered exceedingly rare, and to the best of our knowledge, only 53 cases have been reported. Thus, there is no consensus on the optimal management of ESP. In efforts to contribute to the literature on ESP, we present a severe case of ESP managed with endoscopic liquid nitrogen spray cryotherapy and serial dilation.

Hepatic encephalopathy (HE) is often inadequately managed by standard therapies (lactulose and/or rifaximin). This case series presents 5 patients with decompensated cirrhosis and HE who received tenapanor (50 mg once or twice daily) due to inadequate response to standard therapies. Outcomes included bowel movement frequency, HE symptom improvement, and safety. Four patients showed improved bowel frequency, stool consistency, and HE severity. HE recurred in 3 patients after discontinuation. Tenapanor was well-tolerated, with mild, self-resolved dehydration in one case. Patients preferred tenapanor for taste and dosing convenience over lactulose. The findings suggested that tenapanor may alleviate HE with high safety and compliance.

Immune checkpoint inhibitors are associated with immune-related adverse events, including immune-mediated hepatitis, while acute acalculous cholecystitis remains exceedingly rare. We report a 52-year-old man with metastatic melanoma who developed concurrent grade 3 immune-mediated hepatitis and acute acalculous cholecystitis 2 weeks after combination ipilimumab-nivolumab therapy. He presented with right upper quadrant pain, jaundice, and marked transaminitis. Imaging showed gallbladder wall thickening with pericholecystic fluid without cholelithiasis, and alternative etiologies were excluded. The patient improved with conservative management without corticosteroids, with complete symptom resolution and biochemical normalization. This case highlights a rare dual hepatobiliary immune-related toxicity and the potential for conservative management in selected patients.

Cytomegalovirus (CMV) reactivation is a clinically important risk in patients with inflammatory bowel disease, particularly those receiving systemic immunosuppression or Janus kinase (JAK) inhibitor therapy, which can impair immunity. JAK inhibitors, including upadacitinib, may predispose patients to opportunistic viral infections. We report a patient with moderate ulcerative colitis who developed CMV viremia with suspected CMV pneumonitis 4 weeks after starting upadacitinib. Antiviral therapy led to clinical and virologic resolution. This case broadens the spectrum of CMV-related complications associated with JAK inhibition and underscores the importance of maintaining vigilance for systemic viral reactivation in inflammatory bowel disease patients receiving immunosuppressive therapy.

A 65-year-old man with a history of idiopathic gastroparesis underwent successful gastric peroral endoscopic myotomy (G-POEM) with simultaneous transpyloric stenting with complete symptom resolution and normalization of Gastroparesis Cardinal Symptom Index with long-term relief. There are currently no data on the concurrent use of these 2 endoscopic techniques. Through this case, we postulate that transpyloric stenting alters the natural healing of the myotomy, preventing fibrosis and restenosis of the gastric outlet, increasing efficacy and long-term durability of G-POEM.

Essential thrombocythemia (ET) is a myeloproliferative neoplasm characterized by elevated platelet counts and risks of both thrombosis and bleeding. Acquired von Willebrand disease is a rare complication of ET, particularly in extreme thrombocytosis. We report a 32-year-old man diagnosed with ET, acquired von Willebrand disease, and autoimmune gastritis with vitamin B12 deficiency. He presented with marked thrombocytosis (1,340 × 109/L), reduced von Willebrand factor activity, low vitamin B12 levels, and positive parietal cell antibodies, but remained asymptomatic. The coexistence of these 3 conditions is rarely reported and may represent a form of beneficial autoimmunity, in which autoimmune phenomena paradoxically confer protective effects against thrombotic complications.

Drug-induced pancreatitis accounts for a small percentage of acute pancreatitis cases, and supplement-induced cases are poorly characterized. We report a 59-year-old woman presenting with acute interstitial pancreatitis after recent initiation of an over-the-counter supplement containing chromium polynicotinate and herbal additives. She lacked traditional risk factors, and imaging showed no biliary disease. Lipase exceeded 3000 U/L, and serum chromium was elevated (0.5 ng/mL). Symptoms improved with supportive care and supplement discontinuation. This case suggests a potential association between chromium-containing supplements and pancreatitis, highlighting the need for thorough supplement histories in idiopathic cases and greater awareness of possible pancreatic toxicity from nutraceuticals.

Pancreatic ductal adenocarcinoma (PDAC) is the third leading cause of cancer-related mortality in the United States, with a 5-year survival of ∼10%-13%. Although 5%-10% of PDAC cases arise from pathogenic germline variants in cancer-predisposition genes, association with RAD51C remains exceedingly rare, with only one prior case reported. We describe a 64-year-old woman who presented with progressive epigastric pain and was found to have a hypermetabolic pancreatic head mass with markedly elevated CA 19-9. Endoscopic biopsy confirmed pancreatic adenocarcinoma (MSI-stable, HER2-negative), staged as cT2N0M0. Comprehensive germline testing identified a pathogenic RAD51C mutation. The patient declined treatment and genetic counseling, electing for palliative care. RAD51C plays a critical role in homologous recombination DNA repair, and its loss may confer sensitivity to platinum-based chemotherapy and poly (ADP-ribose) polymerase inhibitors. This case represents only the second reported RAD51C-associated PDAC and reinforces the importance of universal germline testing to identify hereditary risk and guide therapeutic strategies.

Duodenal-type follicular lymphoma (FL) is a rare extranodal variant of FL that is typically diagnosed incidentally and follows an indolent course. Most cases demonstrate BCL2 overexpression and the t(14;18) translocation. We report a rare case of BCL2-negative duodenal-type FL identified on surveillance endoscopy following eradication of Helicobacter pylori-associated lymphoid hyperplasia. Persistent duodenal nodularity prompted repeat biopsy, revealing grade 1-2 FL lacking BCL2 rearrangement on fluorescence in situ hybridization. Staging evaluation confirmed localized disease with a low Follicular Lymphoma International Prognostic Index score, and active surveillance was pursued. This case highlights an important diagnostic pitfall and underscores the need for repeat endoscopic evaluation, staging assessment, and comprehensive morphologic, immunophenotypic, and molecular analysis when duodenal lymphoid lesions persist despite treatment of inflammatory conditions.

Caustic ingestions are a common cause of injuries to the upper gastrointestinal (GI) tract, most notably the esophagus and stomach. Severity of injury is affected by the nature of the substance, the amount or concentration of the substance, and the duration of direct contact with the mucosa. Typically, cases of caustic ingestion occur more frequently in pediatric patients and in those with psychiatric comorbidities and/or those attempting suicide. Currently, there are no cases in which potassium thiocyanate ingestion resulting in GI sequelae has been reported. We present the first case of caustic mucosal injury to the upper GI tract after potassium thiocyanate ingestion.

Gastric hyperplastic polyps are often discovered unexpectedly during endoscopy, usually arising in the antrum. Polypectomy is recommended when findings such as size >1 cm, dysplasia, ulceration, or iron deficiency anemia are present. We report a rare case of osseous metaplasia in a pyloric polyp causing obstructive symptoms that resolved following polypectomy, including early satiety, abdominal pain, and bloating. Fewer than 10 cases of osseous metaplasia in gastric polyps have been reported, and limited data suggest it is benign. This case describes potential predisposing factors, summarizes proposed mechanisms, and emphasizes the need for further research to clarify clinical significance and formal management.

Autoimmune hepatitis (AIH) is commonly associated with extrahepatic autoimmune diseases. We discuss the challenges in managing a novel case of seronegative AIH occurring simultaneously with Graves disease and immune thrombocytopenia. Diagnosis was complicated by severe thrombocytopenia delaying liver biopsy and the challenge of managing thyrotoxicosis with antithyroid medications in the setting of acute hepatitis. We were able to safely perform transjugular liver biopsy to confirm AIH, after platelet transfusion. AIH and immune thrombocytopenia were treated with intravenous glucocorticoids, and hyperthyroidism was managed with graded escalation of carbimazole. This case highlights practical strategies for the diagnosis and management of concurrent autoimmune conditions with competing risks.

Plummer-Vinson syndrome (PVS) is a constellation of symptoms associated with iron deficiency anemia, esophageal web formation, and squamous cell cancer, typically of the esophagus and pharynx. PVS has rarely been associated with gastric cancer. We report a case of a 59-year-old man found to have PVS with gastric mucosa-associated lymphoid tissue lymphoma, an association to our knowledge not previously described in the literature. This case expands the spectrum of malignancies that may be encountered in patients with PVS and highlights the importance of thorough evaluation for malignancy in patients presenting with iron deficiency anemia.

Bile duct and pancreatic duct join as a single orifice at ampulla of Vater. Anomalous rotation or recanalization of hepatopancreatic ducts during embryogenesis can lead to anatomical variations of ampulla of Vater. One such anatomical variation is double major papilla with dual ampullary orifices for bile and pancreatic duct, the incidence of which is exceedingly rare. Identification and early recognition of such variations before initiating cannulation can prevent inadvertent pancreatic duct cannulation. We report a case of 78-year-old man with chronic calcific pancreatitis with choledocholithiasis, found to have dual ampullary orifices. Selective cannulation was performed for each duct followed by stenting without any complications. This case emphasizes that knowledge and awareness of such rare ampullary variations can prevent inadvertent pancreatic duct cannulation.

An anastomotic stricture is a frequent adverse outcome in patients with a Roux-En-Y hepaticojejunostomy. The patient described in this article developed a complicated hepato-jejunal anastomotic stricture with intrahepatic stones that could not be treated with standard balloon enteroscopic interventions due to a very long Roux limb. Thus, a duodenojejunostomy was created to allow access to the stricture and manage the intrahepatic stones. In this case, we convened a multidisciplinary panel of radiologists, surgeons, and interventional endoscopists to consider various therapeutic approaches. The various options were discussed with the patient as part of patient-centered medical decision-making. This patient case highlights the evolving and expanding role of endoscopic ultrasound-directed transenteric interventions for obtaining durable luminal access in patients with altered foregut anatomy, thus providing another avenue for therapeutic interventions which avoid surgery and associated morbidity.

Inferior vena cava syndrome (IVCS) is an infrequent but potentially life-threatening condition resulting from obstruction of the inferior vena cava (IVC), leading to impaired venous return. Hepatic vena cava syndrome is a rare cause of IVCS. We report the case of a 58-year old man with a complex medical and surgical history who presented with abdominal pain and distension. He had cirrhosis of the liver with moderate ascites, and diagnostic paracentesis confirmed spontaneous bacterial peritonitis. The patient developed refractory hypotension requiring vasopressors, encephalopathy, and hypoxic respiratory failure necessitating mechanical ventilation. Imaging revealed severe focal stenosis of the subdiaphragmatic IVC with preserved hepatic and portal venous patency, raising concern for IVCS. The patient underwent interventional radiology-guided percutaneous transluminal balloon angioplasty of the stenotic segment of the IVC, resulting in prompt improvement in hemodynamic status. This case highlights IVCS as an under-recognized cause of obstructive shock and underscores the importance of prompt recognition and endovascular intervention to avert morbidity and mortality in this subset of patients.