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Unmasking Iron Overload: Alcohol-related Cirrhosis in a Patient with Heterozygous HFE (Homeostatic Iron Regulator) Mutation A. Anusha, K. Premkumar Institute of Medical Gastroenterology, Madras Medical College, Chennai, Tamil Nadu, India Background: Hereditary hemochromatosis is classically associated with homozygous HFE gene mutations, whereas heterozygous mutations are usually considered non-pathogenic. Anemia is uncommon in hemochromatosis, as iron overload typically leads to normal or elevated haemoglobin levels. Secondary factors such as chronic alcohol consumption, however, may significantly alter iron metabolism and hepatic injury patterns. Case Presentation: A 46-year-old male from Thiruvannamalai presented with insidious onset, gradually progressive upper abdominal discomfort for 4 months. He was a known diabetic on insulin therapy with a history of chronic alcohol consumption (approximately 56 g/day for 15 years), having abstained for 5 months. He had received blood transfusions from the nearby hospital for anemia. Examination revealed pallor, hyperpigmentation over the palms of both hands, firm non-tender hepatomegaly and moderate splenomegaly. Laboratory evaluation showed pancytopenia. Serum ferritin was markedly elevated (2000 ng/mL) with a transferrin saturation of 2.49%. Contrast-enhanced computed tomography (CECT) abdomen demonstrated hepatosplenomegaly with multiple portosystemic collaterals. Magnetic resonance imaging liver iron quantification revealed mild hepatic iron overload (T2 × 11 ms). Liver biopsy showed established cirrhosis with focal ductular proliferation and intracytoplasmic hemosiderin deposition, along with focal hepatocyte ballooning. Upper gastrointestinal endoscopy revealed two Grade 3 esophageal varices, which were managed with endoscopic variceal ligation. Whole-exon sequencing identified a heterozygous HFE gene mutation. The anemia was attributed to hypersplenism secondary to portal hypertension. In view of anaemia, the patient was initiated on oral deferasirox. Conclusion: This case highlights the synergistic role of chronic alcohol intake in precipitating cirrhosis and iron overload in a patient with a heterozygous HFE mutation. The presence of hypersplenism-related anemia, a rare finding in hemochromatosis, further adds to the diagnostic complexity and clinical interest of this case. Keywords: Alcohol-related liver disease, HFE heterozygosity, hypersplenism, iron overload Beyond Malignancy: An Unusual Cause of Large Gastric Ulcer Arun AC, Jenish Rajma1, Rithi Preetha Department of Gastroenterology, Lily Mission Hospital, 1Department of Pediatrics, All India Institute of Medical Sciences, Madurai, Tamil Nadu, India Introduction: Large gastric ulcers with elevated margins and necrotic bases pose significant diagnostic challenges. We present a case where endoscopic findings strongly suggested malignancy, yet histopathology revealed an unexpected etiology. Case Presentation: A 65-year-old male presented with acute melena and severe anemia (hemoglobin 5.0 g/dL) requiring two-unit blood transfusion. He reported 1 month of intermittent abdominal pain and occasional proton pump inhibitor use for gastritis. Past medical history was unremarkable with no significant comorbidities. Upper gastrointestinal endoscopy demonstrated alarming features: a 4 cm × 4 cm fundal ulcer with elevated margin and necrotic base, an adjacent 1 cm × 2 cm ulcer, and circumferential pyloric ulceration causing luminal narrowing. Computed tomography abdomen revealed gastric wall thickening without lymphadenopathy. Based on endoscopic appearance, provisional diagnosis favored gastric adenocarcinoma or lymphoma, and multiple biopsies were obtained. Histopathological examination showed ulceration with granulation tissue and extensive fungal elements, including pseudohyphae and yeast forms, infiltrating the gastric mucosa. Immunohistochemistry systematically excluded malignancy: Cytokeratin, cluster of differentiation 3, paired box gene 5, and Synaptophysin were all negative. The final diagnosis was invasive gastric candidiasis. This unexpected finding prompted a comprehensive evaluation of predisposing factors. Detailed workup excluded diabetes mellitus, HIV infection, tuberculosis, malignancy, and steroid use. The patient was not on chemotherapy or other immunosuppressive medications, making this a rare presentation of primary gastric candidiasis without identifiable risk factors. Management: Intravenous fluconazole 400 mg once daily for 3 days followed by oral fluconazole for 15 days resulted in significant clinical improvement. Follow-up endoscopy at 2 months showed a marked reduction to a 1 cm × 1 cm healing ulcer. Repeat endoscopy at 4 months demonstrated complete ulcer resolution with only residual corpus gastritis and erosions. Hemoglobin improved to 10.6 g/dL with no symptom recurrence. Conclusion: Gastric candidiasis, though rare, should be considered in the differential diagnosis of large gastric ulcers even in the absence of typical predisposing factors. This case highlights the critical role of histopathological examination in preventing misdiagnosis and demonstrates that antifungal monotherapy can achieve excellent outcomes in extensive gastric fungal infections. Keywords: Antifungal therapy, diagnostic challenge, gastric ulcer, histopathology, melena Autoimmune Hepatitis-primary Biliary Cholangitis Overlap Syndrome: A Rare Cause of Jaundice Arun AC, Jenish Rajma1, Rithi Preetha Department of Gastroenterology, Lily Mission Hospital, 1Department of Pediatrics, All India Institute of Medical Sciences, Madurai, Tamil Nadu, India Background: Overlap syndrome, characterized by concurrent features of autoimmune hepatitis (AIH) and primary biliary cholangitis (PBC), represents a diagnostic and therapeutic challenge, occurring in 5%–10% of autoimmune liver disease patients. Case Presentation: A 43-year-old female with hypothyroidism and rheumatoid arthritis presented with generalized weakness and fatigue. Laboratory investigations revealed hepatocellular and cholestatic enzyme elevation (aspartate aminotransferase 233 IU/L, alanine aminotransferase (ALT) 289 IU/L, alkaline phosphatase (ALP) 385 IU/L, and total bilirubin 1.8 mg/dL). Autoimmune workup demonstrated positive antinuclear antibody (1:1280), positive smooth muscle antibody, strongly positive anti-mitochondrial antibody M2 (AMA-M2), and elevated immunoglobulin G (16.8 g/L). Liver biopsy showed moderate portal inflammation, interface hepatitis, severe ductopenia, and perivenular cholestasis. The patient fulfilled Paris criteria for overlap syndrome: AIH features included ALT 5.8× ULN, positive smooth muscle actin, and interface hepatitis; PBC features included ALP 2.6× Upper limit of normal, positive AMA-M2, and florid ductopenia. Management and Outcome: Treatment with ursodeoxycholic acid (13–15 mg/kg/day), prednisolone (30 mg daily), and azathioprine (50 mg daily) resulted in clinical and biochemical improvement. At 6-month follow-up, aminotransferases normalized with symptom resolution. The patient maintains normal liver enzymes at 1-year follow-up on ursodeoxycholic acid and azathioprine maintenance therapy. Conclusion: This case emphasizes the importance of considering AIH-PBC overlap syndrome in patients with autoimmune disorders presenting with abnormal liver function tests. Paris criteria facilitate accurate diagnosis through comprehensive serological and histopathological assessment. Early initiation of combination immunosuppression with ursodeoxycholic acid provides effective disease control and prevents progression to cirrhosis. Keywords: Autoimmune hepatitis, overlap syndrome, Paris criteria, primary biliary cholangitis, ursodeoxycholic acid Sarcoidosis Unmasked: When Fever and Cholestasis Collide S. Ashok, T. Ravishankar, V. Arulselvan, S. Raja1, Senthil Vadivu Department of Medical Gastroenterology, Coimbatore Medical College, Coimbatore, Tamil Nadu, India Background: Granulomatous hepatitis is an uncommon cause of cholestatic liver disease and may present a diagnostic challenge, particularly in patients with systemic symptoms and lymphadenopathy. Differentiating between infectious, infiltrative, and inflammatory etiologies is for Case Presentation: We a female with a history of and 2 of abdominal and was a known case of diabetes mellitus, systemic and chronic examination revealed pallor, and Laboratory evaluation showed elevated inflammatory with normal complete blood Liver function revealed a cholestatic with normal elevated alkaline phosphatase and markedly The was and Computed of the abdomen demonstrated hepatomegaly with lymphadenopathy. revealed included tuberculosis, and Autoimmune including antinuclear antibody and antibody was whereas enzyme were elevated tomography showed and of Liver biopsy demonstrated hepatitis; was negative. Management and Outcome: The patient was with oral along with azathioprine to significant clinical and reduction in cholestatic liver Conclusion: This case highlights hepatitis as a rare hepatic of and the importance of liver biopsy in patients with cholestatic liver disease and systemic Early immunosuppressive therapy can in and of and in at a Department of Medical Institute of Medical and Coimbatore, Tamil Nadu, India Introduction: hepatitis represents a severe moderate as for a of patients on the clinical and outcomes of in the is a to the of and in patients with and in patients with moderate and of acute hospital and the role of alcohol in outcomes of moderate with where included with moderate and severe at a and were were followed for days to and A total of patients were included in the The was and the showed a marked male cirrhosis was present in of patients. At was in hepatic in and acute injury in a significant of severe patients reported alcohol consumption, were in patients with severe was and in patients with hepatic acute and requiring were and were to liver disease Conclusion: liver disease with alcohol use and cirrhosis. presentation with hepatic acute and was and associated with significant Early risk and are to Keywords: hepatitis, moderate hepatitis, severe hepatitis with Department of Medical Gastroenterology, Medical College, Chennai, Tamil Nadu, India esophageal and in present a diagnostic challenge, as be systematically to esophageal and gastrointestinal We an case of a male presented with disease and was to a cm esophageal with ulceration for esophageal including endoscopic computed tomography and was to the and Immunohistochemistry endoscopic revealed strongly positive smooth muscle and cluster of differentiation on and the diagnosis of and and This case the critical importance of evaluation of in highlights the diagnostic of imaging in esophageal malignancy, demonstrates the role of in and endoscopic as a and effective for esophageal Keywords: esophageal Beyond clinical and of S. Department of Medical Gastroenterology, Medical College, Chennai, Tamil Nadu, India Background: is a cause of and and is the of inflammatory disease from India in The of the was to the clinical and of hospital patients with This included patients with at a between and was by clinical and outcomes were A total of patients were with a of and male were and diabetes was the Fever and abdominal pain were present in and of whereas had The hospital was days and was and were the diabetes and of use diagnosis were of hospital Conclusion: in patients with significant and is strongly by Early risk and are to outcomes in this Keywords: infection, diabetes mellitus, infection, disease Beyond the and S. Department of Medical Gastroenterology, Medical College, Chennai, Tamil Nadu, India Background: is a rare gastrointestinal of systemic presenting with and clinical may infectious, or inflammatory in diagnosis and Case We a case of with gastrointestinal and systemic with The patient presented with and pain and was as evaluation revealed with of The patient presented with abdominal and inflammatory both large and and was with syndrome secondary to The an presented with a history of with and along with oral ulcers and large and revealed and evaluation revealed positive antinuclear elevated and Contrast-enhanced computed tomography in all patients demonstrated wall and with Management and Outcome: All patients received followed by immunosuppressive therapy, with clinical and Conclusion: should be considered in presenting with gastrointestinal or inflammatory in the presence of systemic Early and immunosuppression are critical for Keywords: syndrome, syndrome, inflammatory disease systemic with A. A. Department of Medical Gastroenterology, Medical and Hospital, Chennai, Tamil Nadu, India Introduction: is an disease by the clinical to diagnosis and is a rare and a diagnostic Case A male with diabetes and alcohol use presented with of 1 month and significant evaluation revealed whereas were negative. showed in the computed tomography abdomen was which revealed in the of the with a the diagnosis of however, was The patient was initiated on which showed marked clinical and resolution of Conclusion: is an uncommon presentation and may other such as tuberculosis, or even In and should a of Early diagnosis and are to and Keywords: of and of at a in A 1-year A. Department of Medical Gastroenterology, Medical College, Chennai, Tamil Nadu, India Background: hepatitis an to with chronic liver disease, and hepatocellular the and risk factors of patients is for and improved clinical the and risk factors of patients with a in India over a 1-year This was at Medical from to Medical of patients with were clinical risk and findings were from hospital and A total of patients were with of the The to the patients were evaluation for other and abdominal pain were Intravenous use was the risk followed by and chronic disease on was reported in of associated with risk factors included and identifiable risk was in of patients. Conclusion: and was were risk the for and in Keywords: hepatitis of of of A Department of Medical Gastroenterology, Medical College, Madurai, Tamil Nadu, India and with followed by a or is the for the of in to or challenges. This to and endoscopic of of endoscopic in and This included patients for between and at a Medical on clinical imaging and were and were to of was in patients revealed significant of in the presence of a and with and had Conclusion: such as and may patients and use of such as or Beyond A Rare Cause of in S. Department of Medical Gastroenterology, Medical College, Chennai, Tamil Nadu, India Background: in chronic attributed to and such as characterized by of to and chronic may Secondary to chronic is We a case of chronic presenting with chronic as secondary Case Presentation: A male with established chronic presented with and examination revealed without or Laboratory evaluation showed with liver and examination for or not of Upper gastrointestinal endoscopy demonstrated multiple in the Histopathological examination of biopsies revealed markedly Contrast-enhanced computed tomography and secondary of were Patient managed with enzyme therapy, and clinical with resolution of and in levels. Patient and and may to in secondary is as leads to excellent clinical Conclusion: This case highlights the for clinical for as a rare and cause of chronic in chronic Keywords: chronic A of in with K. Department of Medical Gastroenterology, Institute of Medical and Coimbatore, Tamil Nadu, India Background: and disorders are gastrointestinal with a significant on of diagnosis is for effective and are diagnostic and This to in patients presenting with chronic and A was patients with chronic to the A total of patients with chronic and disorders included and and of the patients with had elevated whereas had was in of patients. The was abnormal in In of patients demonstrated and showed Conclusion: findings the of in chronic and the role of in comprehensive diagnostic Keywords: and between Serum and in with in a in Coimbatore Ravishankar, V. A. Senthil Vadivu Department of Medical Coimbatore Medical and Hospital, Coimbatore, Tamil Nadu, India Background: disease disease and is a chronic inflammatory of the gastrointestinal and in disease and in Serum the and between and disease in patients with This was a at a A total of patients with were All patients with liver and such as and and including of disease or and were was the for and the for Serum were and to The between and disease was The included patients with and patients with with a in the 1 in 2 patients had was patients with particularly in with disease was a moderate between and disease that were associated with disease with extensive disease and to levels. with in in in disease, with the Conclusion: Serum a significant with disease in patients with is in patients with disease and extensive disease and of may a role as an in the of Keywords: disease, inflammatory disease, in A Department of Medical Gastroenterology, Institute of Medical and Coimbatore, Tamil Nadu, India Background: A in India a however, in to a The of the was to in A at a in Tamil This was a at a in Tamil All patients with acute A the were and biochemical were and A total of patients were The were male The was followed by of whereas patients for a of and bilirubin showed a significant positive with patients had significantly bilirubin to were significantly in Conclusion: This demonstrates an of A and a from to and the for and of A in Keywords: hepatitis, hepatitis A of An from a Department of Medical Gastroenterology, Institute of Medical and Coimbatore, Tamil Nadu, India Background: is a gastrointestinal with a etiology. is to abnormal with symptoms and and the of symptoms with infection, and This included patients and were the A including and abdominal were for with on upper gastrointestinal and anemia or was to the between symptoms and showed no significant with symptoms were not significantly associated with or anemia a with anemia was demonstrated no significant between or abdominal pain and pain showed a positive demonstrated Conclusion: a significant symptoms with infection, and anemia, the of and the to through a Keywords: and of A from a A. A. Department of and Medical College, Chennai, Tamil Nadu, India Background: is of the findings to are The of the was to the and of the of A of all between and at the Department of and was with were for for and were patients with a of The was with a of in to with a male were followed by and were in whereas had Conclusion: is not uncommon and demonstrates a in with and of this is Keywords: of in A Department of Medical Gastroenterology, Chennai, Tamil Nadu, India Background: is a in with reported between and is such as and and In and to through and clinical on in the A was from to medical of patients with A total of patients were with a of were and were female patients. V. The included patients to the with at not which may limit Conclusion: in patients is a with etiologies on patient outcomes and highlights the for further particularly the where Keywords: When K. Institute of Medical Gastroenterology, Madras Medical College, Chennai, Tamil Nadu, India Background: is a presentation in and is attributed to or is a rare of systemic by of the and presentation as is uncommon and can to diagnostic and Case Presentation: A female presented with acute abdominal abdominal and of with and to improvement. computed tomography abdomen revealed smooth circumferential wall thickening with and from the to the along with and and moderate showed a was excluded by acid and was with a normal Autoimmune evaluation demonstrated with a and and A diagnosis of was The patient was initiated on systemic in and complete resolution of Follow-up showed improved and Conclusion: though rare, should be considered in of Early diagnosis and therapy can and Keywords: Cholestasis in Cholestasis Case of 4 K. V. S. Department of Medical Gastroenterology, Medical and Hospital, Coimbatore, Tamil Nadu, India Introduction: is a rare of in particularly 3 and and cholestatic liver We a of patients with diagnostic and clinical Case We of progressive cholestatic liver disease with of injury and and are in Conclusion: is an and cause of cholestatic liver disease in elevated injury on and of secondary should of with Early is to for and of histopathological findings and outcomes in of cholestatic liver disease with ductopenia. liver disease, Liver progressive cholestatic liver disease, progressive in of Liver in a Department of Medical College, Chennai, Tamil Nadu, India Background: liver disease is associated with significant and the role of primary in and in to be a This to the of and which or clinical factors of We a of at a was the included patient and of was and tests. The revealed a of of reported moderate to severe and were to of disease and not with the of were 3 and patient Conclusion: findings that the on is by the of acute clinical clinical to and Keywords: chronic liver disease, with An Unusual and K. K. Department of Medical Gastroenterology, Mission and Madurai, Tamil Nadu, India Background: classically in the with is rare and may is a of inflammatory occurring in acute severe is uncommon in or and Case Presentation: A 65-year-old with systemic presented in with by with and evaluation was negative. followed by and of the to Contrast-enhanced computed tomography abdomen showed focal of the with a marked and inflammation, normal and of the and demonstrated severe to the with a normal revealed chronic with and inflammatory with was with systemic and oral and with improvement. Conclusion: This case highlights which is a rare of and the uncommon to requiring Keywords: disease, and in Jaundice Secondary to and Management Department of Medical Gastroenterology, Medical and Hospital, Tamil Nadu, India Introduction: is a of characterized by the are of and present with symptoms to to differentiation of from other or is for We a case of presenting as Case A male with a history of consumption presented with abdominal pain and progressive for Laboratory investigations revealed a cholestatic of demonstrated mild biliary and imaging with computed tomography and resonance multiple of in the of the along with of the and biliary Serum were significantly revealed the the revealed multiple the with the cm × findings of an was which demonstrated elevated further a etiology. the total was The patient was managed with endoscopic and biliary for Conclusion: This case highlights the presentation of as with differentiation of from other imaging and endoscopic patients for endoscopic biliary as a and effective Keywords: When A of Rare and from India A Case K. Premkumar Institute of Medical Gastroenterology, Madras Medical College, Chennai, Tamil Nadu, India Background: in India demonstrates a from alcohol a associated with and progression to chronic disease, and uncommon etiologies are once attributed to is known to a with is to and improved infectious, and etiologies is for diagnosis and Case We of in patients rare and Case 1 a male with acute to with 1 and Case 2 was a female with systemic presenting with acute as the Case 3 a male with acute secondary to Case 4 a male therapy, with attributed to a gene as a Case 5 was a male with presenting with to a gene mutation. Conclusion: This case highlights the of in the importance of evaluation and clinical for uncommon particularly in patients with Keywords: 1 systemic The of A Case of as and K. V. Department of Medical Gastroenterology, Hospital, Coimbatore, Tamil Nadu, India Introduction: is an by is a with clinical syndrome or inflammatory disease to diagnostic to the of and from a diagnostic We present a case the critical role of histopathology in chronic abdominal Case We two clinical of The a male with significant presented with an acute characterized by and The a a of with In both examination and findings were biopsies revealed the a on the of the patients therapy Conclusion: We that should not tissue biopsy the to the to from to Keywords: chronic between the A. Department of Medical Gastroenterology, Medical and Hospital, Tamil Nadu, India Background: syndrome is a rare cause of from of the of the between the and the abdominal to a and Case We of syndrome etiologies and clinical The case was a male presenting with abdominal and Contrast-enhanced computed tomography revealed with a of and of along with of with and to with follow-up 15 days in and The case was a male presenting with acute abdominal and imaging demonstrated gastric with at the of the with syndrome, which with The case a female presenting with and showed a of attributed to a of improved with The case was a female severe and for to secondary syndrome, managed with and Conclusion: This case the importance of diagnosis of syndrome and highlights including as a precipitating Early effective and may Keywords: syndrome, Autoimmune in an Alcohol-related A Case Senthil of and Medical and Hospital, Coimbatore, Tamil Nadu, India Introduction: with chronic liver disease present with We a case of presenting with and as autoimmune Case A male with presented with and for 1 He had from alcohol for 2 months. Examination revealed splenomegaly. history of included syndrome, chronic and chronic hepatic with of with of was to and Based on clinical and autoimmune was Treatment were steroid therapy, Intravenous immunoglobulin The patient was with immunoglobulin and to was with from to in 2 investigations and findings are in in Conclusion: hepatic is the cause of in should be considered of the of this is the case the of and of and chronic liver disease of with of in with in a A. Department of Medical Gastroenterology, Medical College, Madurai, Tamil Nadu, India Introduction: significantly improved the and of hepatitis factors can including both and This to the associated with in which may to was not as patients received a to and to the We positive by enzyme and acid patients presented for of in hospital over a of 1 Treatment was on at of therapy. were two and not and were between the The at was The in the was Treatment was male patients The in was × The of cirrhosis was in and in The was significantly in the A was strongly associated with with hepatocellular had a of was in of patients in Conclusion: cirrhosis and elevated and were significant factors associated with to achieve at of therapy. Keywords: hepatitis The and Department of Medical Gastroenterology, Institute of Medical and Chennai, Tamil Nadu, India Case A 65-year-old male with no significant medical history presented with abdominal pain and significant over a of blood investigations including complete blood function and liver function were computed tomography (CECT) abdomen was of a in the of with multiple necrotic was tomography showed a was and at of 3 cm × 1 cm were with and biopsy was Histopathological examination showed with inflammation, Patient was initiated on therapy and had significant in 3 months. Follow-up months of therapy showed complete resolution of abdominal lymphadenopathy. Conclusion: imaging findings from
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