Nikitha Vobugari, MD1, Jeffrey Y. Kim, MD2, Zone- En Lee, MD1, Mitesh R. Patel, MD1, Hedy P. Smith, MD, PhD1; 1MedStar Washington Hospital Center, Washington, DC; 2MedStar Georgetown University Hospital, Washington, DC
Introduction: Chronic diarrhea (CD) is prevalent in 2-3% of the population and poses a diagnostic challenge given it’s broad differential diagnosis. We report an unusual case of CD secondary to Pancreatic Exocrine Dysfunction (PED) as a unique presentation of incidental pancreatic iron deposition.
Methods: 45-year-old African American female with a PMH of DM, HTN, alcoholic hepatitis and transfusion dependent anemia who presented with diurnal and nocturnal non-bloody diarrhea for 3 years. Diagnostic work-up revealed a secretory diarrhea, stool pancreatic elastase < 15 mcg/g, INR 1.2 and albumin 1.2. Contrast enhanced MRI A/P HASTE series revealed low signal absorption in liver and pancreas depicting iron deposition and chronic hepatic steatosis with cirrhotic changes. MRI 3 years prior showed a normal pancreas without iron deposition. Hb/Hct/MCV were 9.8/22.2/90 respectively. Serum iron level was 83, transferrin saturation (TSAT) 120%, ferritin 2442, which were consistent prior iron studies. HFE gene mutation analysis revealed H63D heterozygosity. No reported family history of hemochromatosis.
Trial of pancrelipase was started for PED with improvement in diarrhea. ISD was diagnosed based on MRI findings of iron deposition in liver and pancreas along with elevated serum ferritin and TSAT. ISD is likely multifactorial including heterozygosity for H63D HFE gene mutation, chronic blood transfusions, alcoholism and potentially undiagnosed ferroportin gene mutation, an autosomal dominant mutation in African Americans. Unfortunately, the patient was lost to follow-up at that time. Discussion: We highlight a unique case of PED causing CD due to pancreatic iron overload.To the best of our knowledge, there is only one other reported case of hemochromatosis causing acute but self limited PED following a viral infection by PL Jansen et al in 1984. In contrast, our patient presented with chronic and symptomatic PED as a direct result of excessive iron deposition in the pancreatic parenchyma. Selective iron deposition into pancreatic beta cells with subsequent development of diabetes is well studied where as data demonstrating iron deposition into pancreatic exocrine cells with subsequent PED is limited.
Conclusion: PED can be directly associated with an ISD that involves the pancreas and should be included in the differential and diagnostic work-up of chronic diarrhea of unclear etiology. Further studies would be helpful to determine the pathophysiology of iron overload on pancreatic exocrine function.
Comparison of Contrast enhanced MRI Abdomen/Pelvis - Axial T2 HASTE sequence Low signal uptake (completely black color in liver and pancreas) representing iron deposition - red arrows in image A vs. normal signal uptake (grey color in liver and pancreas) 3 years ago - blue arrows in image B.
Disclosures: Nikitha Vobugari indicated no relevant financial relationships. Jeffrey Kim indicated no relevant financial relationships. Zone- En Lee indicated no relevant financial relationships. Mitesh Patel indicated no relevant financial relationships. Hedy Smith indicated no relevant financial relationships.