P1338 - Iron Sights: A Confused Presentation of Hemochromatosis

Salim C.. Lutfallah, BS¹, Catherine Loehr, MD², Hunter Hall, MD², Stephen Landreneau, MD^2
1LSU Health New Orleans School of Medicine, Metairie, LA; ²LSU, New Orleans, LA

Introduction: Hemochromatosis is a condition characterized by excessive iron absorption in the intestines, leading to the buildup of iron in various tissues throughout the body. Typical symptoms of hemochromatosis include bronze skin discoloration, diabetes, cirrhosis, and cardiomyopathy. Primary hemochromatosis is typically caused by mutations in the HFE gene, with the most common variants being C282Y and H63D.

Case Description/Methods: A 42-year-old woman from Turks and Caicos presented with altered mental status. Over the last three months, she experienced a reduced appetite, fatigue, and unintentional weight loss of 25 pounds. She also reported recurrent vomiting, joint pain, peripheral neuropathy, skin discoloration, loss of libido and irregular menstrual cycles.

She was admitted for investigation of symptomatic macrocytic anemia and transaminitis. Her hemoglobin was 6.6 gm/dL with a hematocrit of 20.7% and a mean corpuscular volume of 111.3 fL. An iron panel was obtained, revealing a ferritin level of 1258 ng/mL, iron level of 125 ug/dL, transferrin level of 178 mg/dL, iron saturation of 54%, total iron binding capacity of 231 ug/dL, and transferrin saturation of 54%. Tests including direct antiglobulin test, lactate dehydrogenase, reticulocyte count, glucose-6-phosphate dehydrogenase, and ADAMTS-13 antibodies were within normal limits.

An esophagogastroduodenoscopy revealed a narrowed esophagus with abnormal vascularity and fragile mucosa throughout. While no esophagitis was observed, the procedure had to be aborted due to hypoxia, preventing the collection of biopsies. The hematology team attributed the anemia and high ferritin to hemochromatosis. This diagnosis was confirmed by abdominal MRI findings indicating diffuse T2 low signal throughout the liver, which increases on out-of-phase imaging. Unfortunately, the patient was lost to follow-up and was not genetically tested.

Discussion: Hemochromatosis may be indicated by an elevated iron panel when other causes of iron overload are ruled out. Signs of liver disease, serum ferritin levels exceeding 200 ng/mL and transferrin saturation exceeding 45% in premenopausal women strongly suggests hemochromatosis. This case presentation offers valuable insights for clinicians grappling with a complex presentation of symptoms with unexplained anemia and liver dysfunction. It underscores the importance of considering the possibility of hemochromatosis in such scenarios.


Disclosures:


Salim C.. Lutfallah, BS¹, Catherine Loehr, MD², Hunter Hall, MD², Stephen Landreneau, MD². P1338 - Iron Sights: A Confused Presentation of Hemochromatosis, ACG 2024 Annual Scientific Meeting Abstracts. Philadelphia, PA: American College of Gastroenterology.