Hereditary Hemochromatosis and Dieulafoyʼs Lesion - A Plausible Association

Abstract

Hereditary hemochromatosis (HH), is an autosomal recessive disorder most commonly due to mutations in the HFE gene. The condition's pathophysiologic predisposition to increased iron uptake can lead to the development of life-threatening complications of liver disease, heart disease, and diabetes. A Dieulafoy's lesion is a dilated aberrant submucosal vessel that erodes the overlying epithelium in the absence of a primary ulcer. The lesions are usually located in the proximal stomach along the lesser curvature, although they have been found in all areas of the gastrointestinal tract, including the esophagus, duodenum, and colon. Here, we present a case of a 68-year-old man with HH that presented with melena of 2 weeks duration associated with a Hemoglobin drop from 14 to 8.8 g/dL. He reported increasing fatigue, weakness, and dyspnea on exertion. He denied hematemesis, bright red blood per rectum, use of iron or bismuth supplements. On physical exam his abdomen was soft, non-distended, with normoactive bowel sounds. Rectal exam showed no fissures, normal rectal tone, no palpable masses. Some flecks of brown and black stool were present. He was stabilized and taken for endoscopy the following day. Endoscopy showed a Dieulafoy's lesion at the duodenal sweep, which was actively oozing blood. Even after multiple attempts to electrocauterize and place a hemoclip, there was still residual bleeding. The patient was subsequently transferred to interventional radiology for gastroduodenal artery embolization. Unfortunately, despite multiple intraoperative angiograms, the vessel was unaccessible. His vitals and hemoglobin were monitored, as dark stool transitioned to brown. He was continued on oral pantoprazole twice a day and scheduled with close follow up. We propose that there may be an association between HH and Dieulafoy's lesions. The etiology of Dieulafoy's lesion is not well understood. Patients who bleed from Dieulafoy's lesions are typically men with comorbidities including cardiovascular disease, hypertension, chronic kidney disease, diabetes, alcohol abuse, NSAID use, and advanced liver disease. Many of these comorbidities are inherently present in individuals with HH, as a part of the disease process. The patient mentioned above had cardiovascular disease, diabetes, and liver disease secondary to HH. He also had chronic kidney disease stage 3B secondary to diabetes and hypertension. He did not use NSAIDs or alcohol.