Case Presentation: A 64 year-old male with past medical history of prostate adenocarcinoma, hypertension, gout, GERD, and alcohol abuse presented to the hospital with jaundice for seven days. Past surgical history was notable for cholecystectomy. Patient was currently on radiation therapy and set to initiate chemotherapy later. A course of Bicalutamide and Augmentin were recently completed prior to arrival. Vitals on presentation were within normal limits. Physical exam remained unremarkable except for jaundice to the skin from the level of the head down to his bilateral mid-thighs and prominent scleral icterus. Liver function tests revealed hyperbilirubinemia (UCB 2 and CB 7.1), ALT of 925, AST of 494, and alkaline phosphatase of 510. Lipase remained normal with R factor suggestive of hepatocellular vs cholecystic vs mixed etiology. Infectious, autoimmune, and toxic etiology (acetaminophen and alcohol induced injury) were ruled out. Ferritin level found to be 3930 suggestive of hemochromatosis; however, with such an acute presentation (and recent normal LFTs) percutaneous liver biopsy with HFE analysis was obtained for definitive diagnosis. Preliminary liver biopsy showed cholestatic drug induced liver injury due to recent Augmentin use and increased iron deposition in hepatocytes. HFE-3 gene mutation results returned positive. On hospital day 5, the patient was discharged with downtrending liver function tests indicating resolution of liver injury.

Discussion: Acute liver injury with sudden onset jaundice in a geriatric male is a rare presentation of Hereditary Hemochromatosis that can easily be missed due to late presentation without typical gradual symptoms. Hemochromatosis is the most common autosomal recessive disorder in people of European ancestry and is caused by an HFE gene mutation. Biallelic mutations, along with decades of excess iron absorption, is typically necessary for significant tissue iron deposition and for patients to develop symptoms. Males develop symptoms in their 40s and 50s and females in their 50s and 60s due to menstrual loss of iron. Patient presentation is usually gradual and initial symptoms include chronic fatigue, skin hyperpigmentation, joint stiffness, LFT abnormalities with later manifestation of cirrhosis, dilated cardiomyopathy and diabetes mellitus. In our case, the diagnosis of hemochromatosis in this patient was initially obscured due to emphasis on the drug induced liver injury from Augmentin. After discontinuing the antibiotic our patient quickly recovered, but the diagnosis of hemochromatosis was not obvious until pathology from liver biopsy revealed iron deposition in hepatocytes and the HFE-3 gene mutation came back as positive. It is possible that the acute liver injury expedited the presentation of his disease.

Conclusions: In the setting of jaundice and elevated liver function tests, clinicians should consider hemochromatosis as a part of their differential despite rapid onset of symptoms or late age of presentation. It is important to consider that hemochromatosis can be masked by other acute causes of liver injury. After ruling out infectious, autoimmune, and toxic etiologies a liver biopsy should be considered for a definitive diagnosis. This empowers patients to pursue genetic testing for family members, actively decrease their iron load through blood donation, and prevent late manifestations of the disease such as cirrhosis.