HEPATIC ENCEPHALOPATHY MASKING A DEEPER ABNORMALITY. H. Jasti 1 , R. Granieri 1 ; 1 University of Pittsburgh, Pittsburgh, PA LEARNING OBJECTIVES: 1) Identify the clinical presentation of hemochromatosis (HC). 2) Recognize the diagnosis and management of this condition. CASE INFORMATION: A 53-year-old female with hypertension, diabetes, and cirrhosis presented with worsening lethargy and confusion. Social history was remarkable for alcohol abuse, which ended two years before presentation. On physical, she had scleral icterus, hepatosplenomegaly, generalized jaundice with palmar erythema and spider angiomatas. Neurologically, she was alert but intermittently confused. Asterixis was present. Laboratory studies were significant for elevated transaminases and ammonia levels. Subsequent lab work revealed a ferritin of 2000, Fe of 250, and transferrin saturation of 89%. A liver biopsy demonstrated increased iron deposition in the hepatocytes, confirming the diagnosis of HC. A consequent family discussion revealed that her younger brother (age 41) and nephew (age 36) both complained of arthralgias. Genetic testing confirmed HC in both of them. DISCUSSION: Hemochromatosis is the most common inherited disorder in the U.S. It is an autosomal recessive condition in which there is increased absorption of iron that causes damage to the liver, heart, pancreas, joints, and other organs. The mean age of presentation is in the fifth decade. The classic triad of cirrhosis, diabetes, and skin hyperpigmentation is not usually the presenting sign; rather it represents late-stage disease. Arthropathy, especially in non-weight bearing joints, can be a common presenting complaint, as it is prevalent in 60% of symptomatic patients. Other early signs and symptoms include erectile dysfunction, amenorrhea, depression, and fatigue. Diabetes and cardiomyopathy may also be presenting signs in younger individuals. The liver is the most affected organ with iron deposition leading to functional abnormalities, fibrosis, and eventually cirrhosis. Liver failure is the most common cause of death. A combination of increased transferrin saturation ( > 50%) and an elevated ferritin is about 95% accurate for the diagnosis. Confirmation is made with a liver biopsy. Genetic testing has also shown promise, especially to test the first-degree relatives of patients with HC. Treatment involves phlebotomy, which depletes iron stores. Given the high prevalence of the condition and effectiveness of early intervention, early recognition of the disease is critical for successful treatment and prevention of premature morbidity and mortality. Therefore, one should consider the diagnosis in those cases presenting with abnormal transaminases, idiopathic diabetes, or unusual presentations of arthritis.