Beyond the Usual Suspects: Hereditary Hemochromatosis and Transaminitis in Primary Care.

ABSTRACT

An annual physical examination within a primary care setting, including evaluation of liver enzymes and abnormal serology, is incidental and often asymptomatic. Fatty liver is the most common etiology for transaminitis. Hepatobiliary imaging studies, viral hepatitis serology, evaluation of metabolic liver disease, and alcohol consumption history should be performed for transaminitis evaluation. In patients with prior history of excessive alcohol consumption, transaminitis is often assumed to be alcohol-related. It is prudent to evaluate other infectious and metabolic etiologies, which can change patient management. Iron studies, including ferritin and transferrin saturation, are performed to evaluate hereditary hemochromatosis (HH). We present the case of a 46-year-old patient who visited the clinic for a routine health checkup, during which elevated ferritin levels were detected. Subsequent diagnosis revealed hemochromatosis. The patient underwent phlebotomy, resulting in a reduction of ferritin levels.