A 24-year-old Hispanic man presented with persistent hyperbilirubinemia for two weeks. Patient was recently diagnosed with acute liver injury secondary to Hepatitis A two months ago when he presented with yellowing skin, fevers, nausea, vomiting, and abdominal pain which had resolved after one week. He had no past medical history and denied alcohol or drug use. Labs from first admission were significant for elevation of total bilirubin, alkaline phosphatase, INR, reactive hepatitis A IgM and significant transaminitis indicative of acute liver failure. Patient was treated supportive care. At his follow up appointment he was found to have worsening elevation of T.bili. He was sent to our hospital for further workup to rule out a secondary process. Upon admission, review of systems was positive for fatigue, pruritus, and diffuse abdominal. Patient denied confusion, fever, chills, nausea, vomiting, or changes in bowel or bladder habits. Physical exam was significant for scleral icterus and mild abdominal tenderness. Total bilirubin upon admission was 10.1 and transaminitis was also present but to a lower degree. Iron studies were significant for elevated transferrin of 117, ferritin of 3657 and 98% saturation. Triple phase MRI demonstrated three focal hepatic lesions that remained hypoechoic during the delayed phase which likely suggested steatosis. Liver biopsy showed grade 3/4, stage 4/4 (cirrhosis), possibly related to hemochromatosis with superimposed subacute cholestatic hepatitis secondary to hepatitis A related with IgM antibotides. Quantitative iron studies were ordered due to high degree of suspicion of hemochromatosis after initial biopsy results. Studies showed elevated iron index in the range suggestive of heterozygous hemochromatosis.
Discussion:
Our patient presented with newly diagnosed hepatitis A causing acute liver failure. Iron studies were consistent with an iron overload disorder but initially these abnormalities were thought to be a manifestation of the patient’s acute liver injury. When the patient’s hyperbilirubinemia persisted and signs of fulminant liver failure (decreased synthetic function and encephalopathy) were found, further investigation for another underlying cause was pursued as hepatitis A infections only cause fulminant liver failure in less than 1% of cases. Liver biopsy showed cirrhosis and quantitative iron studies were consistent with hemochromatosis.
The prevalence of HH in the United States is 1 in 200-500 and most individuals are of northern European origin. Hereditary hemochromatosis (HH) historically has been identified as a disease that affects older Caucasian males. This generally holds true as the prevalence of HH is 6 times higher in white persons than in other races and men are affected 2-3 times as often as their female counterparts. However, multiple studies have shown that the HLA mutation most commonly causing HH is also present in Hispanics and African Americans. Moreover, ten percent of the population is heterozygote for this HLA mutation. Patients who are heterozygous for HH usually do not present symptomatically unless they also have an associated condition like hepatitis or alcohol abuse.
Conclusions:
The diagnosis of hemochromatosis can be challenging when another known diagnosis can be blamed for the patient’s presenting symptoms. This case shows the importance of keeping a broad differential to avoid anchoring biases when treating the acutely ill patient.