SHM Converge Scientific Abstract ePoster Gallery-Neuropsychiatric Decline as an Atypical Presentation of Hereditary Hemochromatosis

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This case describes a 37-year-old man with a year of progressive behavioral and cognitive decline, falls, fatigue, tremor, slowed speech, and intermittent confusion. His initial outpatient neurology evaluation and workup were unrevealing, and his symptoms were attributed to a psychiatric cause. However, worsening neurologic symptoms prompted further investigation.<br /><br />Laboratory testing showed marked iron overload, including a ferritin of 5,740 ng/mL and elevated serum iron, along with mild transaminase elevation. Brain MRI, EEG, and lumbar puncture were unrevealing, but CT imaging showed hepatic steatosis, raising concern for liver disease. Liver biopsy demonstrated severe macrovesicular steatosis and positive iron staining, confirming hereditary hemochromatosis (HH). Genetic testing showed homozygosity for the HFE p.C282Y mutation.<br /><br />The authors note that this was an atypical presentation of HH with prominent neuropsychiatric symptoms, complicated by previously unrecognized alcohol use disorder, which likely contributed to fluctuating cognition. After starting weekly phlebotomy, all neurologic symptoms resolved.<br /><br />The main lesson is to avoid diagnostic anchoring on psychiatric explanations when young adults present with nonspecific neuropsychiatric decline. Metabolic and hepatic causes, including HH, should be considered because they may represent reversible disease.

Asset Subtitle

Katherine A. Madden

Meta Tag

Author List Arti Tewari, Katherine A. Madden, Natasha Mehta

Category Clinical Vignettes

Concept Hereditary Hemochromatosis

Concept Neuropsychiatric Symptom

Concept Iron Studies

Concept Cognitive Symptom

Concept Confusion

Distinguished Non-Finalist

Presenter Organization University of Chicago, Pritzker School of Medicine

Presenting Author Katherine A. Madden

Track Adult

Keywords

hereditary hemochromatosis

neuropsychiatric decline

iron overload

HFE C282Y mutation

liver biopsy

hepatic steatosis

phlebotomy

cognitive decline

alcohol use disorder

reversible disease

Hereditary Hemochromatosis

Neuropsychiatric Symptom

Iron Studies

Cognitive Symptom

Confusion