Case Presentation: A man in his early 20s with hypothyroidism and low testosterone (on levothyroxine and testosterone) presented with fatigue and a 100-pound weight loss over 10 months. He denied systemic symptoms (e.g., fever, night sweats) or other medications. There was a possible family history of liver disease. On exam, he was afebrile (36.6°C), hypotensive (89/53 mmHg), and bradycardic (44 bpm), with a respiratory rate of 15 and 99% oxygen saturation on room air. His BMI was 16.9, with muscle wasting and a scaphoid abdomen. The remainder of the physical exam was unremarkable. Labs revealed hypoglycemia (glucose 57 mg/dL) and hepatocellular injury (ALT 121 U/L, AST 70 U/L, ALP 57 U/L, total bilirubin 1.1 mg/dL). TSH was 0.58 µIU/mL with free T4 at 0.8 ng/dL. Testosterone was low, and iron studies showed elevated iron (188 µg/dL), ferritin (1,290 ng/mL), transferrin (150 mg/dL), UIBC < 17 µg/dL, and undetectable TIBC. Hepatitis A, B, and C were negative; CRP was normal. Testosterone therapy was held. Further workup showed suppressed LH (0.1 IU/L), FSH (< 0.3 IU/L), IGF-1 (26 ng/mL), and testosterone (86 ng/dL), with normal morning cortisol and ACTH. Test results obtained prior to levothyroxine therapy showed normal TSH and low T4. EKG showed sinus bradycardia, and chest CT showed pneumomediastinum. Abdominal MRI revealed iron deposition in the liver and spleen, and possibly the myocardium with no masses or lymphadenopathy. However, brain, pituitary, and cardiac MRI were unremarkable. A liver biopsy was obtained which showed 2+ iron deposition in Kupffer cells and hepatocytes, no fibrosis, and a Hepatic Iron Index of 2.2, consistent with iron overload. The team then sent a Hemochromatosis genetic panel. Given his malnourished appearance, further history revealed concerns about food intake. Psychiatry consultation found he was skipping meals, avoiding carbohydrates, and excessively exercising to lose weight. Although Juvenile Hemochromatosis led the team’s differential, the genetic panel returned completely negative.
Discussion: This case highlights a diagnostic conundrum in a young patient with secondary hypothyroidism, hypogonadism, and iron overload. Juvenile hemochromatosis can cause iron deposition involving the liver, spleen, pituitary, and heart (1). Anorexia can present with varied symptoms including bradycardia, muscle wasting, and hypothalamic-pituitary axis disruption. Hemosiderosis, though rare, has been reported (2-4). With common causes of iron deposition ruled out, we concluded that this patient’s presentation was best explained by anorexia.
Conclusions: Clinicians should recognize that rare diagnoses may be less likely than atypical presentations of common conditions. This case underscores the need to avoid errors such as anchoring bias (e.g. linking iron deposition to hemochromatosis) when approaching complex clinical data. Anorexia should be included in the diagnosis of iron deposition given the correct clinical scenario.