This presentation suggests hereditary hemochromatosis. Common features include hyperpigmentation ("bronze diabetes"), hepatomegaly, diabetes, fatigue, and elevated liver enzymes. Serum ferritin is a screening test for iron overload, and elevated levels support the diagnosis.
Toronto Notes 2023 – Endocrinology / Gastroenterology:
“Hemochromatosis presents with skin hyperpigmentation, hepatomegaly, diabetes, fatigue. Diagnosis begins with serum ferritin and transferrin saturation.”
MCCQE1 Objectives (Internal Medicine > Metabolic and Endocrine > 37-1):
“Candidates must investigate iron overload syndromes using ferritin and transferrin saturation.”
Cortisol (B) is for adrenal insufficiency. A1AT (C) is a liver disease cause but not typical here. Amylase (E) is for pancreatitis. A1c (A) would confirm diabetes but not the underlying cause.
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