A 47-year-old man presents to the clinic with progressive fatigue and joint pain involving the second and third metacarpophalangeal joints. He also reports decreased libido. His medical history is notable for recently diagnosed type 2 diabetes mellitus. He takes metformin and rosuvastatin. Temperature is 36.9°C (98.4°F), blood pressure is 128/78 mm Hg, pulse is 80/min, and respiratory rate is 14/min. Physical examination reveals mild hepatomegaly and increased skin pigmentation. Laboratory studies demonstrate elevated ferritin and transferrin saturation levels.
Which of the following is the most likely diagnosis?
The correct answer is:
B: Hemochromatosis.
This patient has the classic presentation of hereditary hemochromatosis, including diabetes mellitus, skin hyperpigmentation, hypogonadism, arthropathy, hepatomegaly, and iron overload. Excess iron deposition causes progressive organ dysfunction involving the liver, pancreas, heart, joints, and endocrine organs.
Answer choice A: Autoimmune hepatitis, is incorrect.
Autoimmune hepatitis causes hepatocellular inflammation but does not produce the characteristic iron overload findings present here.
Answer choice C: Primary biliary cholangitis, is incorrect.
Primary biliary cholangitis (PBC) commonly presents with pruritus and cholestatic liver enzyme abnormalities rather than systemic iron overload.
Answer choice D: Primary sclerosing cholangitis, is incorrect.
Primary sclerosing cholangitis (PSC) is associated with ulcerative colitis and multifocal biliary strictures rather than elevated iron studies.
Answer choice E: Wilson disease, is incorrect.
Wilson disease involves copper accumulation and often presents at a younger age.
Key Learning Point
Hereditary hemochromatosis causes iron overload and classically presents with diabetes, skin hyperpigmentation, hypogonadism, arthropathy, and liver disease.
