A 42-year-old woman visits the clinic with complaints of increasing fatigue, joint pain, and a noticeable darkening of her skin, which she describes as a “natural tan” despite minimal sun exposure. She also reports mild abdominal discomfort and irregular periods. No significant past medical history, but her father died of heart failure in his 50s.
On examination:
- Skin: Diffuse hyperpigmentation, especially on the face, neck, elbows, and palmar creases
- BP: 115/80 mmHg, HR: 78 bpm
- Mild hepatomegaly
- No rash or lymphadenopathy
Labs:
- Hb: 11.2 g/dL (microcytic)
- Ferritin: High
- Transferrin saturation: >60%
- Liver enzymes: Mildly elevated
- Fasting blood sugar: 135 mg/dL
- What is your top differential diagnosis?
- How does the skin pigmentation help guide the diagnosis?
- What are the risks if this condition goes untreated?
- What genetic testing or family screening might be warranted?