In a patient with mild transaminitis and negative HepB/HepC, which investigation helps evaluate for hereditary haemochromatosis?

In a patient with mild transaminitis and negative HepB/HepC, which investigation helps evaluate for hereditary haemochromatosis?

• A. Hepatic biopsy
• B. Lipid panel
• C. Serum ferritin level (to screen for hereditary haemochromatosis) plus liver ultrasound
• D. Serum testosterone

Answer: (C)

Screening for hereditary haemochromatosis starts with iron studies to look for excess iron stores. Measuring ferritin is useful because it reflects total body iron; an elevated ferritin level raises suspicion for iron overload and prompts further evaluation. In a patient with mild transaminitis and negative hepatitis tests, checking ferritin helps identify iron overload as a possible cause of liver test abnormalities. If ferritin is elevated, liver ultrasound adds value by noninvasively assessing the liver’s structure for changes due to iron deposition and to identify any other liver pathology or complications, guiding further management. Hepatic biopsy is more invasive and reserved for cases where definitive assessment of iron deposition and fibrosis is needed. A lipid panel or serum testosterone does not help screen for iron overload.

Screening for hereditary haemochromatosis starts with iron studies to look for excess iron stores. Measuring ferritin is useful because it reflects total body iron; an elevated ferritin level raises suspicion for iron overload and prompts further evaluation. In a patient with mild transaminitis and negative hepatitis tests, checking ferritin helps identify iron overload as a possible cause of liver test abnormalities.

If ferritin is elevated, liver ultrasound adds value by noninvasively assessing the liver’s structure for changes due to iron deposition and to identify any other liver pathology or complications, guiding further management. Hepatic biopsy is more invasive and reserved for cases where definitive assessment of iron deposition and fibrosis is needed. A lipid panel or serum testosterone does not help screen for iron overload.