A diagnostic approach to hyperferritinemia with a non-elevated transferrin saturation

Area of Science:

• Clinical Medicine
• Biochemistry
• Diagnostic Imaging

Background:

• Elevated serum ferritin is a frequent clinical finding requiring careful interpretation.
• Understanding the causes of hyperferritinemia is crucial for patient management.
• This review focuses on interpreting elevated ferritin in the context of other diagnostic parameters.

Observation:

• Utilized a large patient series with hepatic iron overload, confirmed by liver iron concentration, as a gold standard.
• Compared predictive values of various non-invasive iron tests against this gold standard.
• Incorporated patient history, transferrin saturation, liver enzymes (ALT, AST), HFE mutation testing, and imaging.

Findings:

• Developed a systematic approach to interpreting elevated serum ferritin.
• Demonstrated the utility of integrating multiple clinical parameters for accurate diagnosis.
• Highlighted common pitfalls in interpreting iron blood tests through case studies.

Implications:

• Provides a framework for clinicians to accurately diagnose the causes of elevated serum ferritin.
• Enhances the diagnostic utility of non-invasive iron tests.
• Aids in the timely and appropriate management of iron overload conditions.