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High CDT without clinical context: Beware of the variant
Elodie Lebredonchel1, Alexandre Raynor1, Arnaud Bruneel2
1AP-HP, Biochimie Métabolique et Cellulaire, Hôpital Bichat-Claude Bernard, Paris, France.
Summary
Extremely high carbohydrate-deficient transferrin (CDT) levels in a patient were caused by a genetic variant, not alcohol abuse. This highlights the need for advanced testing to confirm biomarker results.
Area of Science:
- Biochemistry
- Genetics
- Clinical Chemistry
Background:
- Carbohydrate-deficient transferrin (CDT) is a key biomarker for diagnosing chronic alcohol abuse.
- Accurate CDT measurement is crucial for clinical decisions, such as driving license reinstatement.
Observation:
- A 39-year-old male presented with extremely elevated CDT (20%) via capillary electrophoresis, risking his driving license.
- The patient reported no alcohol consumption, and had normal mean corpuscular volume and gamma-glutamyl transferase levels.
Findings:
- Re-analysis using N-Latex CDT immunoassay showed a normal CDT level (1.7%).
- Whole-exome sequencing identified a heterozygous missense variant (c.1295A>G) in the TF gene, affecting N-glycosylation.
- This genetic variant resulted in incomplete N-glycan chains on transferrin, leading to falsely elevated CDT by one method.
Implications:
- This case underscores the importance of correlating laboratory findings with clinical presentation.
- Glycoform profile analysis is essential for accurate CDT interpretation, especially when results are unexpected.
- Confirmatory testing using alternative techniques is vital for validating unusual biomarker results.
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