What are the current challenges in diagnosing and treating DPD deficiency?
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Diagnosing and treating DPD deficiency poses challenges despite advancements. Screening for DPYD variants before fluoropyrimidine (FP) treatment is recommended but may not predict severe toxicity . DPD deficiency can lead to life-threatening reactions post-5-FU exposure, emphasizing the need for testing. Techniques like DPYD exome sequencing and phenotyping aid in identifying rare variants causing enzyme inactivation, enhancing diagnosis. Challenges include the inadequacy of current screening methods in predicting toxicity and the delayed manifestation of DPD deficiency symptoms post-drug administration . Implementing comprehensive approaches combining genetic screening, phenotyping, and in silico analysis can improve detection of DPD deficiency, guiding personalized treatment strategies. These challenges highlight the importance of early identification and tailored management to prevent severe adverse reactions in patients undergoing FP therapy.
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| Papers (4) | Insight |
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14 Citations | Current challenges in diagnosing and treating DPD deficiency include inadequate screening for DPYD variants, leading to severe fluoropyrimidine-induced toxicity, and the need for comprehensive genetic testing and phenotyping methods. |
262 Citations | Not addressed in the paper. |
3 Citations | Current challenges in diagnosing and treating DPD deficiency include optimizing dosing before fluoropyrimidine administration, utilizing DPYD genotyping and DPD phenotyping to prevent severe toxicity, and implementing mandatory screening protocols. |
| Not addressed in the paper. |
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