Dihydropyrimidine dehydrogenase deficiency
- DPD deficiency
- Familial pyrimidinemia
- Hereditary thymine-uraciluria
Your QuestionMy doctor has prescribed Fluorouracil to treat pre-cancerous spots on my hands. To my knowledge, I don't have any family history of dihydropyrimidine dehydrogenase (DPD) deficiency, but I have read that up to 8% of the population has some form of this, which can be problematic when Fluorouracil is used. Should I be tested prior to use and is there an alternative course of treatment?
We have identified the following information that we hope you find helpful. If you still have questions, please contact us.
Questions on this page
- Why can't people who have dihydropyrimidine dehydrogenase (DPD) deficiency use certain types of chemotherapy?
- Are there alternative chemotherapy agents which can be safely used by people with dihydropyrimidine dehydrogenase (DPD) deficiency?
- How can I find out if I have a mutation which puts me at risk for dihydropyrimidine dehydrogenase (DPD) deficiency?
- How can I find a genetics professional in my area?
Individuals with a partial DPD deficiency (about 3% to 5% of the population) due to sequence variations in DPYD gene, as well as people with one mutated copy of the DPYD gene (carriers), also may have limited ability to fully metabolize the drug. It has been suggested that individuals with known DPD deficiency and/or a family history of known mutations in the DPYD gene avoid therapy with these drugs. These individuals may consider treatment regimens that do not contain 5-FU or other fluoropyrimidines (if available). In some cases, modified doses of these drugs may still be recommended.
Information about different types of chemotherapy drugs is available on the American Cancer Society's Web site and can be viewed by clicking here.
Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.
The following online resources can help you find a genetics professional in your community:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Dihydropyrimidine dehydrogenase deficiency. Genetics Home Reference. November 2011; http://ghr.nlm.nih.gov/condition/dihydropyrimidine-dehydrogenase-deficiency. Accessed 11/28/2012.
- Maurie Markman. Fluorouracil Toxicity and DPYD. Medscape Reference. January 26, 2012; http://emedicine.medscape.com/article/1746057-overview. Accessed 11/28/2012.
- Deciding which chemotherapy drugs to use. American Cancer Society. October 26, 2011; http://www.cancer.org/Treatment/TreatmentsandSideEffects/TreatmentTypes/Chemotherapy/ChemotherapyPrinciplesAnIn-depthDiscussionoftheTechniquesanditsRoleinTreatment/chemotherapy-principles-selecting-chemo-drugs-to-use. Accessed 11/28/2012.