DPD Deficiency for 5-FU Response

Is Testing Right for Me? I Have My Test Results

DPD Deficiency for 5-FU Response

What Is 5-Fluorouracil?

5-fluorouracil (5-FU) (pronounced flure oh yoor' a sill) is a common anti-cancer chemotherapy drug. It is often used along with other standard chemotherapy agents to treat people who have colon, gastric (stomach), pancreatic, head, neck, breast, ovarian, and cervical cancers. 5-FU works against cancer by stopping the cell from growing, which kills it. Since cancer cells grow and divide faster than normal cells, the cancer cells are most likely to be affected.

5-FU can be used by itself or along with other chemotherapy drugs depending on the specific circumstances. One chemotherapy drug that 5-FU can be used with is irinotecan (Camptosar™). For more information about irinotecan, see Irinotecan Response Testing.

5-fluorouracil is also called 5-fluracil, Fluorouracil, Fluouracil and FU. It has the brand names Xeloda®, Carac®, Efudex®, Fluoroplex®, and Adrucil®. 5-FU is given intravenously (by vein) or orally (by mouth). Topical 5-FU is used on the skin to treat skin cancer (basal cell carcinoma) and actinic keratosis.

Rarely, people can be very sensitive to 5-FU. These people can develop life-threatening complications after taking 5-FU. Some of these complications include:
  • Severe diarrhea
  • Mucositis – inflammation and ulceration of the mucus membranes
  • Neutropenia – low levels of neutrophils, a type of white blood cell, which can lead to life-threatening infections
  • Nausea/vomiting
  • Rectal bleeding
  • Skin changes
  • Neurologic abnormalities – such as cerebellar ataxia in which people have problems controlling their muscle functions, or cognitive dysfunction in which people are confused, forgetful, and have trouble concentrating
Next: What Affects 5-Fluorouracil Drug Response?

Why are you considering DPD deficiency testing for 5-FU response?

I am considering starting 5-FU to treat a medical condition.

I am currently taking/using 5-FU and I'm not having any problems with it.

I am currently taking/using 5-FU and I'm having side effects.

None of these

DPD deficiency testing for 5-FU response may be useful for you. Some people have an increased sensitivity to 5-FU and are at risk for severe side effects. People with a known DPD deficiency (not enough DPD enzyme) should not take 5-FU. People who develop symptoms of DPD deficiency while taking 5-FU should stop taking it. However, the FDA does not require or recommend testing for DPD deficiency before this drug is prescribed. At this point, the testing decision is left up to the doctor and the patient.

You should talk to your doctor to learn if DPD deficiency testing would make a difference for your healthcare. The table below sums up how test results may change your care.

Test Result Chance To Get This Result
What This Result Means
Normal DPD ~92%
  • You metabolize the drug normally.
  • You have a lower chance for side effects.
  • You can take the usual dose of the drug.
Intermediate DPD ~7%
  • You metabolize the drug more slowly.
  • You may have a higher chance for side effects.
  • Most people with this result can still take 5-FU, but should start with half the usual dose.
Low or absent DPD~1%
  • You cannot effectively metabolize this drug.
  • You have a high risk of toxic side effects.
  • You should not take this drug. Your doctor may consider a different treatment for you.

DPD deficiency testing for 5-FU response may not be useful for you. Some people have an increased sensitivity to 5-FU and are at risk for severe side effects. People with a known DPD deficiency (not enough DPD enzyme) should not take 5-FU. People who develop symptoms of DPD deficiency while taking 5-FU should stop taking it. However, the FDA does not require or recommend testing for DPD deficiency when this drug is prescribed. At this point, the testing decision is left up to the doctor and the patient.

Most people who have DPD deficiency will show signs of 5-FU toxicity after the first treatment. Since you are taking/using the drug without any side effects, testing at this point is probably not that helpful for you. You should continue to be monitored for side effects like everyone else who takes/uses 5-FU. Be sure to mention any concerns or issues you might be having with your doctor immediately.

DPD deficiency testing for 5-FU response may be useful for you. Some people have an increased sensitivity to 5-FU and are at risk for severe side effects. People with a known DPD deficiency (not enough DPD enzyme) should not take 5-FU. People who develop symptoms of DPD deficiency while taking 5-FU should stop taking it. However, the FDA does not require or recommend testing for DPD deficiency when this drug is prescribed. Some doctors may decide that testing is useful to find out if DPD deficiency explains your side effects.

  • If testing finds two gene variants and/or low-to-absent levels of DPD, you have high risk for drug toxicity. You should not take 5-FU. These results likely explain your side effects. Your doctor may want to try a different treatment.
  • If testing finds a gene variant and/or intermediate levels of DPD, you may have a higher risk for drug toxicity, but you may be able to tolerate a lowered dose. Your doctor may try lowering your dose, or your doctor may talk to you about changing to a different treatment.
  • If your test results are normal, DPD deficiency is not likely the cause of your side effects. Other factors may be affecting the way you break down this drug. Your doctor will have to make a decision about whether to lower your dose or change to a different drug therapy by weighing the benefits you are getting against the side effects.

DPD deficiency testing for 5-FU response may not be useful for you. Testing is not recommended for people who aren't starting or currently taking 5-FU. See Who Should Consider Testing for the main reasons for testing.

If you have a reason for testing that isn't covered here, talk to your doctor or a genetic counselor about whether testing might be useful for you.