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About one person in every 300 is severely deficient in TPMT, and about 10% of the population in the U.S. has lower than normal levels of TPMT. A balance must be established between these competing metabolic pathways so that;TPMT deficiency is an autosomal recessive condition with an incidence of approximately 1 in 300 individuals homozygous for deleterious mutations in the TPMT gene; about 10% of the population are heterozygous carriers of TPMT mutations.
It is also commonly used for organ transplant recipients and when a diagnosis of Crohn’s disease has been confirmed.
Low activity indicates partial enzyme deficiency and therefore that the probability of azathioprine-induced bone marrow depression or nausea is HIGH.
Reference Ranges: Normal: 68 – 150 mU/L Low: 20 – 67 mU/L High: >150 mU/L Deficient: Associated Diseases: Patient Preparation: None required: Specimen Requirements: Blood specimen in an EDTA (purple top) tube: Turnaround Time: 1 week: Additional Information: Recent blood transfusions may mask a deficient TPMT result. The TPMT blood test is used to test the activity of the thiopurine methyltransferase enzyme.
This blood test result will typically bring about a lower dose of the thiopurine drug to treat the underlying disease or disorder.Normal results mean that a doctor can treat a patient with a standard dose of a thiopurine drug on a regular basis. Individuals with no TPMT activitycan become severely ill if treated with normal doses of thiopurine drugs. It is not used for tracking purposes, but is instead used in conjunction with complete blood count results.The results of the TPMT blood test will help to determine what method of treatment is best for an individual’s current health. Sometimes the test is ordered to measure the genetic structures that are in place supporting the TPMT activity instead. Normal results mean that a doctor can treat a patient with a standard dose of a thiopurine drug on a regular basis. For example, Prometheus (San Diego, CA) reports a range of 6.7 to 23.6 enzyme units for the intermediate group whereas those with activity greater than 23.6 enzyme units …
The phenotype blood test is much more commonly ordered than the genotype blood test. Results were similar if TPMT phenotype was used instead of genotype. The purine antimetabolites might also be used should acute lymphoblastic leukemia need to be treated. Clinical outcomes did not differ between groups. Having a heterozygous gene variation is associated with severe side effects to a thiopurine treatment in up to 60% of people who receive it, so a positive result here would lead a doctor to a different treatment for the underlying disease or disorder.Some people have a homozygous result from this blood test, which means they have two variant genes that produce almost no enzyme activity.
Your doctor will likely request that you abstain from NSAID pain relievers, certain diuretics, and benzoic acid inhibitors for at least 48 hours before the TPMT blood test. Adverse effects of azathioprine or 6-MP administration can be observed in individuals who are either homozygous or heterozygous for TPMT deficiency. These patients develop bone marrow suppression with a reduction in blood cells, which causes the patient may tolerate a low/normal dose but must be closely monitored for possible bone marrow suppression. Complete TPMT deficiency (TPMT <10 nmol/h/g Hb) indicates that there is an absolute intolerance to thiopurine drugs. Abnormal TPMT activity: 25 U/mL - Individuals are predicted to be at high risk of bone marrow toxicity as a consequence of standard thiopurine dosing; a dose reduction and therapeutic monitoring is … With this result, there is a 100% chance of developing toxicity within the bone marrow should a thiopurine drug be administered.Rare variants are not necessarily detected by this test. About one person in every 300 is severely deficient in TPMT, and about 10 per cent of the population have lower than normal levels of TPMT. Referred Test: Referred Test: Location:
It should be noted that the radiochemical assay used in our study and institution results in lower ranges for TPMT activity than identified via the high-performance liquid chromatography methods used in some laboratories. Normal TPMT activity: 25-65 U/mL - Individuals are predicted to be at low risk of bone marrow toxicity as a consequence of standard thiopurine therapy; no dose adjustment is recommended. The TPMT blood test is usually given in conjunction with a complete blood count. The overall goal is to track certain blood cells to measure the effectiveness of a treatment. In addition approximately 11% of the population have measurable but reduced levels of TPMT (so called intermediate group). There are two primary reasons for having this test ordered.Thiopurine drugs are used most often for autoimmune disorders, such as rheumatoid arthritis. Patients with intermediate TPMT levels were generally started at lower doses of thiopurine than patients with normal TPMT levels (mean [± SD] 1.0±0.6 mg/kg versus 1.8±0.5 mg/kg).
Each test has results that mean specific things.When the results are close to normal, but are still classified as low, then there is still a risk of havingg toxicity occur due to the drug treatment.
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