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Published on: June 21, 2018
Multiple adverse drug reactions and genetic polymorphism testing: A case report with negative result
Ana Lucía Arellano1, Marta Martin-Subero, Mar Monerris
1Department of Clinical Pharmacology, Hospital Universitari Germans Trias i Pujol, Barcelona Department of Pharmacology, Therapeutics, and Toxicology, Universitat Autònoma de Barcelona, Barcelona Department of Psychiatry, Hospital Universitari Germans Trias i Pujol, Barcelona FIDMAG Research Foundation, Barcelona Department of Anesthesiology and Reanimation, Pain Unit, Hospital Universitari Germans Trias i Pujol, Barcelona CICAB Clinical Research Center, Extremadura University Hospital and Medical School, Badajoz, Spain.
Genetic testing for CYP2D6 enzyme variations did not explain a patient's multiple adverse drug reactions (ADR). However, pharmacogenetic testing remains a valuable tool for diagnosing ADR in select patients.
Area of Science:
- Pharmacogenomics
- Drug Metabolism
- Clinical Pharmacology
Background:
- Adverse drug reactions (ADR) can stem from genetic variations in drug metabolism.
- Investigating the cytochrome P450 family 2 subfamily D member 6 (CYP2D6) pathway is crucial for understanding drug response.
Observation:
- A patient experienced psychosis and hypertension linked to amitriptyline, tramadol, and duloxetine within two years.
- These drugs share a common hepatic metabolic pathway involving CYP2D6.
Findings:
- Pharmacogenetic testing was conducted to evaluate the CYP2D6 enzyme's role in the patient's ADR.
- The test results did not reveal a metabolic deficiency in the CYP2D6 enzyme for this patient.
Implications:
- While negative in this case, CYP450 isoenzyme polymorphism typing can be a useful diagnostic approach for some patients with recurrent ADR.
- Personalized medicine approaches, including pharmacogenetics, are essential for optimizing drug therapy and patient safety.
Related Concept Videos
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Drug toxicity: Idiosyncratic Reactions
Pharmacogenetics of Drug Metabolism: Overview
Drug Toxicity: Risk factors
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Principles of Pharmacogenetics: Types of Genetic Variants

