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Confirmed beta16 Arg/Arg polymorphism in a patient with uncontrolled asthma
Nicole L Metzger1, Denise R Kockler, Leigh Anne Hylton Gravatt
1Virginia Commonwealth University Health System, Medical College of Virginia Hospitals, Richmond, VA 23298, USA.
The Annals of Pharmacotherapy
|April 24, 2008
Summary
Patients with the beta(16) Arg/Arg polymorphism may experience uncontrolled asthma with short-acting beta(2)-agonists. Genotyping and considering anticholinergics may improve asthma outcomes in these individuals.
Area of Science:
- Pharmacogenomics
- Respiratory Medicine
- Clinical Genetics
Background:
- Uncontrolled asthma necessitates exploring genetic factors influencing treatment response.
- The beta(16) Arg/Arg polymorphism is prevalent in certain populations and may impact beta-agonist efficacy.
Observation:
- A patient with uncontrolled asthma and frequent short-acting beta(2)-agonist (SABA) use was found to have the beta(16) Arg/Arg genotype.
- Despite adherence to asthma medications, the patient experienced multiple exacerbations requiring hospitalization and intubation.
Findings:
- The beta(16) Arg/Arg genotype is associated with a potential decrease in sensitivity or increased desensitization to beta(2)-agonists.
- Clinical outcomes, including asthma symptoms and exacerbations, may worsen with regular SABA use in individuals with this polymorphism.
Implications:
- Beta(2)-adrenoreceptor genotyping can identify patients at risk for poor outcomes with standard asthma therapies.
- Anticholinergic medications may offer a beneficial alternative to beta(2)-agonists as a primary rescue therapy for patients with the Arg/Arg polymorphism.
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