Alpha-1 antitrypsin deficiency
Cathy R. Kessenich PhD, ARNP
Kathryn Bacher BSN, RN

The Nurse Practitioner
July 2014 
Volume 39  Number 7
Pages 12 - 14
  PDF Version Available!

Ms. D is a 47-year-old woman who works as a surgical technician at a local hospital. She is generally healthy; however, her current weight is 25 lb (11.3 kg) more than her weight at age 37. Her current BMI is 27, which is above average. Because of this, she recently began a diet and exercise program. A month after starting her exercise plan, she developed a cough and some shortness of breath. Ms. D made an appointment to see a nurse practitioner (NP) who diagnosed her with allergic rhinitis and prescribed oral antihistamines and an intranasal corticosteroid.She returned to the clinic after a month on this therapy and revealed that her cough and shortness of breath had not improved. She further stated that her shortness of breath worsened during exercise. Expiratory wheezes were detected throughout the posterior lung fields during the physical exam. Results of peak flow testing revealed decreased expiratory effort. The remainder of the physical exam was normal. She was diagnosed with asthma and given a prescription for a leukotriene receptor antagonist and a short-acting beta2-agonist. She was advised to return to the clinic in 1 month.Upon return, Ms. D stated that her cough and respiratory symptoms were not improved with the added medications. Additionally, she was cutting back on her exercise due to her continued shortness of breath. Ms. D also noted that her sister had recently been diagnosed with a genetic respiratory problem after difficulty breathing for many years. According to Ms. D, several first-degree relatives had a history of chronic obstructive pulmonary disease (COPD) as well. The NP had not ordered lab work during previous visits but this time decided to order serum allergy panels (both environmental and food) as well as an alpha-1 antitrypsin level.Alpha-1 antitrypsin is a glycoprotein produced in hepatocytes as well as in phagocytes and lung epithelial cells in smaller quantities.1,2 Alpha-1 antitrypsin's main function is to defend the tissues against

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