- Patient Name: Ann Smith
- Race: Caucasian
- Sex: Female
- DOB: 01/29/1960
- Height: 5'4"
- Weight: 130 lbs
First office visit with new PCP
Ann is a 45 year old married Caucasian female. She has 3 children (ages 20, 18, 14), all alive and well.
Presenting Complaint
Productive cough and wheezing, increasing in severity and frequency for past 4 months.
Pertinent Past Medical History
Ann began smoking 1 pack per day at age 15, quit at age 25 when diagnosed with exercise-induced asthma. Treated periodically with bronchodilators for exercise-induced wheezing. Last course of therapy completed 6 months ago. No history of drug or alcohol abuse. No known allergies. No flu vaccine.
Family History
- Mother – Age 65. Alive and well. History of hypertension.
- Father – Age 67. Chronic emphysema, uses inhalers.
- Paternal Uncle – Age 69. Recently diagnosed with liver disease.
- Siblings:
- Brother – Age 43. Alive and well.
- Sister – Age 40. Asthma.
Occupational History
Has worked as a high school English teacher for 19 years.
Hobbies
Wood-working and furniture restoration.
Current Meds
None
Physical Exam
Wheezing, rhonchi, yellow sputum.
Treatment Plan
Antibiotics (10 days) and rescue inhaler. If no response to treatment, return to clinic in 1 week.
Second Office Visit – 1 year later
Presenting Complaint
Still has cough, rescue inhaler is increasingly less effective. Only short-term response to antibiotics.
Additional Information
Did not return for the recommended follow-up visit.
Father died recently at age 68 of complications of COPD.
Diagnostic Tests ordered:
- Chest X-ray
- Spirometry
- CBC with diff
- Chem Panel
Test Results:
- Chest X-ray: Basilar hyperlucency
- Spirometry: ↓FEV1, ↓FEV1/FVC
- CBC: WNL
- Chem Panel: mild ↑LFT
Third Office Visit
Discussion with Ann about AAT deficiency and genetic testing.
Diagnostic Tests Ordered:
- Test for AAT deficiency using Test Kit.
AAT Test Results

Diagnosis: AAT deficiency with clinically evident emphysema
Diagnosis: AAT deficiency
Recommendations for Ann:
- Augmentation Therapy
- Lifestyle Changes
- Symptomatic Treatment
- Family Testing