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  • 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.

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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

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Third Office Visit

Discussion with Ann about AAT deficiency and genetic testing.

Diagnostic Tests Ordered:

  • Test for AAT deficiency using Test Kit.

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AAT Test Results



Diagnosis: AAT deficiency with clinically evident emphysema


Diagnosis: AAT deficiency
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Recommendations for Ann:

  • Augmentation Therapy
  • Lifestyle Changes
  • Symptomatic Treatment
  • Family Testing