Reasons Why the Diagnosis of Alpha-1-Antitrypsin (A1AT) May Be Delayed or Missed

Description

Stoller et al identified a number of reasons why the diagnosis of alpha-1-antitrypsin (A1AT) may be delayed. The authors are from the Cleveland Clinic, Alpha-1 Foundation, St.Luke's-Roosevelt Hospital New York City and the Medical University of South Carolina.

Patient selection: alpha-1-antitrypsin deficiency

The typical patient presents with dyspnea or other pulmonary symptom with or without evidence of liver disease.

Reasons why the diagnosis may be delayed or missed:

(1) female gender

(2) older age (mean age of presentation in early 40's)

(3) provider inexperience with A1AT

Other reasons may include:

(4) asymptomatic or mild disease

(5) alternative explanation for findings available (heavy smoking, etc)

(6) no family history of AIAT

To read more or access our algorithms and calculators, please log in or register.

Description

Specialty

ICD-10