Alpha 1-antitrypsin deficiency history and symptoms

Jump to navigation Jump to search

Alpha 1-antitrypsin deficiency Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Alpha 1-antitrypsin deficiency from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications, and Prognosis

Diagnosis

History and Symptoms

Physical Examination

Laboratory Findings

Electrocardiogram

X Ray

CT

MRI

Ultrasound

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Alpha 1-antitrypsin deficiency history and symptoms On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Alpha 1-antitrypsin deficiency history and symptoms

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Alpha 1-antitrypsin deficiency history and symptoms

CDC on Alpha 1-antitrypsin deficiency history and symptoms

Alpha 1-antitrypsin deficiency history and symptoms in the news

Blogs on Alpha 1-antitrypsin deficiency history and symptoms

Directions to Hospitals Treating Alpha 1-antitrypsin deficiency

Risk calculators and risk factors for Alpha 1-antitrypsin deficiency history and symptoms

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [2]

Overview

Alpha 1-antitrypsin deficiency (A1AD) may have delayed onset of symptoms newborns. As a patient ages, liver dysfunction and deterioration will occur. The hallmark of AATD is dyspnea. A positive history of dyspnea and liver cirrhosis or chronic hepatitis is suggestive of AATD. The presentation of disease varies depending on the type of mutation associated with AATD. Symptoms of alpha-1 antitrypsin deficiency include shortness of breath, wheezing, rhonchi and rales associated with recurring respiratory infections and obstructive asthma that does not respond to treatment.

Histroy and Symptoms

  • Patients that smoke regularly develop dyspnea about 10 years earlier when compared to patients who do not smoke.
  • Dyspnea occurs with strenuous exercise initially but eventually results in limitation of mild activities with disease progession.
  • It is important to have a high level of suspicion for AATD in the differential diagnosis as the presentation is very similar to some of the common illnesses such as asthma, COPD, or chronic cough.
  • Symptoms of alpha-1 antitrypsin deficiency include:

References

  1. American Thoracic Society, Guidelines for the approach to the patient with severe hereditary alpha-1-antitrypsin deficiency, Am Rev Respir Dis 1989; 140: 1494-1497.
  2. Eriksson, S. Alpha 1 – antitrypsin Deficiency: Lessons Learned from the Bedside to the Gene and Back Again: Historic Perspectives, Chest 1989; 95: 181-189. PMID 2642407
  3. Rovner, M.S., Stoller, J.K., Treatment of alpha-1 antitrypsin deficiency, in UpToDate, January 12, 1998.
  4. Stoller, J.K., Clinical Features and Natural History of Severe alpha-1 Antitrypsin Deficiency, Chest 1997; 111: 123s-128s. PMID 9184559
  5. Stoller, J.K., Extrapulmonary manifestations of alpha-1 antitrypsin deficiency, in UpToDate, March 13, 1997.
  6. Stoller, J.K., Clinical manifestations and natural history of alpha-1 antitrypsin deficiency, in UpToDate, January 3, 1997.


Template:WikiDoc Sources