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What is Alpha 1-Antitrypsin Deficiency?

What is Alpha 1-Antitrypsin Deficiency?

  • Alpha 1-Antitrypsin Deficiency: A rare disorder characterized by the development of lung disease in adults and liver disease in adults and children.
  • Alpha 1-Antitrypsin Deficiency: Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN, leading primarily to degradation of elastin of the alveolar walls, as well as other structural proteins of a variety of tissues. (From Scriver, Beaudet, Sly, & Valle, The Metabolic and Molecular Bases of Inherited Disease, 7th ed, p4125)
    Source - Diseases Database

Alpha 1-Antitrypsin Deficiency is listed as a "rare disease" by the Office of Rare Diseases (ORD) of the National Institutes of Health (NIH). This means that Alpha 1-Antitrypsin Deficiency, or a subtype of Alpha 1-Antitrypsin Deficiency, affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)

Ophanet, a consortium of European partners, currently defines a condition rare when it affects 1 person per 2,000. They list Alpha 1-Antitrypsin Deficiency as a "rare disease".
Source - Orphanet

Alpha 1-Antitrypsin Deficiency: Introduction

How many people get Alpha 1-Antitrypsin Deficiency?

Prevalance of Alpha 1-Antitrypsin Deficiency: 1 per 5,000 - 7,000 people suffer from alpha-1 antitrypsin deficiency in North America, Genetics Home Reference website
Prevalance Rate of Alpha 1-Antitrypsin Deficiency: approx 1 in 5,000 or 0.02% or 54,400 people in USA [about data]

How serious is Alpha 1-Antitrypsin Deficiency?

Complications of Alpha 1-Antitrypsin Deficiency: see complications of Alpha 1-Antitrypsin Deficiency

What causes Alpha 1-Antitrypsin Deficiency?

Causes of Alpha 1-Antitrypsin Deficiency: see causes of Alpha 1-Antitrypsin Deficiency

What are the symptoms of Alpha 1-Antitrypsin Deficiency?

Symptoms of Alpha 1-Antitrypsin Deficiency: see symptoms of Alpha 1-Antitrypsin Deficiency

Complications of Alpha 1-Antitrypsin Deficiency: see complications of Alpha 1-Antitrypsin Deficiency

Can anyone else get Alpha 1-Antitrypsin Deficiency?

Inheritance: see inheritance of Alpha 1-Antitrypsin Deficiency

Alpha 1-Antitrypsin Deficiency: Testing

Misdiagnosis: see misdiagnosis and Alpha 1-Antitrypsin Deficiency.

How is it treated?

Treatments for Alpha 1-Antitrypsin Deficiency: see treatments for Alpha 1-Antitrypsin Deficiency
Research for Alpha 1-Antitrypsin Deficiency: see research for Alpha 1-Antitrypsin Deficiency

Name and Aliases of Alpha 1-Antitrypsin Deficiency

Main name of condition: Alpha 1-Antitrypsin Deficiency

Other names or spellings for Alpha 1-Antitrypsin Deficiency:

AAT deficiency

AAT deficiency
Source - Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

Research the causes of these diseases that are similar to, or related to, Alpha 1-Antitrypsin Deficiency:


 » Next page: Prevalence and Incidence of Alpha 1-Antitrypsin Deficiency

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