Alpha-1 Antitrypsin Deficiency: Gene Mutation, Symptoms, Treatment, and Life Expectancy

  • Medical Reviewer: Charles Patrick Davis, MD, PhD
    Charles Patrick Davis, MD, PhD

    Charles Patrick Davis, MD, PhD

    Dr. Charles "Pat" Davis, MD, PhD, is a board certified Emergency Medicine doctor who currently practices as a consultant and staff member for hospitals. He has a PhD in Microbiology (UT at Austin), and the MD (Univ. Texas Medical Branch, Galveston). He is a Clinical Professor (retired) in the Division of Emergency Medicine, UT Health Science Center at San Antonio, and has been the Chief of Emergency Medicine at UT Medical Branch and at UTHSCSA with over 250 publications.

What's the prognosis and life expectancy for a person with AATD?

The prognosis of a genetic condition includes its likely course, duration, and outcome. When health professionals refer to the prognosis of a disease, they may also mean the chance of recovery; however, most genetic conditions are life-long and are managed rather than cured.

Disease prognosis has multiple aspects, including:

  • How long a person with the disorder is likely to live (life expectancy)
  • Whether the signs and symptoms worsen (and how quickly) or are stable over time
  • Quality of life, such as independence in daily activities
  • Potential for complications and associated health

The prognosis of a genetic condition depends on many factors, including the specific diagnosis and an individual's particular signs and symptoms. Sometimes the associated genetic change, if known, can also give clues to the prognosis. Additionally, the course and outcome of a condition depends on the availability and effectiveness of treatment and management approaches. The prognosis of very rare diseases can be difficult to predict because so few affected individuals have been identified. Prognosis may also be difficult or impossible to establish if a person's diagnosis is unknown.

The prognoses of genetic disorders vary widely, often even among people with the same condition. Some genetic disorders cause physical and developmental problems that are so severe they are incompatible with life. These conditions may cause a miscarriage of an affected embryo or fetus, or an affected infant may be stillborn or die shortly after birth. People with less severe genetic conditions may live into childhood or adulthood but have a shortened lifespan due to health problems related to their disorder. Genetic conditions with a milder course may be associated with a normal lifespan and few related health issues.

The prognosis of a disease is based on probability, which means that it is likely but not certain that the disorder will follow a particular course. Your healthcare provider is the best resource for information about the prognosis of your specific genetic condition. He or she can assess your medical history and signs and symptoms to give you the most accurate estimate of your prognosis.

Where can I find information about treatment for alpha-1 antitrypsin deficiency?

These resources address the management of alpha-1 antitrypsin deficiency and may include treatment providers.

  • Gene Review: Alpha-1-Antitrypsin Deficiency

SOURCES:

NIH; GARD. "Alpha-1 antitrypsin deficiency." Updated: Apr, 06, 2016.
<https://rarediseases.info.nih.gov/diseases/5784/alpha-1-antitrypsin-deficiency>

NIH; Genetics Home Reference. "alpha-1 antitrypsin deficiency." Updated: Jun 13, 2017.
<https://ghr.nlm.nih.gov/condition/alpha-1-antitrypsin-deficiency>

Medically Reviewed by a Doctor on 6/22/2017

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