Connect with others who understand.

sign up log in
About MyCOPDTeam

What Is Genetic COPD (Alpha-1)?

Updated on May 17, 2021
Medically reviewed by
Anna C. Edens Hurst, M.D., M.S.
Article written by
Nyaka Mwanza

  • Alpha-1-antitrypsin deficiency, known as alpha-1 or AATD, is a hereditary condition caused by a genetic mutation.
  • Alpha-1 can cause lung disease that is sometimes referred to as genetic COPD.
  • Alpha-1 is a chronic condition with no cure, but treatments and lifestyle changes can significantly slow its progression.
  • Early diagnosis and treatment are important to prevent permanent damage to the lungs and liver.

Alpha-1-antitrypsin protein deficiency, also known as AATD or alpha-1, is a genetic disorder that runs in families. An estimated 90 percent of those with alpha-1 do not know they have it. For those who seek medical care for symptoms, it often takes years to arrive at the correct diagnosis of alpha-1. Its symptoms are easily mistaken for other conditions, and alpha-1 is often misdiagnosed.

Since alpha-1 causes lung damage that often leads to chronic obstructive pulmonary disease (COPD), it is sometimes referred to as genetic COPD. Problems with lung function are often an early symptom of alpha-1 and may lead doctors to order lung function tests. However, doctors cannot diagnose alpha-1 based on symptoms or a medical exam. Diagnosing genetic COPD requires a simple blood test to check for the genetic mutation that causes alpha-1-antitrypsin deficiency.

What Is Alpha-1-Antitrypsin Deficiency?

Alpha-1 disrupts the production of alpha-1-antitrypsin (AAT), a key protective protein. When someone is deficient in AAT, it leaves the body susceptible to damage and disease, especially in the lungs and the liver.

People with alpha-1 are at much higher risk for developing COPD and chronic liver disease. High exposure to toxins and pollutants, such as cigarette smoking, living with secondhand cigarette smoke, or working around diesel fumes, can impact people with alpha-1 much more severely than those without the genetic condition.

Alpha-1 is incurable. The good news is that AATD is manageable and treatable, especially if diagnosed early. The damage to lung tissue, the liver, and the blood vessels that service them accumulates over time. Early intervention can prevent irreversible organ damage.

What Causes AAT Deficiency?

A mutation on the SERPINA1 gene causes a deficiency of the alpha-1-antitrypsin (AAT) protein. AAT is a serine protease inhibitor (serpin) produced in the liver. AAT is released into the blood and travels to the lungs, where it blocks the breakdown of lung tissue by a protein (neutrophil elastase) that white blood cells produce when the lung is exposed to toxins and irritants. A genetic mutation in people with alpha-1 disrupts production of AAT. The alpha-1 mutation results in insufficient levels of AAT either being produced or entering circulation. Absent or deficient AAT can impact liver function and leave the lungs without protection from toxins.

Alpha-1 and Lung Disease

COPD is one of the leading causes of death in America. Approximately 15 million to 16 million people are living with types of COPD, such as chronic bronchitis, emphysema, and bronchiectasis. As many as 10 percent of people with COPD also have AAT deficiency, and up to 2 percent have severe alpha-1.

These figures are likely even higher since both COPD and alpha-1 often go undiagnosed. Scientists believe as many as 95 percent of people with alpha-1 do not know they have it. It’s estimated that half of all people with COPD are undiagnosed or unaware they have the condition. One study found that an alpha-1 diagnosis took an average of 5.5 to 8.3 years. During these years-long delays, irreversible damage can accumulate, and alpha-1 symptoms can worsen.

Noticeable signs of alpha-1-related lung problems aren’t usually present until adulthood. Symptoms usually appear between ages 20 and 50. Because wheezing is a common symptom and alpha-1-related lung conditions may respond well to asthma treatment, alpha-1 is commonly mistaken for asthma.

Alpha-1 makes the lungs more susceptible to respiratory illness, irritation, and inflammation. The lungs of someone with alpha-1 are also more sensitive to environmental irritants and toxins. People with alpha-1 are at increased risk for COPD that starts earlier in life and progresses swiftly. People without alphal-1, even those who have smoked for years, usually don’t develop COPD until they’re well over 60 years old. People with alpha-1 tend to experience COPD at a much younger age, around 30 or 40.

Alpha-1 and Other Health Conditions

AAT deficiency can affect the liver and skin, as well as the lungs.

Liver Disease

People with alpha-1 have a 30 percent to 40 percent chance of developing liver disease, especially after age 50. Liver disease is the second most common condition linked to alpha-1. Liver disease includes active or chronic hepatitis or cirrhosis, and a type of liver cancer called hepatocellular carcinoma. Alpha-1 can cause excess amounts of AAT to build up in the liver. Symptoms of liver problems can develop in infants, children, or adults with alpha-1.

Alpha-1 effects and symptoms vary, and the severity of resulting liver disease does too. Some people with alpha-1 won’t experience liver issues at all; some will have severe liver problems.

Alpha-1 is the leading genetic cause of pediatric liver disease and liver transplant surgery in children. About 1 in 20 infants and children with alpha-1 will get liver disease. Jaundice, recognizable by the characteristic yellow eyes and skin color it causes, is a common symptom. Other signs of alpha-1 related to liver disease in infancy are abdominal swelling, enlarged liver, and slow growth.

In children and teens, alpha-1 may look like poor appetite, liver dysfunction, and low energy. Symptoms of alpha-1 related liver disease in adults include bruising or bleeding easily, jaundice, fatigue, nausea, loss of appetite, and diarrhea. Fifteen percent of people with alpha-1 develop cirrhosis, scarring of the liver.

More often than not, children and adults with alpha-1 have no symptoms of liver disease. This variability is one of the reasons genetic COPD is challenging to diagnose.

Panniculitis

Panniculitis is a rare skin condition and a less common manifestation of alpha-1. Panniculitis only affects 1 in 1,000 people with a certain type of alpha-1. Fewer than 100 cases of panniculitis in people with alpha-1 have been documented in medical literature in the last 50 years.

Panniculitis starts as small, hard, inflamed lesions under the skin — mostly on the torso, arms, and legs. If the lesions deepen and become ulcerative, the condition is known as necrotizing panniculitis. Panniculitis can also cause fevers.

Who Is at Risk for Alpha-1?

Alpha-1 is a very rare disease, although it is thought to be underrecognized and underdiagnosed. Around 100,000 people in the United States and 125,000 people in Europe have alpha-1. Alpha-1 genetic COPD is considered a late-onset condition, as it is usually diagnosed in older people. Genetic COPD can affect people of all ages, genders, and ethnicities. Alpha-1 is more common among people of European ancestry, and a person is more likely to have it if they have a family history of the disorder — especially in first-degree relatives like siblings, parents, or children.

If you have COPD, there’s a chance you may have alpha-1. Regardless of your age and whether or not you smoke, it is recommended that you be tested for alpha-1.

Alpha-1 and Women

Alpha-1 affects men and women equally, but there is evidence that it takes between two and four years longer for women to receive a diagnosis of alpha-1. COPD has long been considered a condition of older men. Today, COPD is more prevalent in women than in men. A large gender discrepancy exists in COPD diagnosis, risk, and death. In fact, the number of women diagnosed with COPD has quadrupled in the last 20 years.

Screening for Alpha-1

In July 2016, the COPD Foundation issued a set of guidelines around alpha-1 treatment that includes recommendations for screening and testing. Those who are diagnosed with alpha-1 may be encouraged to receive genetic counseling.

Catching the early symptoms of alpha-1 and confirming a diagnosis means starting treatment sooner, reducing irreversible damage, and slowing disease progression. To reduce diagnostic delays, the clinical practice guidelines from the COPD Foundation encourage people with a high risk for AATD to be screened. Those at high risk for genetic COPD include:

  • People who have COPD
  • People who have unexplained or early-onset liver disease
  • Family members of people with alpha-1

Learn more about screening for genetic COPD.

How Is Alpha-1 Treated?

The primary treatment goal for alpha-1 is usually slowing disease progression. The clinical guidelines for alpha-1 recommend people start combating the condition as soon as possible after they’re diagnosed. There are a variety of treatments for the symptoms and effects of alpha-1.

Augmentation Therapy

Augmentation therapy is the only treatment approved by the U.S. Food and Drug Administration (FDA) to treat alpha-1 specifically. Augmentation therapy is designed to increase the amount of AAT in the body. This augmentation, or addition, of AAT can minimize the negative effects of AAT deficiency. Augmentation involves introducing AAT proteins by intravenous (IV) infusion. Augmentation therapy does not treat alpha-1-related liver disease.

Other Treatments

Managing alpha-1 largely consists of controlling and minimizing its symptoms and treating any related conditions. For instance, genetic COPD might call for supplementary oxygen. In severe cases of alpha-1, a liver transplant may be necessary. Many treatments for genetic COPD are the same as those used to treat other types of COPD.

Medication

Some medications used in treating alpha-1 include:

  • Bronchodilators to expand the airways
  • Corticosteroids to reduce inflammation of the airways
  • Antibiotics to treat infections

Surgery

Most lung surgeries aren’t used to treat alpha-1. However, in severe cases, a partial or full lung transplant may be necessary.

Pulmonary Rehabilitation

Pulmonary rehabilitation (PR) is a customized therapy program of exercise and education. PR is designed to improve overall lung functionality and capacity. It also better enables a person to exercise independently, which can greatly improve quality of life. PR may also improve alpha-1 treatment outcomes.

Lifestyle Changes

The most important action you can take if you have alpha-1 is to stop smoking and avoid secondhand smoke. Smoking (including tobacco products, nicotine replacements, and other inhalants) increases the risk of developing or worsening COPD. Smoking also exacerbates the symptoms of alpha-1 and hastens disease progress. Exercise and proper nutrition are also recommended as part of a holistic treatment plan for alpha-1.

Read more about treatments for COPD.

References
  1. Alpha-1 antitrypsin deficiency — NIH National Heart, Lung, and Blood Institute
  2. What Is Alpha-1? — Alpha-1 Foundation
  3. The Liver and Alpha-1 Brochure — Alpha-1 Foundation
  4. Alpha-1 Antitrypsin Deficiency — A Guide for the Recently Diagnosed — Alpha-1 Foundation
  5. Genetic Counseling Program A Guide for Patients — Alpha-1 Foundation
  6. Treatment — Alpha-1 Foundation
  7. What Is Alpha-1 antitrypsin deficiency — AlphaID.com
  8. Alpha-1 antitrypsin deficiency — American Liver Foundation
  9. What Is Alpha-1 Antitrypsin Deficiency? — American Thoracic Society
  10. Chronic Obstructive Pulmonary Disease (COPD) Fact Sheet — American Thoracic Society
  11. Oxygen Therapy Fact Sheet — American Thoracic Society
  12. Work-Related Lung Diseases — American Thoracic Society
  13. Pulmonary Rehabilitation — American Thoracic Society
  14. What Is Lung Transplantation? Fact Sheet — American Thoracic Society
  15. Lung Transplantation in Children Fact Sheet — American Thoracic Society
  16. Pulmonary Function Tests Fact Sheet — American Thoracic Society
  17. Chronic Obstructive Pulmonary Disease COPD — Centers for Disease Control (CDC)
  18. Alpha-1 Antitrypsin Deficiency (AATD) — Cincinnati Children's Hospital
  19. Oxygen Therapy — COPD Foundation
  20. Clinical Guidelines to Help Diagnose and Treat 'Genetic COPD' — COPD Foundation
  21. Alpha-1 antitrypsin Deficiency Factsheet — European Lung Foundation
  22. Influence of Sex on Chronic Obstructive Pulmonary Disease Risk and Treatment Outcomes — International Journal of Chronic Obstructive Pulmonary Disease
  23. Early-Onset Chronic Obstructive Pulmonary Disease Is Associated With Female Sex, Maternal Factors, and African American Race in the COPDGene Study — American Journal of Respiratory and Critical Care Medicine
  24. The Important Role of Primary Care Providers in the Detection of Alpha-1 Antitrypsin Deficiency — Postgraduate Medicine
  25. Clinical Practice Guidelines The Diagnosis and Management of Alpha-1 Antitrypsin Deficiency in the Adult — Journal of the COPD Foundation
  26. Alpha-1 Antitrypsin Deficiency — National Organization for Rare Disorders (NORD)
  27. Alpha-1 Antitrypsin Deficiency — Genetic and Rare Diseases Information Center (GARD)
  28. Chronic Obstructive Pulmonary Disease COPD — Office of Women's Health — U.S Department of Health and Human Services (DHS)
  29. Testing for Alpha-1 — Alpha-1 Foundation
  30. Taking Her Breath Away: The Rise of COPD in Women — The American Lung Association
  31. Alpha-1 Antitrypsin Deficiency — The Childhood Liver Disease Research Network (ChiLDReN)
Anna C. Edens Hurst, M.D., M.S. specializes in general pediatrics as well as medical genetics. Review provided by VeriMed Healthcare Network. Learn more about her here.
Nyaka Mwanza has worked with large global health nonprofits focused on improving health outcomes for women and children. Learn more about her here.

A MyCOPDTeam Member said:

Hi Deborah, let me know how that works!

posted 2 months ago

hug (1)

Recent articles

To determine how you can reduce your medical expenses, MyCOPDTeam sat down with Susan Null of...

How To Reduce Medical Bills: Top Financial Expert Shares 10 Tips

To determine how you can reduce your medical expenses, MyCOPDTeam sat down with Susan Null of...
Because the physical impact of chronic obstructive pulmonary disease (COPD) can be all-consuming,...

How COPD Can Affect Your Mental Health

Because the physical impact of chronic obstructive pulmonary disease (COPD) can be all-consuming,...
MyCOPDTeam created a series of free pulmonary rehabilitation videos with respiratory therapist...

4 in 5 MyCOPDTeam Members Say Pulmonary Rehab Exercises Gave Them Confidence To Leave the House

MyCOPDTeam created a series of free pulmonary rehabilitation videos with respiratory therapist...
Right now our society is facing a rapidly spreading disease, the novel coronavirus, also known...

COPD Flares vs. COVID-19 Symptoms: Knowing the Difference

Right now our society is facing a rapidly spreading disease, the novel coronavirus, also known...
The term emphysema is often used interchangeably with chronic obstructive pulmonary disease...

Emphysema — An Overview

The term emphysema is often used interchangeably with chronic obstructive pulmonary disease...
Chronic bronchitis and emphysema are two conditions found in people with chronic obstructive...

Chronic Bronchitis vs. Emphysema: What's the Difference?

Chronic bronchitis and emphysema are two conditions found in people with chronic obstructive...
MyCOPDTeam wanted to understand what members thought about telehealth. Prior to the pandemic,...

MyCOPDTeam Members’ Attitudes Toward Online Doctors’ Visits

MyCOPDTeam wanted to understand what members thought about telehealth. Prior to the pandemic,...
Emphysema symptoms are not usually noticeable until 50 percent of a person’s lung tissue has...

Emphysema Symptoms To Watch For: Could You Have Alpha-1?

Emphysema symptoms are not usually noticeable until 50 percent of a person’s lung tissue has...
Alpha-1-antitrypsin deficiency, sometimes called genetic COPD, is an inherited genetic disorder...

Screening for Genetic COPD (Alpha-1)

Alpha-1-antitrypsin deficiency, sometimes called genetic COPD, is an inherited genetic disorder...
Chronic obstructive pulmonary disease (COPD) is a chronic lung disease that limits lung function...

Stem Cell Therapy for COPD: What To Know

Chronic obstructive pulmonary disease (COPD) is a chronic lung disease that limits lung function...
MyCOPDTeam My COPD Team

Two Ways to Get Started with MyCOPDTeam

Become a Member

Connect with others who are living with COPD. Get members only access to emotional support, advice, treatment insights, and more.

sign up

Become a Subscriber

Get the latest articles about COPD sent to your inbox.

Not now, thanks

Privacy policy
MyCOPDTeam My COPD Team

Thank you for signing up.

close