Emphysema is not hereditary. It usually results from smoking or exposure to other harmful lung irritants. However, a rare genetic condition called alpha-1 antitrypsin deficiency (AATD) passed down in families can cause the condition.

Emphysema is a type of chronic obstructive pulmonary disease (COPD). In emphysema, tissue damage causes the air sacs in the lungs to lose elasticity. This can cause breathing difficulties, which may lead to severe complications.

Although some other causes are more common, AATD can cause emphysema. The deficiency is hereditary, which means family members may pass on changes in specific genes that cause AATD.

This article will examine the genetic causes of emphysema in more detail. It will also explore symptoms, treatment, diagnosis, life expectancy, family planning with the condition, and when to contact a doctor.

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Although emphysema is not hereditary, family members can pass on a genetic condition called alpha-1 antitrypsin deficiency (AATD), which can cause emphysema.

Alpha-1-antitrypsin (AAT) is a protein that protects the lungs from damage and inflammation when a person inhales irritants, such as smoke and dust. The liver produces the protein, which travels through the blood to the lungs.

People who have AATD are at higher risk of lung damage from irritant inhalation, which can result in emphysema. The deficiency can also affect the liver and skin.

AATD heritability

AATD is hereditary, as people can pass down changes in the SERPINA1 gene that may result in their offspring having the condition.

If both parents pass down a changed SERPINA1 gene, their child will have AATD.

If one parent passes down a changed SERPINA1 gene, their child will become a carrier for AATD. The child will have a 25% chance of passing AATD to any children they have if their partner is also a carrier for AATD.

In the early stages of emphysema, a person may experience no symptoms or mild ones. However, symptoms can become more severe over time.

Symptoms of emphysema include:

There is no cure for emphysema, but treatment can help manage the symptoms and slow the progression of the condition.

Treatment for emphysema due to AATD is typically the same as that for other underlying causes. Treatment generally includes:

  • Lifestyle choices: These include the following:
  • Bronchodilators: These medications, which a person inhales, include steroids to reduce inflammation and beta-agonists and anticholinergics to relax the bronchial smooth muscle.
  • Oxygen therapy: A person with emphysema may require oxygen devices, such as portable or home oxygen tanks, some or all of the time.
  • Symptom treatment: Doctors may treat flares or individual symptoms of emphysema with various therapies, such as:
  • Surgery: A person with severe emphysema may require surgery to remove damaged lung tissue or receive a lung transplant.

In emphysema due to AATD, managing the condition may also involve genetic testing and genetic counseling. This can help determine if other family members are at risk of AATD and emphysema.

Help with quitting smoking

Learn more about quitting nicotine and read about whether hypnosis or medications may help.

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To diagnose emphysema, a doctor will ask questions about the following:

  • the individual’s personal and family medical history
  • their symptoms
  • their lifestyle habits

They will also perform a physical examination and may perform or order specific tests, including:

  • Imaging scans: Doctors may order imaging of the lungs, such as X-rays or CT scans.
  • Lung function tests: These include spirometry, in which a person blows as hard as they can into a device that measures their lung capacity’s forced expiratory volume in 1 second (FEV1). This can also help doctors determine the stage of emphysema.
  • Arterial blood gases (ABG) test: In some cases, a doctor may order an ABG blood test to assess the levels of specific gases in the blood. This can help determine how well the lungs are functioning.
  • AATD test: Doctors may perform tests for AATD on young people with symptoms of emphysema or those who do not smoke.

A 2021 study suggests people with COPD generally live 6 fewer years than the larger population.

However, life expectancy among people with emphysema varies widely and can depend on several factors, including:

  • the stage and severity of the condition
  • the person’s overall health and their ability to exercise
  • the presence of comorbid conditions (when a person has more than one condition at the same time)

People with emphysema who have higher AAT levels may also have a higher risk of mortality.

A person with emphysema as a result of AATD may be concerned about passing the changed genes on if they have children.

People can undergo genetic testing to determine whether their SERPINA1 gene has changes that cause AATD and to assess the likelihood that they will pass down changed copies of the gene.

Genetic testing typically involves a healthcare professional taking a blood sample from a person’s arm or finger or swabbing the inside of their cheek for a tissue sample.

AATD genetic test results

If the results show that a person has two changed copies of the SERPINA1 gene, this means they have AATD.

If a person has one changed copy of the gene, they are a carrier for AATD. This means they may pass the gene on to their children.

A genetic counselor can help people understand the risks and benefits of genetic testing, the results of their tests, and the likelihood of passing on changed copies of genes to their children.

It is important for people to contact a doctor if they have persistent symptoms of emphysema, even if they do not smoke.

People with a family history of emphysema or AATD may be at higher risk of developing emphysema than the larger population. A person may wish to undergo genetic testing for AATD if they have close family members with the condition.

Early diagnosis and treatment can lead to a more positive outlook.

COPD resources

Visit our dedicated hub for more research-backed information and in-depth resources on COPD.

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Although emphysema is not hereditary, a genetic condition called alpha-1 antitrypsin deficiency (AATD) can lead to emphysema.

With AATD, changes in a specific gene lead to a deficiency in alpha-1 antitrypsin, a protein that helps prevent lung damage from irritant inhalation. This deficiency can result in lung damage and lead to emphysema and other health complications.

Genetic testing and counseling can help a person determine their likelihood of having and passing on genes that cause AATD.