Alpha-1 Antitrypsin Deficiency

Feed

Collections

Groups

Contributors

Partners

Join the Conversation on
Alpha-1 Antitrypsin Deficiency

397 people

0 stories

134 posts

About Alpha-1 Antitrypsin Deficiency Show topic details

#Alpha1AntitrypsinDeficiency#A1AT

What is alpha-1 antitrypsin deficiency (A1AT)?

Alpha-1 antitrypsin deficiency, also called A1AT, AAT deficiency, and alpha-1, is a rare genetic disorder that causes low levels of the protein alpha-1 antitrypsin in the blood. A1AT can cause lung and liver disease. Approximately one in 1,500 to 3,500 individuals with European ancestry have A1AT, but it is estimated that 185 million people worldwide are carriers. A1AT is likely underdiagnosed, with some people with the deficiency never receiving a diagnosis or being diagnosed with chronic obstructive pulmonary disease (COPD) without an underlying cause. Others are misdiagnosed with asthma.

What are the symptoms of A1AT?

The symptoms of lung disease caused by A1AT are very similar to those caused by COPD. The symptoms usually start between the ages of 30 and 50 and can include the following:

Shortness of breath (dyspnea)
Wheezing
Chronic cough, usually with mucus
Recurrent chest colds and other respiratory infections
Exercise intolerance
Fatigue
Unintentional weight loss

Approximately 10% of infants and 15% of adults with A1AT develop liver disease. Signs and symptoms of this manifestation of A1AT include the following:

Yellowing of the skin and eyes (jaundice)
Itchy skin
Swelling of the abdomen (ascites) or legs and feet
Blood in vomit or stool
Unexplained elevated liver enzymes
Fatigue
Loss of appetite
Unintentional weight loss

In rare cases, A1AT can lead to panniculitis, a skin condition characterized by patches of painful, hard, red bumps that may leak fluid or pus.

What causes A1AT?

A1AT is caused by mutations in the SERPINA1 gene. This gene codes the protein alpha-1 antitrypsin, also called AAT, which protects healthy tissue from being attacked by neutrophil elastase, an enzyme white blood cells release to fight infection, especially in the lungs. If not controlled by alpha-1 antitrypsin, neutrophil elastase will finish fighting the infection and then attack healthy cells. Variants in the SERPINA1 gene can cause a shortage of alpha-1 antitrypsin or create an abnormal version of the alpha-1 antitrypsin protein. Without a normal level of functioning alpha-1 antitrypsin, there is nothing to stop neutrophil elastase from fighting healthy tissue and damaging the alveoli in the lungs, causing lung diseases such as emphysema. The AAT protein is primarily produced in the liver. Abnormal AAT cannot be released by the liver and move to the lungs at a normal rate, which causes a buildup of abnormal protein in the liver that can lead to scarring and disease (cirrhosis). A1AT is inherited in an autosomal codominant pattern, which means that two different versions (alleles) of the SERPINA1 gene can be expressed at the same time and both alleles influence how someone makes alpha-1 antitryptase. The most common allele, M, produces normal levels of the alpha-1 antitrypsin protein, and most people will have two M genes (MM), meaning they do not have A1AT. The S allele produces low levels of the protein and the Z allele produces even less than that. The most common gene combination in people who have been diagnosed with A1AT is ZZ. Approximately 185 million people worldwide are either MS or MZ. These people are carriers of A1AT and are still at an increased risk of lung damage and disease. A diagnosis of A1AT starts with a blood test measuring the level of alpha-1 antitryptase in a person’s blood. If those levels are low, then genetic testing is performed to find any mutations related to A1AT. Lung and liver function tests and imagining are also done to assess any damage A1AT might have caused.

How do you treat A1AT?

While there is no cure for A1AT, treatment is available depending on a person’s symptoms and the extent of damage to their liver and lungs. If someone has lung conditions caused by A1AT, then their doctor can treat them with medications used for COPD, such as bronchodilators and pulmonary rehabilitation. If someone has severe A1AT that has caused emphysema, then they may receive augmentation therapy. In augmentation therapy, normal alpha-1 antitrypsin protein is taken from healthy donor blood plasma and given to someone with A1AT via intravenous (IV) infusion, which then increases (augments) the levels of alpha-1 antitrypsin in the recipient’s blood and lungs. Augmentation therapy cannot reverse lung damage that has already happened, but it can prevent further lung damage, however it does not prevent liver damage. A person with lung disease caused by A1AT may receive oxygen therapy, inhaled corticosteroids, and, if they are unable to stop smoking, smoking cessation therapy. In some cases of extreme lung or liver damage, a transplant may be recommended. It’s important for people with A1AT to have regular appointments with their medical providers and receive the appropriate vaccinations, as well as avoid exposure to inhaled irritants and pollutants, such as cigarette smoke. The prognosis for A1AT varies widely from person to person. Some people with A1AT may experience little to no symptoms while others could experience severe complications. It’s important for everyone with A1AT to work with their doctor to create an individualized treatment plan. Information provided in part by MedlinePlus, Cleveland Clinic, and the Alpha-1 Foundation.

Explore Our Newsletters

Alpha-101: The Basics

Did you know about 1 in 5,000 Americans live with A1AT? If you want to learn more about this rare condition, start here.

All About Alpha-1 Research

Looking for basic clinical information about A1AT? From causes to potential health complications and comorbidities, we got you!

A1AT Patient Advocacy Organizations

Alpha-1 may be a rare disease, but support is out there. Check out these advocacy organizations dedicated to helping those affected by A1AT.

A1AT and Liver Disease

Alpha-1 can cause liver disease in children and adults. Whether it's for yourself or a loved one, there's plenty of resources to explore.

A1AT and Lung Disease

Alpha-1 can cause serious lung disease. Learn more about the relationship between Alpha-1 and your lungs here.

Hear From A1AT Patients

We believe so strongly in centering the patient voice. This collection features resources written and curated by folks living with A1AT.

The Reality of Living With Rare Disease

"It's not easy to treat something your physicians don't fully understand." This collection goes out to anyone who just nodded their head.

Trials and Treatments for Rare Disease

The bitter truth: Rare disease treatments are hard to come by and the demand for clinical trials is high. These stories offer solidarity.

Rare Disease and Relationships

From friendship to marriage, these stories serve up advice & raw insights into relationships when there's a rare disease in the picture.

Where Rare Disease & Mental Health Meet

It may feel impossible to accept a diagnosis that most haven't heard of. Note to self: Your mental health is just as important to care for.

Managing Health Care With Rare Disease

What's it like to navigate health care when you're constantly having to educate (and spell) your disease to others? Right this way.

Parenting Children With Rare Disease

Rare disease families have a unique bond. These stories will lead you through the entire emotional spectrum: from diagnosis to daily life.

Alpha-1 Antitrypsin Deficiency

What is alpha-1 antitrypsin deficiency (A1AT)?

What are the symptoms of A1AT?

What causes A1AT?

How do you treat A1AT?

Collections for Alpha-1 Antitrypsin Deficiency