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Alpha 1-Antitrypsin Deficiency (AATD)

Alpha… what now? Alpha 1-antitrypsin—or AAT—might sound like made-up science fiction, but the reality is quite simple: AAT is a protein made by the liver that is passed into the bloodstream. Its purpose is to protect your lungs and help them function normally.

Alpha-1 antitrypsin deficiency—or AATD—is an inherited genetic condition that occurs when there are low—or no—levels of AAT in the blood. AATD affects 1 in 3,000–5,000 people and can result in liver and lung damage and disease. But before you panic, let’s demystify this scary-sounding deficiency a bit.

Symptoms of AATD

Alpha-1 antitrypsin deficiency symptoms can often mimic those of other common respiratory ailments, like asthma, so it’s important to talk to your doctor if you exhibit any of these symptoms—and especially if you have a known family history of AATD. In addition to respiratory symptoms, AATD can also present with liver-related symptoms. Respiratory AATD symptoms include:

  • Shortness of breath with mild activity: breathing hard during exercise is normal, but if your breathing is labored without major exertion, an alpha-1 deficiency may be to blame.
  • Wheezing during exercise: wheezing is classified as a whistling, squeaky sound when you breathe.
  • Exhaustion: we’re not talking about being a little tired. If you’re exhausted despite getting plenty of sleep, an alpha-1 antitrypsin deficiency might be why.
  • Rapid heartbeat upon standing up: if your heart starts racing just from standing up, you might have an AATD.
    Note: rapid heartbeat or other heart arrhythmia can also be a sign of more serious heart problems. If you’re concerned about your heart health, consult your primary care physician.
  • Unintentional/unexplained weight loss: if you’re losing weight without a significant change in diet or exercise, an alpha-1 antitrypsin deficiency might be a possibility.
  • Recurring chest colds: if you can’t seem to get well or shake your chest colds, talk to your physician about getting tested for AATD.

Liver-related AATD symptoms include:

  • Unexplained liver disease or elevated liver enzymes
  • Eyes/skin turning yellow
  • Abdomen or leg swelling
  • Vomiting blood

It’s important to note that just because you’re exhibiting any AATD symptoms, it doesn’t mean that you will be diagnosed with alpha-1 deficiency.

AATD Diagnosis

Your doctor will perform a physical examination, and if an alpha-1 antitrypsin deficiency is suspected, they will order a blood test. This test involves a quick and accurate blood sample test. Typically, three types of tests are performed on your blood sample:

  • Alpha-1 genotyping: this examines your genes and determines your genotype (the genetic constitution of an individual organism)
  • Alpha-1 antitrypsin PI phenotype test: this determines what type of AAT protein you have in your blood
  • Alpha-1 antitrypsin level test: this determines the amount of AAT in your blood

AATD Treatment Options

While there is no cure for AATD, treatment options can be implemented with the goal of slowing or preventing the progression of lung disease. Treatment options include:

  • Augmentation therapy

    Augmentation therapy is specifically used to treat alpha-1 related lung disease. The goal of AATD augmentation therapy is to slow the progression of the disease and reduce symptoms. Augmentation therapy uses the AAT from the plasma of healthy donors to increase the alpha-1 levels in the lungs/blood of AATD sufferers. Augmentation therapy patients receive weekly IV infusions. Augmentation therapy is ongoing and considered to be a lifelong treatment. A free
    AlphaKit test is available to find out if you might be suffering from alpha-1. Learn more about augmentation therapy and its success in AATD patients here.
  • Bronchodilators

A bronchodilator is a medication that helps widen and relax your airways to help you breathe better.

  • Antibiotics for upper respiratory infections

Quickly treating any upper respiratory infections that may occur with AATD is a good way to prevent further lung damage.

  • Lung transplants

In severe, progressed, or late-stage lung disease, a lung transplant may be considered an appropriate treatment option.

  • Annual vaccinations

Almost everyone benefits from annual pneumonia and flu vaccinations, but since AATD patients are particularly vulnerable to lung damage and disease, these vaccinations are particularly important to receive on a yearly basis.

  • Lifestyle changes

If you smoke, stop! Inhaling cigarette smoke can exacerbate breathing difficulty and other lung issues.

The Lung Docs: Specialized Pulmonary Care

The Lung Docs provides specialized, state-of-the-art pulmonary care to our patients with AATD in Chattanooga and the surrounding Southeast Tennessee and Northwest Georgia areas.

Dr. Mike’s Approach

I’m Dr. Mike Czarnecki, “The Lung Doc,” and I’m trained in all areas of pulmonary health, including the diagnosis and treatment of alpha-1 antitrypsin deficiency. I will work with you to formulate a personalized AATD treatment plan so you can live, laugh, love, and breathe better again! To get started, schedule an appointment online or call our office to speak to someone directly. I can’t wait to meet you!