General FAQ:

Patient Related FAQ:

What is Alpha-1?

Alpha-1 Antitrypsin Deficiency (Alpha-1) is a hereditary condition that is passed on from parents to their children through genes. This condition may result in serious lung disease in adults and/or liver disease in infants, children and adults.

Alpha-1 occurs when there is a severe lack of a protein in the blood called alpha-1 antitrypsin (AAT) that is mainly produced by the liver. The main function of AAT is to protect the lungs from inflammation caused by infection and inhaled irritants such as tobacco smoke. The low level of AAT in the blood occurs because the AAT is abnormal and cannot be released from the liver at the normal rate. This leads to a build up of abnormal AAT in the liver that can cause liver disease. For more information, download this brochure: What is Alpha-1 Antitrypsin Deficiency?
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What are the most common symptoms of Alpha-1?

Symptoms related to the lungs:

  • Shortness of breath
  • Wheezing
  • Chronic cough and sputum (phlegm) production
  • Recurring chest colds

Symptoms related to the liver:

  • Eyes and skin turning yellow (jaundice)
  • Swelling of the abdomen (ascites)
  • Vomiting blood or passing blood in the stool
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What is Alpha-1 Deficiency Testing? How can I be tested?

Testing for Alpha-1 is fairly simple, quick, and highly accurate. It is done through a blood test or a mouth swab test. People at risk for Alpha-1 should be tested. Click here for more information on testing options.
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Who should be tested for Alpha-1?

Everyone with emphysema, chronic obstructive pulmonary disease (COPD), chronic bronchitis or asthma that is incompletely reversible after aggressive treatment.

  • Individuals with bronchiectasis
  • Newborns, children and adults with unexplained liver disease
  • Individuals with a family history of liver disease
  • Blood relatives of a person diagnosed with Alpha-1
  • Anyone with panniculitis, a skin disease
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How long does it take to get test results back?

After the sample is received at GeneAidyx for processing, results are typically ready in 4-8 business day.
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Why should relatives be tested?

If you have Alpha-1, your immediate relatives, your children, parents, brothers, and sisters are at greater risk of having the same deficiency genes. Other relatives who have lung or liver disease are also considered at greater risk. Your relatives may also have one or two Alpha-1 genes and not be aware of their own health risks. If they learn they have Alpha-1, they may consider different lifestyles, professions or other personal decisions that could maintain or improve their health. Their doctor may also be able to give them better medical advice.
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What are some recommended behavioral/lifestyle changes for Alpha-1 patients?

  • Smoking cessation
  • Avoiding environmental (indoor and outdoor) pollution
  • Seek the healthiest possible work environment
  • Avoid certain household chemical respiratory irritants – chlorine, ammonia
  • Develop an exercise program
  • Low, infrequent or no alcohol consumption
  • Development of a nutrition program
  • Reduce stressors
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How do I get my alpha-1 test results? Why can’t the lab give my results to me directly?

No test results can be provided over the phone by our laboratory personnel. CLIA requires the test results to be released only to the doctor who ordered your alpha-1 antitrypsin test [(42 C.F.R. & 493.1291 (f)] . If you participated in the DNA & Tissue Bank Research Study that included alpha-1 testing, then your test results will be sent to the address that you provided on your questionnaire (testing takes between 2-4 weeks to complete).

As a Health Insurance Portability and Accountability Act (HIPAA) compliant lab, we cannot disclose lab results to the patient but only to the ordering health care provider. It is our duty and due diligence to protect patient’s health information and assure that their health information is only released in appropriate circumstances and to solely authorized (designated health care providers) individuals.
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Who can I speak to about my alpha-1 test results that I received?

On every Alpha-1 lab test result, there is a phone number provided for the person you should contact for more test result information.
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Why doesn’t the lab confirm MS?

MS individuals have one normal allele and one S allele. They have a nearly normal, and occasionally normal, levels of AAT. They do not appear to be at an increased risk for lung or liver disease.
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How can I be tested for alpha-1 antitrypsin deficiency confidentially (where only I receive the results)?

Click here for more information about the ACT Trial.
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How can I get a clinic appointment in the Alpha-1 Specialty Clinic at UF?

For more information, go to the alpha-1 specialty clinic link on this website.
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I have recently been diagnosed with alpha-1 antitrypsin deficiency, what should I do?

Contact the Alpha-1 Foundation and your local physician who diagnosed you.
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I want to participate in alpha-1 research, where can I get more information?

For more information go the clinical trials page on this website.
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I want copies of my medical records, who do I call?

If you want copies of test results and clinic notes that were ordered at Shands Hospital, please call Shands Hospital Medical Records at 352-265-0131. If the records you are requesting were ordered or performed at other hospitals or provided by non-Shands doctors, please call the hospital or doctor who provided the service.
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I am going on vacation, how do I get my alpha-1 infusions while I am away?

About 2 months before your vacation, you should discuss your plans with your doctor who prescribes your alpha-1 replacement therapy and with your Alpha-Net coordinator, to decide if changes in your treatment plan are needed.
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