What Is Alpha-1?

What is Alpha-1?

Alpha-1 antitrypsin (Alpha-1) is a protein that is made in your liver and protects your lungs from white blood cells (WBC). Think of Alpha-1 as your body’s natural, anti-inflammatory; it turns off WBC when they are no longer needed.

Anytime you have a bacterial infection, or breathe in toxic fumes (like tobacco smoke), your lung’s defense system starts making extra WBC to fight off the intruders. When this system is functioning properly, WBC are sent to eat & remove the bacteria or microscopic particles in fumes / tobacco smoke. When the intruders have been removed, Alpha-1 is sent to stop the process by turning-off WBC.

The problem with Alpha-1 is in the genetic instructions your genes (DNA) provide to your liver. The defective Alpha-1 protein is misshaped and can’t get out of your liver. Depending on the type of Alpha-1 you have, as little as 5% escapes from the liver to protect your lungs. The protein trapped inside your liver can build-up over time and can eventually lead to liver disease.

Your body’s immune system identifies the defective Alpha-1 that escape the liver as an intruder and signals an inflammatory response. So, the problem is two-fold. Not only do you have low levels of Alpha-1 to protect your lungs from WBC, but you also have more WBC in your lungs due to the inflammatory response. If there are too many WBC in your lungs, they begin eating healthy lung tissue, instead of bacteria and particulates.

How common is Alpha-1?
In the general U.S. population, Alpha-1 affects around 1 in 2,000 people. Mainly Caucasians, followed by Hispanics, African-Americans to a lesser extent and very rarely Asian-Americans.

In patients with symptomatic lung disease including Chronic Obstructed Pulmonary Disease (COPD), Chronic Bronchitis, Severe Asthma or Emphysema, Alpha-1 is much more common. 1 in 10 patients with lung disease will be a carrier (MZ or MS) and 1 in 50 will be severely deficient (SZ or ZZ).

Where did Alpha-1 come from?
Alpha-1 is often referred to as the Viking’s Disease because the “Z” version of the genetic mutation originated in the Viking countries of Scandinavia (Norway, Sweden & Denmark). If you follow the Viking’s path of pillage & plunder, you’ll find a lot of familiar cities. Between 793 and 1066 AD the Vikings controlled much of Northern & Western Europe including:

Ireland – Waterford, Cork & Dublin (founded by Vikings)
Scotland – The Highland Region including Orkney, Inverness & Aberdeen
England – Leicester, Nottingham, Derby & York (the Viking capital of England)
France – Normandy (derived from“Norse”-man or “North”-man)

While “Z” is the more severe version of Alpha-1, the “S” version is also prevalent in the U.S. and originated in the Iberian Peninsula (Spain & Portugal). The “S” and “Z” versions make up 98% of the Alpha-1 we see in the U.S.

It becomes very easy to see how Alpha-1 spread throughout the United States. A very large portion of our population emigrated from areas that were once under the control of Vikings.

Cigarette Smoke
Besides Alpha-1’s main job of “turning-off” WBC, it also works as a powerful anti-oxidant. Cigarette smoke contains oxidants (powerful, unstable chemicals) that break down the building blocks of our lung tissue causing lung disease and sometimes cancer. Oxidants also bind to Alpha-1, effectively destroying it. Once an oxidant binds to Alpha-1, it can no longer do its primary job of “turning-off” WBC. Even in people with normal functioning Alpha-1, there are enough oxidants in one cigarette to destroy almost all of the Alpha-1 in your lungs for up to 30 min after you’ve stopped smoking!!! If you remember, people with Alpha-1 stay in a heightened state of inflammation. That means they have more WBC in their lungs than most people do. So, if you smoke AND you have Alpha-1, even if you are only a carrier, it’s like, “Pouring gas on the fire!” Alphas that smoke have increased amounts of WBC, but the smoke has destroyed their body’s natural anti-inflammatory.

Versions of Alpha-1
There are currently over 200 known versions of Alpha-1 and around 35 of those are defective enough to result in a deficiency. The M version is normal. The S & Z make up 98% of the versions we see in the US. Z is a more severe form than S.

These are the 5 most common combinations of Alpha-1. As you read down the list, the risk factor for Lung &/or Liver Disease becomes more severe. Beginning with MS (No known risk of Lung / Liver Disease) to ZZ (the most severe form of Alpha-1).

  • MM 100% Normal
  • MS 80% of Normal Level No Known Risk
  • SS 60% of Normal Level Increased Risk of Lung Disease
  • MZ 60% of Normal Level Increased Risk of Lung / Liver Disease
  • SZ 40% of Normal Level Increased Risk of Lung / Liver Disease
    ZZ 5-15% of Normal Level Most Severe Risk of Lung / Liver Disease

What are the symptoms of Alpha-1 and when do they first appear?

It depends! With Lung Disease, symptoms may appear in the early 20’s or several decades later, depending on how often & how long they have been smoking (including Second-Hand Smoke) and how long they have been exposed to occupational pollutants.

With liver disease, symptoms can appear at birth, in the early 30’s or well into the eighties. About 1% of ZZ newborns require a liver transplant. Risk of liver disease is increased with alcohol induced cirrhosis, hepatitis or other diseases that weaken the liver.

Symptoms may never appear! About 20% to 30% of ZZ Alphas never develop lung disease. If you don’t smoke and you lead a fairly healthy lifestyle, you increase your chances of staying healthy.

How is alpha-1 antitrypsin deficiency diagnosed?

Alpha-1 antitrypsin deficiency (AATD) is diagnosed through testing of a blood sample, when a person is suspected of having AATD. For example, AATD may be suspected when a physical examination reveals a barrel-shaped chest, or, when listening to the chest with a stethoscope, wheezing, crackles or decreased breath sounds are heard.

Testing for AATD, using a blood sample from the individual, is simple, quick and highly accurate.. Three types of tests are usually done on the blood sample:

  • Alpha-1 genotyping, which examines a person’s genes and determines their genotype.
  • Alpha-1 antitrypsin PI type of phenotype test, which determines the type of AAT protein that a person has.
  • Alpha-1 antitrypsin level test, which determines the amount of AAT in a person’s blood.
  • Individuals who have symptoms that suggest AATD or who have a family history of AATD should consider being tested.

 

If you would like to have a Test Kit sent to you, please click here. This will direct you to the Alpha-1 Coded Testing (ACT) Study – a program run by the Medical University of South Carolina.  You will be asked to review and electronically the consent form and complete a short questionnaire. Once that has been completed, an Alpha-1 test kit will be mailed to you. Allow up to 6 weeks to receive your results.

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