3. What is Alpha-1 Antitrypsin
Deficiency?
It is a genetic condition, passed from the
parents to the children.
People with Alpha-1 have received 2 abnormal
Alpha-1 Antitrypsin genes, 1 from their
mother and 1 from their father.
It can result in serious lung disease in adults.
It can result in liver disease at any age.
5. The Abnormal Alpha-1 Genes
There are many types of abnormal Alpha-1 genes.
The most common abnormal genes are called S
and Z.
Most people with Alpha-1 usually have two Z
genes.
Another deficient combination is SZ although
people with this gene combination are less likely
to have lung or liver problems than those with
two Z genes.
8. What happens in Alpha-1 Lung
Disease?
Alpha-1 Antitrypsin is a protein that is made
mainly in the liver.
The Alpha-1 Antitrypsin isn’t made properly and
gets trapped in the liver, which leads to liver
disease.
This leads to a lack of Alpha-1 in the blood, which
leads to lung disease
The main function of Alpha-1 is to protect the
lungs from inflammation caused by irritants and
infection.
9. What Happens in Alpha-1 Lung
Disease?
WBCs in the lung make an enzyme called
neutrophil elastase that destroys invading germs
and digests damaged or aging cells. In most
people, the Alpha-1 protein neutralizes the
enzyme after a short time.
In Alphas there isn’t enough of the Alpha-1
protein in the lungs, so the enzyme keeps
working, attacking and destroying normal lung
tissue and lung disease develops.
Alphas who smoke are at a much greater risk of
COPD than most people.
10. What Happens in Alpha-1 Lung
Disease?
Alphas often develop COPD in their 30s or 40s,
while people who don’t have Alpha-1 usually
don’t develop COPD symptoms until they are
in their 60s or 70s.
Alphas often develop COPD primarily in the
lower part of their lungs, whereas most non-
Alphas, especially smokers, show the worst
COPD damage in the top part of their lungs.
12. What Happens in Alpha-1 Lung
Disease?
Alpha-1 lung problems don’t usually occur in
children, but it is very important for children
with Alpha-1 to avoid all exposure to cigarette
smoke or heavy air pollution to protect their
lungs.
Sometimes children with Alpha-1 can have
severe asthma
14. The Most Common Signs and
Symptoms of Alpha-1 Lung Disease
Shortness of Breath
Wheezing
Chronic Bronchitis
Recurring Chest Colds
Less Exercise Tolerance
Asthma that can’t be completely reversed with
aggressive medical treatment
Year round allergies
Bronchiectasis
16. Alpha-1 Facts
Alpha-1 has been diagnosed in almost all
ethnic groups.
About 1/2500 Americans have Alpha-1.
Alphas may remain healthy throughout their
lives, but early diagnosis and avoiding risk
factors can help prevent Alpha-1 from causing
disease.
About 19,000,000 people in the U.S. are
Alpha-1 carriers.
17. Alpha-1 Facts
About 100,000 people in the U.S. have Alpha-1
Many Alphas with ZZ or SZ genes are healthy
Alpha-1 is the most common genetic risk factor for
emphysema.
Up to 3% of all people diagnosed with COPD may have
undiagnosed Alpha-1.
Alpha-1 can also lead to liver disease. The most serious
liver diseases are cirrhosis and liver CA.
There is a wide variation in how sick people get from
Alpha-1. Some patients have severe disease, while
some have little to none.
19. Diagnosing Alpha-1
Alpha-1 can only be diagnosed by a blood test.
The World Health Organization, American
Thoracic Society, and COPD foundation
recommend that everyone with COPD be
tested for Alpha-1.
Alpha-1 is often first diagnosed as asthma or
smoking related COPD.
23. Treatment for Alpha-1 Lung Disease
There is no cure for Alpha-1
Alphas with lung diseases such as asthma or
COPD can be helped by the same drugs that
are used by non-Alphas for these conditions.
These include bronchodilators and
corticosteroids
Infections are usually treated aggressively
with antibiotics
25. Augmentation Therapy
Weekly IV infusions of the Alpha-1 protein from
purified healthy plasma donors to increase the
level of the Alpha-1 protein in the blood and
lungs to slow or stop the progression of Alpha-1
lung disease.
There are currently 4 medications available for
use in augmentation therapy: Prolastin-C, Aralast
NP, Zemaira, and Glassia.
Has been shown to increase blood and lung levels
of Alpha-1 and reduce the rate of progression of
Alpha-1 lung disease and improved survival.
26. Augmentation Therapy
Cannot restore lost function and is not a cure,
but is currently standard therapy for Alphas
with COPD.
Augmentation therapy is also effective for the
Alpha-1 related skin disease Necrotizing
Panniculitis.
Augmentation therapy does not work for
Alpha-1 liver disease.
29. Safety of Augmentation Therapy
Augmentation therapy is prepared from
pooled human blood plasma that has been
screened for hepatitis A, B, C and tested for
HIV as well as other infectious viruses.
Side effects: headaches, muscle and joint pain,
and temporary flu- like symptoms. Alphas with
edema or heart failure may have worsening of
their shortness of breath.
31. Children and Alpha-1 Liver Disease
1/20 babies born with Alpha-1 will have liver
disease, sometimes sever, in the first year of life.
1/14 will have blood tests showing that the liver
is being injured, but the infants look and feel fine.
In most children with abnormal blood tests, the
liver disease improves by itself by the time these
children reach their teens and they remain
healthy.
32. Children and Alpha-1 Liver Disease
Alphas have a 30-40% chance of developing
liver problems during their lifetime.
Avoiding alcohol, maintaining a healthy
weight, getting vaccinated against infections
that damage the liver, and eating a healthy
diet are important.
35. Treatment for Alpha-1 Liver Disease
When treating Alpha-1 liver disease, the focus
is on treating the symptoms and keeping the
patient as healthy as they can be and
preventing health problems.
Treatments are available for intestinal
bleeding, fluid in the abdomen, nutrition and
other problems from scarring of the liver.
37. The Liver in Alpha-1
Alpha-1 can cause liver problems at any age.
Large amounts of the Alpha-1 Antitrypsin protein
are made in the liver; nearly 85% of the protein
get stuck in the liver.
The liver gradually gets damaged and scarred
There is no way to prevent the abnormal AAT
from getting stuck in the liver.
The lack of AAT in the blood allows the lungs to
get damaged by smoke and air pollution and can
show up as lung disease with Alpha-1.
39. The Most Common Signs and
Symptoms of Alpha-1 Liver Disease
Unexplained liver disease or elevated liver
enzymes
Eyes and skin turning yellow (jaundice)
Swelling of the abdomen or legs
Vomiting blood (enlarged veins in the
esophagus or stomach)
In babies: jaundice, swelling of the abdomen,
and poor growth, diarrhea
40. The Most Common Signs and
Symptoms of Alpha-1 Liver Disease
Feeling weak and tired
Most Alphas have no symptoms of liver
disease
42. Testing for Alpha-1
The Alpha-1 Foundation encourages testing
for Alpha-1 for those who are at a high risk for
the genetic disorder.
It is recommended that anyone diagnosed
with the following diseases be tested for
Alpha-1: COPD, asthma that is incompletely
irreversible after aggressive treatment,
chronic liver disease, unexplained liver disease
in infants and children.
43. Testing for Alpha-1
Anyone can ask their doctor to test them for
Alpha-1, or choose to be tested confidentially
through the Foundation’s Alpha-1 coded
testing study.
44. Resources
The Alpha-1 Foundation: www.alpha1.org
The National Human Genome Research
Institute: www.genome.gov
Boston University: www.bu.edu
Cleveland Clinic:
www.clevelandclinicmeded.com
Editor's Notes
If the mother and the father are both carriers of the A1 gene, there is a 25% chance of them having a child who doesn’t have the disease and isn’t a carrier.
There is a 50% chance of them having a child who is a carrier
There is a 25% chance of them having a child who has the A-1 disease
These stats are per birth for the same couple
So if you know someone who is showing symptoms of COPD in their 20s, 30s, or 40s you know that they probably need to be tested for A1
So where the is in the lungs is also a big indication that they need to be tested for A1.
Most of these are also symptoms of COPD, or any other chronic, severe lung disease
This picture just goes over some of the things that can be caused by A1, a lot of them we won’t be going over here. I just thought it was interesting information.
They actually do make a medication that causes extreme sexiness as a side effect. This is a picture of me after I took it.
They actually do make a medication that causes extreme sexiness as a side effect. This is a picture of me after I took it.
It worked so well, I gave some to my husband.