Alpha-1
Because Alpha-1 is genetic, Alpha-1 lung disease is commonly called
"genetic COPD."
How many genes are there?
For each trait a person inherits, there are usually two genes; one gene comes from each parent. People with Alpha-1 have received two abnormal alpha-1 antitrypsin genes. One of these abnormal genes came from their mother and one from their father.
What are the abnormal Alpha-1 genes?
There are many types of abnormal alpha-1 antitrypsin genes. The most common abnormal genes are called S and Z.
What does low levels of AAT in the blood lead to?
This leads to a build-up of abnormal AAT in the liver that can cause liver disease and a decrease of AAT in the blood that can lead to lung disease.
Normal white blood cells in the lung produce an enzyme called what?
neutrophil elastase
Alphas with lung diseases such as asthma, COPD or bronchiectasis can be helped by the same drugs that are used by
non-Alphas for these conditions.
People with Alpha-1 lung disease have two abnormal genes
one from each parent).
The goal is to increase the level of alpha-1 protein in the blood and lungs in order to
slow or stop the progression of Alpha-1 lung disease
In most people, the alpha-1 protein neutralizes what after a short time?
the enzyme neutrophil
Alphas often develop COPD primarily in what part of their lungs?
the lower part
most non-Alphas, especially smokers, show the worst COPD damage in what part of their lungs?
the top part
Besides the usual treatments for COPD in general,
there is a specific therapy available to Alphas with lung disease. -
What's one sign of a lung infection?
when the Alpha starts to cough up mucus or phlegm that is yellow or green in color.
In Alphas, there isn't enough alpha-1 protein in the lungs; the enzyme then keeps on
working, attacking and destroying normal lung tissue.
People who do not have Alpha-1, even longtime smokers, usually don't develop COPD symptoms until they are in their
60s or 70s.
Estimated amount of carriers?
An estimated 19 million people in the United States have one normal and one defective alpha-1 gene. People with one normal gene and one defective gene (for example MZ) are called "carriers". Carriers may pass the defective gene on to their children.
What is alpha-1?
Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic (inherited) condition - it is passed from parents to their children through their genes. Alpha-1 may result in serious lung disease in adults and/or liver disease at any age.
Like most medical conditions, panniculitis can have many underlying causes.
Alpha-1 Antitrypsin Deficiency (Alpha-1) is one of those causes
How is Alpha-1 typically diagnosed?
Alpha-1 can lead to lung destruction and is often first diagnosed as asthma or smoking-related Chronic Obstructive Pulmonary Disease (COPD).
Who gets Alpha -1 Lung or Liver disease?
Alpha-1 has been identified in nearly all populations and ethnic groups. It is estimated that about 1 in every 2,500 Americans have Alpha-1.
Alpha 1 COPD, Empheseyna facts
Alpha-1 is the most common known genetic risk factor for emphysema. Up to 3% of all people diagnosed with COPD may have undetected Alpha-1.
When do alpha's develop COPD?
Alphas often develop COPD while they are in their 30s or 40s
fact about alpha and smoking:
Alphas who smoke are at much greater risk of COPD than most people. Even Alphas who have never smoked may develop severe lung disease.
What's another deficient gene combination?
Another deficient gene combination is SZ, although people with this gene combination are less likely to get lung or liver problems than those with two Z genes.
Is augmentation therapy a cure?
Augmentation therapy cannot restore lost lung function and is not considered a cure.
What has augmentation therapy been shown to do?
Augmentation therapy has been shown to increase blood and lung levels of alpha-1 antitrypsin protein, reduce the rate of decline of lung function, and improve survival.
As this damage continues over years, lung disease such as
COPD can develop.
Alphas are lacking (have a "deficiency" of) the protective protein alpha-1-antitrypsin (AAT), which is made primarily in the
LIVER
Is augmentation therapy a treatment for alpha-1 liver disease?
NO
Augmentation therapy also appears to be an effective treatment for the Alpha-1 related skin disease
Necrotizing Panniculitis.
Can Alpha-1 be detected by a medical examination?
No.Alpha-1 cannot be diagnosed by symptoms or by a medical examination alone; you need to get a simple, reliable blood test to know for sure.
What are normal genes called?
Normal genes are called M. A person who does not have Alpha-1 will have two M genes (MM).
What is panniculitis?
Panniculitis is an inflammation of the panniculus,( the layer of fatty and fibrous tissue just beneath the outer layers of our skin.) This layer of the skin looks like a honeycomb, with globules of fat separated by walls, or septae.
What's identified in people who have Alpha-1?
People identified with Alpha-1 most commonly have two Z genes (ZZ). Current evidence suggests that there are at least 100,000 people with Alpha-1 (ZZ) in the United States.
What helps prevent Alpha-1?
People with Alpha-1 may remain healthy throughout their lives. Early diagnosis and avoiding risk factors, such as cigarette smoking, can help prevent Alpha-1 from causing disease.
What are symptoms or Alpha 1 related to lungs?
Shortness of breath Wheezing Chronic bronchitis, which is cough and sputum (phlegm) production that lasts for a long time Recurring chest colds Less exercise tolerance Asthma that can't be completely reversed with aggressive medical treatment Year-round allergies Bronchiectasis
Why does a low level of AAT in the blood occur?
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. It's the wrong shape and cannot release itself at a normal rate.
What's the main function of Alpha-1?
The main function of AAT is to protect the lungs from inflammation caused by infection and inhaled irritants such as tobacco smoke.
Is there a cure to Alpha-1?
The only cure is a liver trasnplant.
What are symptoms related to the liver?
Unexplained liver disease or elevated liver enzymes Eyes and skin turning yellow (jaundice) Swelling of the abdomen (ascites) or legs Vomiting blood (from enlarged veins in the esophagus or stomach)
Is augmentation therapy standard for alphas with COPD?
Yes
Can alpha-1 lead to liver disease?
Yes, Alpha-1 can also lead to liver disease. The most serious liver diseases are cirrhosis and liver cancer.
The most common abnormal genes are called
Z and S genes.
Augmentation therapy consists of intravenous infusions, usually weekly, of
alpha-1 antitrypsin protein purified from healthy plasma donors.
These include drugs to open up the lung passages (bronchodilators) and reduce the
chronic inflammation that is common in the lungs of Alphas (corticosteroids).
Since infections in the lung can bring millions of extra white blood cells into the lungs, many doctors who care for Alphas recommend that lung infections be treated
early and aggressively with antibiotics.
How does Alpha-1 occur?
hAlpha-1 occurs when there is a lack of a protein in the blood called alpha-1 antitrypsin, or AAT. AAT, the alpha-1 protein, is mainly produced by the liver.
UNESTANDING ALPHA1 VIDEO
https://vimeo.com/13400578
At what age do people start to notice their health change?
in their 30's-40's
What does the enzyme neutrophil elastase do?
it destroys invading germs and digests damaged or aging cells.
