SlideShare a Scribd company logo
Alpha-1 Antitrypsin Deficiency
By: Sandra Tindle, RRT, CardioPulmonary Rehabilitation
Coordinator
What is Alpha-1 Antitrypsin
Deficiency?
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.
The Abnormal Alpha-1 Genes
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.
The Abnormal Alpha-1 Genes
What Happens in Alpha-1 Lung
Disease?
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.
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.
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.
What Happens in Alpha-1 Lung
Disease?
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
The Most Common Signs and
Symptoms of Alpha-1 Lung Disease
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
Alpha-1 Facts
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.
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.
Diagnosing Alpha-1
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.
Treatment for Alpha-1 Lung Disease
Treatment for Alpha-1 Lung Disease
Treatment for Alpha-1 Lung Disease
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
Augmentation Therapy
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.
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.
Augmentation Therapy
Safety of Augmentation Therapy
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.
Children and Alpha-1 Liver Disease
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.
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.
Children and Alpha-1
Treatment for Alpha-1 Liver Disease
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.
The Liver in Alpha-1
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.
The Most Common Signs and
Symptoms of Alpha-1 Liver Disease
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
The Most Common Signs and
Symptoms of Alpha-1 Liver Disease
Feeling weak and tired
Most Alphas have no symptoms of liver
disease
Testing for Alpha-1
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.
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.
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
Alpha 1 antitrypsin deficiency
Alpha 1 antitrypsin deficiency

More Related Content

What's hot

Hemochromatosis liver
Hemochromatosis liverHemochromatosis liver
Hemochromatosis liver
Shankar Zanwar
 
Porphyrias
Porphyrias Porphyrias
ALCOHOLIC LIVER DISEASE
ALCOHOLIC LIVER DISEASEALCOHOLIC LIVER DISEASE
ALCOHOLIC LIVER DISEASERakesh Kumar
 
Goodpasture syndrome
Goodpasture syndromeGoodpasture syndrome
Goodpasture syndrome
Deepak Chinagi
 
Hemochromatosis
HemochromatosisHemochromatosis
Hemochromatosis
akifab93
 
ADA
ADAADA
Ataxia telangiecsta Anatomy Project
Ataxia telangiecsta Anatomy Project Ataxia telangiecsta Anatomy Project
Ataxia telangiecsta Anatomy Project kellygaff
 
Alport syndrome
Alport syndromeAlport syndrome
Alport syndrome
MR. JAGDISH SAMBAD
 
Wilson disease
Wilson disease  Wilson disease
Wilson disease
Dr. Saad Saleh Al Ani
 
Porphyria
PorphyriaPorphyria
Porphyria
Caroline Karunya
 
Idiopathic pulmonary fibrosis copy
Idiopathic pulmonary fibrosis   copyIdiopathic pulmonary fibrosis   copy
Idiopathic pulmonary fibrosis copyAdetunji Adesegun
 
Aplastic anemia
Aplastic anemiaAplastic anemia
Aplastic anemia
ajayyadav753
 
Marfan Syndrome
Marfan SyndromeMarfan Syndrome
Marfan Syndrome
Haider Mohammed
 
hereditary hemochromatosis
hereditary hemochromatosishereditary hemochromatosis
hereditary hemochromatosis
ssn zhd
 
Interstitial Lung Disease
Interstitial Lung DiseaseInterstitial Lung Disease
Interstitial Lung Disease
Kamal Bharathi
 
Aplastic Anemias & Bone Marrow Transplant I by Dr. Sookun Rajeev Kumar
Aplastic Anemias & Bone Marrow Transplant I by Dr. Sookun Rajeev KumarAplastic Anemias & Bone Marrow Transplant I by Dr. Sookun Rajeev Kumar
Aplastic Anemias & Bone Marrow Transplant I by Dr. Sookun Rajeev Kumar
Dr. Sookun Rajeev Kumar
 
Alport
AlportAlport
Thrombotic Thrombocytopenic Purpura.pptx
Thrombotic Thrombocytopenic Purpura.pptxThrombotic Thrombocytopenic Purpura.pptx
Thrombotic Thrombocytopenic Purpura.pptx
Marwa Khalifa
 
Iron metabolism
Iron metabolismIron metabolism
Iron metabolism
Prof Viyatprajna Acharya
 

What's hot (20)

Hemochromatosis liver
Hemochromatosis liverHemochromatosis liver
Hemochromatosis liver
 
Porphyrias
Porphyrias Porphyrias
Porphyrias
 
ALCOHOLIC LIVER DISEASE
ALCOHOLIC LIVER DISEASEALCOHOLIC LIVER DISEASE
ALCOHOLIC LIVER DISEASE
 
Goodpasture syndrome
Goodpasture syndromeGoodpasture syndrome
Goodpasture syndrome
 
Hemochromatosis
HemochromatosisHemochromatosis
Hemochromatosis
 
ADA
ADAADA
ADA
 
Ataxia telangiecsta Anatomy Project
Ataxia telangiecsta Anatomy Project Ataxia telangiecsta Anatomy Project
Ataxia telangiecsta Anatomy Project
 
Alport syndrome
Alport syndromeAlport syndrome
Alport syndrome
 
Wilson disease
Wilson disease  Wilson disease
Wilson disease
 
Porphyria
PorphyriaPorphyria
Porphyria
 
Idiopathic pulmonary fibrosis copy
Idiopathic pulmonary fibrosis   copyIdiopathic pulmonary fibrosis   copy
Idiopathic pulmonary fibrosis copy
 
Aplastic anemia
Aplastic anemiaAplastic anemia
Aplastic anemia
 
Marfan Syndrome
Marfan SyndromeMarfan Syndrome
Marfan Syndrome
 
hereditary hemochromatosis
hereditary hemochromatosishereditary hemochromatosis
hereditary hemochromatosis
 
Interstitial Lung Disease
Interstitial Lung DiseaseInterstitial Lung Disease
Interstitial Lung Disease
 
Aplastic Anemias & Bone Marrow Transplant I by Dr. Sookun Rajeev Kumar
Aplastic Anemias & Bone Marrow Transplant I by Dr. Sookun Rajeev KumarAplastic Anemias & Bone Marrow Transplant I by Dr. Sookun Rajeev Kumar
Aplastic Anemias & Bone Marrow Transplant I by Dr. Sookun Rajeev Kumar
 
Alport
AlportAlport
Alport
 
G6PD Deficiency Anaemai
G6PD Deficiency AnaemaiG6PD Deficiency Anaemai
G6PD Deficiency Anaemai
 
Thrombotic Thrombocytopenic Purpura.pptx
Thrombotic Thrombocytopenic Purpura.pptxThrombotic Thrombocytopenic Purpura.pptx
Thrombotic Thrombocytopenic Purpura.pptx
 
Iron metabolism
Iron metabolismIron metabolism
Iron metabolism
 

Similar to Alpha 1 antitrypsin deficiency

Food Allergies
Food AllergiesFood Allergies
Food Allergies
Apollo Hospitals
 
Shivadharan (app)
Shivadharan (app)Shivadharan (app)
Shivadharan (app)
shivadharan G T
 
Pompes disease
Pompes diseasePompes disease
Pompes disease
Asma Afreen
 
5 Hepatitis.pptx
5 Hepatitis.pptx5 Hepatitis.pptx
5 Hepatitis.pptx
Salah Nazar
 
Diabetes.pdf
Diabetes.pdfDiabetes.pdf
Diabetes.pdf
AyushRana486882
 
Approach to pediatric Acute liver failure
Approach to pediatric Acute liver failureApproach to pediatric Acute liver failure
Approach to pediatric Acute liver failure
SiddannagoudSalotagi
 
liver diseases in pregnancy.ppt
liver diseases in pregnancy.pptliver diseases in pregnancy.ppt
liver diseases in pregnancy.ppt
raishemali
 
Drug induced liver injury Dr Suresh Gorka
Drug induced liver injury Dr Suresh GorkaDrug induced liver injury Dr Suresh Gorka
Drug induced liver injury Dr Suresh Gorka
Suresh Gorka
 
LFT.pptx
LFT.pptxLFT.pptx
LFT.pptx
RAJNKIT
 
HIGH AND LOW BLOOD TEST RESULTS: What Do They Mean?
HIGH AND LOW  BLOOD TEST RESULTS:  What Do They Mean?HIGH AND LOW  BLOOD TEST RESULTS:  What Do They Mean?
HIGH AND LOW BLOOD TEST RESULTS: What Do They Mean?
Nelson Vergel
 
Heart Failure (HF)
Heart Failure (HF)Heart Failure (HF)
Heart Failure (HF)
Divya Watson
 
2-Approach-to-Elevated-LFT.ppt
2-Approach-to-Elevated-LFT.ppt2-Approach-to-Elevated-LFT.ppt
2-Approach-to-Elevated-LFT.ppt
ssuserfc13e9
 
Celiac disease
Celiac diseaseCeliac disease
Celiac disease
Ritik68
 
Liver function tests final
Liver function tests finalLiver function tests final
Liver function tests final
Prabhakaranpd Payam
 
GIS-_Hepatotoxicity.pdf
GIS-_Hepatotoxicity.pdfGIS-_Hepatotoxicity.pdf
GIS-_Hepatotoxicity.pdf
SanjayaManiDixit
 
Lupus and the Lungs by Dr. Gilda Diaz-Fuentes
Lupus and the Lungs by Dr. Gilda Diaz-FuentesLupus and the Lungs by Dr. Gilda Diaz-Fuentes
Lupus and the Lungs by Dr. Gilda Diaz-FuentesLupusNY
 
Acute liver failure
Acute liver failureAcute liver failure
Acute liver failure
Saqib Pervez
 
2007-03 Louisville Autism Lecture
2007-03 Louisville Autism Lecture2007-03 Louisville Autism Lecture
2007-03 Louisville Autism Lecturedrdavid999
 
2008-03 Louisville Autism Lecture
2008-03 Louisville Autism Lecture2008-03 Louisville Autism Lecture
2008-03 Louisville Autism Lecturedrdavid999
 

Similar to Alpha 1 antitrypsin deficiency (20)

Food Allergies
Food AllergiesFood Allergies
Food Allergies
 
Shivadharan (app)
Shivadharan (app)Shivadharan (app)
Shivadharan (app)
 
Pompes disease
Pompes diseasePompes disease
Pompes disease
 
5 Hepatitis.pptx
5 Hepatitis.pptx5 Hepatitis.pptx
5 Hepatitis.pptx
 
Diabetes.pdf
Diabetes.pdfDiabetes.pdf
Diabetes.pdf
 
Approach to pediatric Acute liver failure
Approach to pediatric Acute liver failureApproach to pediatric Acute liver failure
Approach to pediatric Acute liver failure
 
liver diseases in pregnancy.ppt
liver diseases in pregnancy.pptliver diseases in pregnancy.ppt
liver diseases in pregnancy.ppt
 
Drug induced liver injury Dr Suresh Gorka
Drug induced liver injury Dr Suresh GorkaDrug induced liver injury Dr Suresh Gorka
Drug induced liver injury Dr Suresh Gorka
 
LFT.pptx
LFT.pptxLFT.pptx
LFT.pptx
 
HIGH AND LOW BLOOD TEST RESULTS: What Do They Mean?
HIGH AND LOW  BLOOD TEST RESULTS:  What Do They Mean?HIGH AND LOW  BLOOD TEST RESULTS:  What Do They Mean?
HIGH AND LOW BLOOD TEST RESULTS: What Do They Mean?
 
Heart Failure (HF)
Heart Failure (HF)Heart Failure (HF)
Heart Failure (HF)
 
Tyrosinemia2
Tyrosinemia2Tyrosinemia2
Tyrosinemia2
 
2-Approach-to-Elevated-LFT.ppt
2-Approach-to-Elevated-LFT.ppt2-Approach-to-Elevated-LFT.ppt
2-Approach-to-Elevated-LFT.ppt
 
Celiac disease
Celiac diseaseCeliac disease
Celiac disease
 
Liver function tests final
Liver function tests finalLiver function tests final
Liver function tests final
 
GIS-_Hepatotoxicity.pdf
GIS-_Hepatotoxicity.pdfGIS-_Hepatotoxicity.pdf
GIS-_Hepatotoxicity.pdf
 
Lupus and the Lungs by Dr. Gilda Diaz-Fuentes
Lupus and the Lungs by Dr. Gilda Diaz-FuentesLupus and the Lungs by Dr. Gilda Diaz-Fuentes
Lupus and the Lungs by Dr. Gilda Diaz-Fuentes
 
Acute liver failure
Acute liver failureAcute liver failure
Acute liver failure
 
2007-03 Louisville Autism Lecture
2007-03 Louisville Autism Lecture2007-03 Louisville Autism Lecture
2007-03 Louisville Autism Lecture
 
2008-03 Louisville Autism Lecture
2008-03 Louisville Autism Lecture2008-03 Louisville Autism Lecture
2008-03 Louisville Autism Lecture
 

Recently uploaded

Burning Issue Presentation By Kenmaryon.pdf
Burning Issue Presentation By Kenmaryon.pdfBurning Issue Presentation By Kenmaryon.pdf
Burning Issue Presentation By Kenmaryon.pdf
kkirkland2
 
Tom tresser burning issue.pptx My Burning issue
Tom tresser burning issue.pptx My Burning issueTom tresser burning issue.pptx My Burning issue
Tom tresser burning issue.pptx My Burning issue
amekonnen
 
María Carolina Martínez - eCommerce Day Colombia 2024
María Carolina Martínez - eCommerce Day Colombia 2024María Carolina Martínez - eCommerce Day Colombia 2024
María Carolina Martínez - eCommerce Day Colombia 2024
eCommerce Institute
 
Announcement of 18th IEEE International Conference on Software Testing, Verif...
Announcement of 18th IEEE International Conference on Software Testing, Verif...Announcement of 18th IEEE International Conference on Software Testing, Verif...
Announcement of 18th IEEE International Conference on Software Testing, Verif...
Sebastiano Panichella
 
Doctoral Symposium at the 17th IEEE International Conference on Software Test...
Doctoral Symposium at the 17th IEEE International Conference on Software Test...Doctoral Symposium at the 17th IEEE International Conference on Software Test...
Doctoral Symposium at the 17th IEEE International Conference on Software Test...
Sebastiano Panichella
 
Getting started with Amazon Bedrock Studio and Control Tower
Getting started with Amazon Bedrock Studio and Control TowerGetting started with Amazon Bedrock Studio and Control Tower
Getting started with Amazon Bedrock Studio and Control Tower
Vladimir Samoylov
 
Acorn Recovery: Restore IT infra within minutes
Acorn Recovery: Restore IT infra within minutesAcorn Recovery: Restore IT infra within minutes
Acorn Recovery: Restore IT infra within minutes
IP ServerOne
 
Presentatie 8. Joost van der Linde & Daniel Anderton - Eliq 28 mei 2024
Presentatie 8. Joost van der Linde & Daniel Anderton - Eliq 28 mei 2024Presentatie 8. Joost van der Linde & Daniel Anderton - Eliq 28 mei 2024
Presentatie 8. Joost van der Linde & Daniel Anderton - Eliq 28 mei 2024
Dutch Power
 
somanykidsbutsofewfathers-140705000023-phpapp02.pptx
somanykidsbutsofewfathers-140705000023-phpapp02.pptxsomanykidsbutsofewfathers-140705000023-phpapp02.pptx
somanykidsbutsofewfathers-140705000023-phpapp02.pptx
Howard Spence
 
Presentatie 4. Jochen Cremer - TU Delft 28 mei 2024
Presentatie 4. Jochen Cremer - TU Delft 28 mei 2024Presentatie 4. Jochen Cremer - TU Delft 28 mei 2024
Presentatie 4. Jochen Cremer - TU Delft 28 mei 2024
Dutch Power
 
Supercharge your AI - SSP Industry Breakout Session 2024-v2_1.pdf
Supercharge your AI - SSP Industry Breakout Session 2024-v2_1.pdfSupercharge your AI - SSP Industry Breakout Session 2024-v2_1.pdf
Supercharge your AI - SSP Industry Breakout Session 2024-v2_1.pdf
Access Innovations, Inc.
 
AWANG ANIQKMALBIN AWANG TAJUDIN B22080004 ASSIGNMENT 2 MPU3193 PHILOSOPHY AND...
AWANG ANIQKMALBIN AWANG TAJUDIN B22080004 ASSIGNMENT 2 MPU3193 PHILOSOPHY AND...AWANG ANIQKMALBIN AWANG TAJUDIN B22080004 ASSIGNMENT 2 MPU3193 PHILOSOPHY AND...
AWANG ANIQKMALBIN AWANG TAJUDIN B22080004 ASSIGNMENT 2 MPU3193 PHILOSOPHY AND...
AwangAniqkmals
 
International Workshop on Artificial Intelligence in Software Testing
International Workshop on Artificial Intelligence in Software TestingInternational Workshop on Artificial Intelligence in Software Testing
International Workshop on Artificial Intelligence in Software Testing
Sebastiano Panichella
 
Competition and Regulation in Professional Services – KLEINER – June 2024 OEC...
Competition and Regulation in Professional Services – KLEINER – June 2024 OEC...Competition and Regulation in Professional Services – KLEINER – June 2024 OEC...
Competition and Regulation in Professional Services – KLEINER – June 2024 OEC...
OECD Directorate for Financial and Enterprise Affairs
 
Bitcoin Lightning wallet and tic-tac-toe game XOXO
Bitcoin Lightning wallet and tic-tac-toe game XOXOBitcoin Lightning wallet and tic-tac-toe game XOXO
Bitcoin Lightning wallet and tic-tac-toe game XOXO
Matjaž Lipuš
 
Gregory Harris' Civics Presentation.pptx
Gregory Harris' Civics Presentation.pptxGregory Harris' Civics Presentation.pptx
Gregory Harris' Civics Presentation.pptx
gharris9
 
Media as a Mind Controlling Strategy In Old and Modern Era
Media as a Mind Controlling Strategy In Old and Modern EraMedia as a Mind Controlling Strategy In Old and Modern Era
Media as a Mind Controlling Strategy In Old and Modern Era
faizulhassanfaiz1670
 
0x01 - Newton's Third Law: Static vs. Dynamic Abusers
0x01 - Newton's Third Law:  Static vs. Dynamic Abusers0x01 - Newton's Third Law:  Static vs. Dynamic Abusers
0x01 - Newton's Third Law: Static vs. Dynamic Abusers
OWASP Beja
 
Bonzo subscription_hjjjjjjjj5hhhhhhh_2024.pdf
Bonzo subscription_hjjjjjjjj5hhhhhhh_2024.pdfBonzo subscription_hjjjjjjjj5hhhhhhh_2024.pdf
Bonzo subscription_hjjjjjjjj5hhhhhhh_2024.pdf
khadija278284
 
Obesity causes and management and associated medical conditions
Obesity causes and management and associated medical conditionsObesity causes and management and associated medical conditions
Obesity causes and management and associated medical conditions
Faculty of Medicine And Health Sciences
 

Recently uploaded (20)

Burning Issue Presentation By Kenmaryon.pdf
Burning Issue Presentation By Kenmaryon.pdfBurning Issue Presentation By Kenmaryon.pdf
Burning Issue Presentation By Kenmaryon.pdf
 
Tom tresser burning issue.pptx My Burning issue
Tom tresser burning issue.pptx My Burning issueTom tresser burning issue.pptx My Burning issue
Tom tresser burning issue.pptx My Burning issue
 
María Carolina Martínez - eCommerce Day Colombia 2024
María Carolina Martínez - eCommerce Day Colombia 2024María Carolina Martínez - eCommerce Day Colombia 2024
María Carolina Martínez - eCommerce Day Colombia 2024
 
Announcement of 18th IEEE International Conference on Software Testing, Verif...
Announcement of 18th IEEE International Conference on Software Testing, Verif...Announcement of 18th IEEE International Conference on Software Testing, Verif...
Announcement of 18th IEEE International Conference on Software Testing, Verif...
 
Doctoral Symposium at the 17th IEEE International Conference on Software Test...
Doctoral Symposium at the 17th IEEE International Conference on Software Test...Doctoral Symposium at the 17th IEEE International Conference on Software Test...
Doctoral Symposium at the 17th IEEE International Conference on Software Test...
 
Getting started with Amazon Bedrock Studio and Control Tower
Getting started with Amazon Bedrock Studio and Control TowerGetting started with Amazon Bedrock Studio and Control Tower
Getting started with Amazon Bedrock Studio and Control Tower
 
Acorn Recovery: Restore IT infra within minutes
Acorn Recovery: Restore IT infra within minutesAcorn Recovery: Restore IT infra within minutes
Acorn Recovery: Restore IT infra within minutes
 
Presentatie 8. Joost van der Linde & Daniel Anderton - Eliq 28 mei 2024
Presentatie 8. Joost van der Linde & Daniel Anderton - Eliq 28 mei 2024Presentatie 8. Joost van der Linde & Daniel Anderton - Eliq 28 mei 2024
Presentatie 8. Joost van der Linde & Daniel Anderton - Eliq 28 mei 2024
 
somanykidsbutsofewfathers-140705000023-phpapp02.pptx
somanykidsbutsofewfathers-140705000023-phpapp02.pptxsomanykidsbutsofewfathers-140705000023-phpapp02.pptx
somanykidsbutsofewfathers-140705000023-phpapp02.pptx
 
Presentatie 4. Jochen Cremer - TU Delft 28 mei 2024
Presentatie 4. Jochen Cremer - TU Delft 28 mei 2024Presentatie 4. Jochen Cremer - TU Delft 28 mei 2024
Presentatie 4. Jochen Cremer - TU Delft 28 mei 2024
 
Supercharge your AI - SSP Industry Breakout Session 2024-v2_1.pdf
Supercharge your AI - SSP Industry Breakout Session 2024-v2_1.pdfSupercharge your AI - SSP Industry Breakout Session 2024-v2_1.pdf
Supercharge your AI - SSP Industry Breakout Session 2024-v2_1.pdf
 
AWANG ANIQKMALBIN AWANG TAJUDIN B22080004 ASSIGNMENT 2 MPU3193 PHILOSOPHY AND...
AWANG ANIQKMALBIN AWANG TAJUDIN B22080004 ASSIGNMENT 2 MPU3193 PHILOSOPHY AND...AWANG ANIQKMALBIN AWANG TAJUDIN B22080004 ASSIGNMENT 2 MPU3193 PHILOSOPHY AND...
AWANG ANIQKMALBIN AWANG TAJUDIN B22080004 ASSIGNMENT 2 MPU3193 PHILOSOPHY AND...
 
International Workshop on Artificial Intelligence in Software Testing
International Workshop on Artificial Intelligence in Software TestingInternational Workshop on Artificial Intelligence in Software Testing
International Workshop on Artificial Intelligence in Software Testing
 
Competition and Regulation in Professional Services – KLEINER – June 2024 OEC...
Competition and Regulation in Professional Services – KLEINER – June 2024 OEC...Competition and Regulation in Professional Services – KLEINER – June 2024 OEC...
Competition and Regulation in Professional Services – KLEINER – June 2024 OEC...
 
Bitcoin Lightning wallet and tic-tac-toe game XOXO
Bitcoin Lightning wallet and tic-tac-toe game XOXOBitcoin Lightning wallet and tic-tac-toe game XOXO
Bitcoin Lightning wallet and tic-tac-toe game XOXO
 
Gregory Harris' Civics Presentation.pptx
Gregory Harris' Civics Presentation.pptxGregory Harris' Civics Presentation.pptx
Gregory Harris' Civics Presentation.pptx
 
Media as a Mind Controlling Strategy In Old and Modern Era
Media as a Mind Controlling Strategy In Old and Modern EraMedia as a Mind Controlling Strategy In Old and Modern Era
Media as a Mind Controlling Strategy In Old and Modern Era
 
0x01 - Newton's Third Law: Static vs. Dynamic Abusers
0x01 - Newton's Third Law:  Static vs. Dynamic Abusers0x01 - Newton's Third Law:  Static vs. Dynamic Abusers
0x01 - Newton's Third Law: Static vs. Dynamic Abusers
 
Bonzo subscription_hjjjjjjjj5hhhhhhh_2024.pdf
Bonzo subscription_hjjjjjjjj5hhhhhhh_2024.pdfBonzo subscription_hjjjjjjjj5hhhhhhh_2024.pdf
Bonzo subscription_hjjjjjjjj5hhhhhhh_2024.pdf
 
Obesity causes and management and associated medical conditions
Obesity causes and management and associated medical conditionsObesity causes and management and associated medical conditions
Obesity causes and management and associated medical conditions
 

Alpha 1 antitrypsin deficiency

  • 1. Alpha-1 Antitrypsin Deficiency By: Sandra Tindle, RRT, CardioPulmonary Rehabilitation Coordinator
  • 2. What is Alpha-1 Antitrypsin Deficiency?
  • 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.
  • 7. What Happens in Alpha-1 Lung Disease?
  • 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.
  • 11. What Happens in Alpha-1 Lung Disease?
  • 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
  • 13. The Most Common Signs and Symptoms of Alpha-1 Lung Disease
  • 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.
  • 20. Treatment for Alpha-1 Lung Disease
  • 21. Treatment for Alpha-1 Lung Disease
  • 22. Treatment for Alpha-1 Lung Disease
  • 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.
  • 30. Children and Alpha-1 Liver Disease
  • 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.
  • 34. Treatment for Alpha-1 Liver Disease
  • 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.
  • 36. The Liver in Alpha-1
  • 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.
  • 38. The Most Common Signs and Symptoms of Alpha-1 Liver Disease
  • 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

  1. 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
  2. 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.
  3. Most of these are also symptoms of COPD, or any other chronic, severe lung disease
  4. 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.
  5. They actually do make a medication that causes extreme sexiness as a side effect. This is a picture of me after I took it.
  6. 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.
  7. Picture of necrotizing panniculitis with gangrene
  8. Picture of child with A1 with swollen belly
  9. Healthy liver Liver with cirrhosis