Alpha-1 antitrypsin deficiency
Imagine – a rare disease that’s rarely diagnosed – because it mimics so many other diseases - The Balancing Act
image by: Emphysema Foundation For Our Right To Survive
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Alpha-1 can be confused with asthma
I'm one of those old-fashioned people that likes to read the newspaper in the morning before I go to work. Yes, an actual newspaper! You know, the paper that some people still get on their driveway every morning. (And then I have to shuffle out to get it in my big fuzzy bathrobe and hope that none of the neighbors see me....... )
This week I read an article about Alpha-1 Awareness month. I've never heard of it before, so I thought I would scan the article. I'm always interested in learning something new.....trying to keep the old brain cells nice and sharp you know!
The Alpha-1 Foundation's website says: "Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic (inherited)…
Resources
A Rare Disease That’s Rarely Diagnosed
Imagine: A rare disease that’s rarely diagnosed because it mimics so many other diseases. We’re talking about Alpha-1 antitrypsin deficiency or AAT, a hereditary condition that may cause lung disease and liver disease.
There is Nothing Like The Passion And Urgency of Parents Who Want to Protect Their Children
You may be surprised to know that Alpha-1 is more common than cystic fibrosis worldwide, but we have not identified many patients, due to lack of awareness and minimal testing.
Alpha-1 antitrypsin deficiency: a commonly overlooked cause of lung disease
The management of lung disease secondary to alpha-1 antitrypsin deficiency includes the usual approaches used in more typical COPD without alpha-1 deficiency, as well as therapy specific to this deficiency.
Breathing problem due to Alpha 1 Antitrypsin deficiency
I found some really good videos on YouTube.com about Alpha 1 Antitrypsin deficiency. This is about Alpha 1, but the first part also describes the sensation having asthma without Alpha 1. So to understand the nature of asthma you really need to see the first part of the video. Note! that asthma and Alpha 1 Antitrypsin deficiency is not the same even though the experience of the symptoms are in many ways much similar.
Current and Emerging Treatments for Alpha-1 Antitrypsin Deficiency
Alpha-1 antitrypsin deficiency, which was first described 53 years ago, is an autosomal codominant disorder resulting from defective biogenesis of the serum protein alpha-1 antitrypsin by the liver. Essentially, the protein is misfolded, causing it to accumulate in liver cells, and this accumulation produces proteotoxic effects in the liver.
John W. Walsh, Who Fought for Cure for Lung Disease, Dies at 68
Mr. Walsh and two other Alphas, as they describe themselves, Susan Stanley and Sandy Linsey, started the AlphaNet Foundation. He established the COPD Foundation when he realized that the more prevalent disease was also being underdiagnosed and that research into a cure was underfunded.
My story by Alpha One Antitrypsin Deficient sufferer
I was diagnosed with Alpha One Antitrypsin Deficiency (A1AD) at 45, a year before being diagnosed I got increasingly sick, I was always very slim but I dropped over 30lbs in weight and couldn't breathe on going up inclines or stairs and heavily polluted days...
Raising Awareness of Alpha-1
On average it will take 6.5 years for a patient to be diagnosed. During that time they will have seen, on average, 3-4 physicians before finally being diagnosed with alpha-1,” said Kellie Hotz, corporate communications for Baxter International, a company that produces one of the four pharmaceuticals cleared for treatment of alpha-1.
What Is Alpha-1 Antitrypsin Deficiency Disorder?
It's quite common—one of the most common genetic variants in the U. S. It can be diagnosed by checking blood at birth, but that has not been the usual practice here. It is usually diagnosed because one presents manifestations of the disease, most commonly emphysema and liver disease, or because one has a family member who is affected.
Alpha-1 can be confused with asthma
This week I read an article about Alpha-1 Awareness month. I've never heard of it before, so I thought I would scan the article. I'm always interested in learning something new.....trying to keep the old brain cells nice and sharp you know! .
Alpha One Foundation
In 2004 we began a national screening programme funded by the Department of Health and Children to reduce the under diagnosis and misdiagnosis of Alpha-1.
Alpha-1 Antitrypsin Deficiency
Providing information and facts about Alpha-1 Antitrypsin Deficiency for no cure has been found yet.
Alpha-1 Association of Australia
The AAA was established following recognition of the absence of a central body of information and contacts for those affected by and working with Alpha-1 Antitrypsin Deficiency (Alpha-1).
Alpha-1 Awareness
Alpha-1 Awareness UK is a charity formed to provide information and support to sufferers of alpha-1 antitrypsin deficiency. We maintain close links with experts and organisations associated with the condition, including European Alpha groups, pharmaceuticals and clinicians.
Alpha-1 Canada
Alpha-1 Antitrypsin Deficiency Canada Inc. (Alpha-1 Canada) is a national not-for-profit organization committed to providing information and support to people affected by Alpha-1 Antitrypsin Deficiency; informing the medical community about Alpha-1 Antitrypsin Deficiency; and to generate broad awareness about this genetic liver, lung and skin disease.
Alpha-1 Foundation
The Alpha-1 Foundation is committed to finding a cure for Alpha-1 Antitrypsin Deficiency and to improving the lives of people affected by Alpha-1 worldwide.
Alpha-1 Global
Our mission is to create a collaborative global network of Alpha-1 organisations and patients to increase awareness, detection, and access to care for Alphas around the world.
Alpha-1 UK Support Group
We are a friendly group, and between us we have a wealth of knowledge and experience to share. There is always someone to help with any worries or queries you might have.
Alpha1Village
Raising awareness one breath at a time.
AlphaNet
Alpha-1 Antitrypsin Deficiency (Alpha-1) causes severe lung and/or liver disease and it is a leading reason for lung transplantation in adults and liver transplantation in young children. AlphaNet, Inc. is focused on providing health management services to individuals affected by Alpha-1...
My journey with Alpha-1 Antitrypsin Deficiency
This page is to journal my journey with Alpha-1. The joys, pains, fears....everything I feel, think and experience...
Prolastin-C
PROLASTIN-C is a concentrated form of alpha1-antitrypsin (AAT) that is purified from human plasma—the fluid part of your blood.2 When given as prescribed, PROLASTIN-C raises the levels of AAT in your blood and lungs. Because PROLASTIN® "augments" or replaces missing AAT, it is referred to as "augmentation therapy" or "replacement therapy."
The Alpha-1 Project
The Alpha-1 Project (TAP) is a wholly-owned for profit subsidiary of the Alpha-1 Foundation singularly focused on providing critical funding and advice to speed the commercialization of therapies for the elimination of Chronic Obstructive Pulmonary Disease (COPD) and liver disease caused by Alpha-1 Antitrypsin Deficiency (Alpha-1).
Chest Foundation
The primary AAT deficiency risk factor is inheritance of the abnormal gene from one or both parents. Not every individual with AAT deficiency develops emphysema.
Lung Institute
Alpha-1 antitrypsin deficiency occurs by mutations in the gene SERPINA1. This gene is responsible for providing the instructions for making the protein alpha-1 antitrypsin (found in the liver), which protects the body from a powerful enzyme called neutrophil elastase. This enzyme is released from white blood cells to fight infection but can also attack normal tissues (in this case, the lungs) if it is not tightly controlled by alpha-1 antitrypsin. The mutations of the SERPINA1 gene cause a shortage of alpha-1 antitrypsin or an abnormal form of the protein that can’t control neutrophil elastase. With the neutrophil elastase out of control, it begins to destroy alveoli and cause lung disease.
Patient
Between 1 in every 3,000 to 5,000 people in the UK have A1AT deficiency. Around 1 in 30 people carry an A1AT faulty gene. This makes A1AT deficiency one of the most common inherited conditions in the UK.
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