Who should be tested for alpha-1?
Alpha-1 may result in serious lung disease in adults and/or liver disease at any age. The Alpha-1 Foundation encourages testing for Alpha-1 among those at high risk for this genetic disorder. Anyone can ask their doctor to test them for Alpha-1 or they may choose to be tested confidentially.
How do I apply for assistance with patient assistance?
To apply for assistance you first need to locate the program below by disease state. Then follow the related contact information. If you do not see a patient assistance program listed that meets your specific need, please contact us for more information at: 1-800-999-6673.
What is alpha-1 antitrypsin deficiency (A1AD)?
Alpha-1 antitrypsin deficiency (A1AD) is a hereditary disorder characterized by low levels of a protein called alpha-1 antitrypsin (A1AT) which is found in the blood.
What is the pathophysiology of alpha 1 deficiency?
LUNG DISEASE. Alpha-1 antitrypsin deficiency-associated lung disease is characterized by progressive degenerative and destructive changes in the lungs (emphysema, commonly of the panacinar type). Emphysema is a chronic, usually slowly progressive illness, which most commonly causes shortness of breath.
What does it mean to be an alpha one carrier?
What is meant by the term “Alpha-1 carrier”? An Alpha-1 carrier is a person who has one normal alpha-1 gene (M) and one defective alpha-1 gene (usually Z or S). Being a carrier is very common. It is believed that over 19 million people in the United States are carriers. Most Alpha-1 carriers are MZ or MS.
How do I live with alpha-1?
Tips for Living With Alpha1-Antitrypsin DeficiencyTry to quit smoking and avoid secondhand smoke. Smoking may speed up the progression of lung damage in patients with alpha-1. ... Be careful of infections. ... Try to stay away from environmental pollutants. ... Eat healthy. ... Maintain a healthy weight. ... Exercise regularly. ... Minimize stress.
How is Alpha 1 Antitrypsin Deficiency inherited?
This condition is inherited in an autosomal codominant pattern . Codominance means that two different versions of the gene may be active (expressed), and both versions contribute to the genetic trait. The most common version (allele) of the SERPINA1 gene, called M, produces normal levels of alpha-1 antitrypsin.
Do both parents have to have alpha-1?
Both parents must have at least one copy of the abnormal alpha-1 antitrypsin deficiency gene in order for their child to inherit the disease.
Is alpha-1 a terminal illness?
Outlook / Prognosis Many people with Alpha-1, especially those who do not smoke, do not develop serious complications. They have a normal life expectancy. Other people may develop more serious conditions as a result of the disorder.
Can you drink alcohol with alpha-1 antitrypsin?
“Most liver specialists would recommend no alcohol or at least very minimal intake for any individual with Alpha-1 whether or not there is any evidence of liver damage. “Risk factors for the liver disease of Alpha-1 are not as well identified as those for lung disease.
Is alpha-1 Serious?
Alpha-1 may result in serious lung disease in adults and/or liver disease at any age.
Does alpha-1 cause tiredness?
Numerous studies confirm that some AATD-affected individuals have low quality of life, more comorbidities, and a higher mortality rate than the usual population. Dyspnea and fatigue are the most common clinical manifestations.
Is alpha-1 a rare disease?
Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed.
Who should be tested for alpha-1?
Because most people with alpha-1 don't know they have it, many experts recommend alpha-1 testing for everyone with COPD or emphysema. It's also suggested if you have asthma that doesn't get better with treatment.
Does alpha1 cause fatty liver?
When a person has alpha-1 antitrypsin deficiency, the AAT in the liver is abnormal and not released from the liver at a normal rate. “It accumulates in the liver, where it's toxic to the liver cell, and can ultimately lead to inflammation, cirrhosis, nonalcoholic fatty liver disease and liver cancer,” Dr. Donohue says.
What are the signs of alpha-1?
Shortness of breath. Excessive cough with phlegm/sputum production. Wheezing. Decrease in exercise capacity and a persistent low energy state or tiredness.
Is alpha-1 antitrypsin deficiency dominant or recessive?
Alpha-1-antitrypsin deficiency is an autosomal recessive disorder. The most common manifestation is emphysema, which becomes evident by the third to fourth decade. A less common manifestation of the deficiency is liver disease, which occurs in children and adults, and may result in cirrhosis and liver failure.
Is alpha-1 a dominant or recessive?
From the perspective of having the genetic disorder, Alpha-1 mostly follows an autosomal recessive inheritance pattern: it takes two non-working alleles to cause the disorder.
Is antitrypsin hereditary?
Alpha-1 antitrypsin deficiency is a common inherited genetic condition that can cause chronic lung and liver disease.
What produces alpha1 antitrypsin?
Alpha-1-antitrypsin is produced by human neutrophil granulocytes and their precursors and liberated during granule exocytosis.
How to register for Alpha 1?
For information or to register, go to www.alphaone.org or call the Foundation at (877) 866-2383.
What is the function of Alpha-1 antitrypsin?
Alpha-1 antitrypsin is ordinarily released by specialized, granules within a type of white blood cells (called neutrophils or polymorphonuclear leukocytes) in response to infection or inflammation. Deficiency of alpha-1 antitrypsin results in unbalanced (i.e., relatively unopposed) rapid breakdown of proteins (protease activity), ...
What is the cause of A1AT?
A1AT is caused by mutations in the SERPINA1 gene that is responsible for production of the alpha-1 antitrypsin protein. Normally, this protein is produced in the liver and released in the blood and functions to protect the body from the neutrophil elastase enzyme. A1AT also appears to have anti-inflammatory effects independent ...
What is the pulmonary disease A1AT?
LUNG DISEASE#N#Alpha-1 antitrypsin deficiency-associated lung disease is characterized by progressive degenerative and destructive changes in the lungs (emphysema, commonly of the panacinar type). Emphysema is a chronic, usually slowly progressive illness, which most commonly causes shortness of breath. Other symptoms may include chronic cough, phlegm production, and wheezing. Frequent respiratory infections may also occur. Serious changes that occur in the lungs and other organs of the body may develop by the time the person reaches the age of 40 – 50 years (but may also occur only later in life). Some individuals with severe deficiency of A1AT never develop emphysema and have a normal life, especially if they never smoke. Individuals affected by A1AD often experience long diagnostic delays and visits to many different health care providers before the diagnosis is made for the first time.
How many people have A1AD?
Alpha-1 antitrypsin deficiency (A1AD) is a disorder that occurs most frequently in Americans of Northern or Central European descent, affecting approximately 100,000 Americans. However, because most cases of A1AD go unrecognized, the disorder is very much under-diagnosed. Estimates suggest that only 10% or fewer of these estimated 100,000 ...
What is the A1AD?
Alpha-1 antitrypsin deficiency (A1AD) is a hereditary disorder characterized by low levels of a protein called alpha-1 antitrypsin (A1AT) which is found in the blood. This deficiency may predispose an individual to several illnesses and most commonly manifests as chronic obstructive pulmonary disease (including bronchiectasis) and liver disease (especially cirrhosis and hepatoma), or more rarely, as a skin condition called panniculitis. A1AD is also more frequent among individuals with Wegener’s granulomatosis, now called polyangiitis with granulomatosis. A deficiency of A1AT allows substances that break down proteins (so-called proteolytic enzymes) to attack various tissues of the body. The attack results in destructive changes in the lungs (emphysema) and may also affect the liver and skin. Alpha-1 antitrypsin is ordinarily released by specialized, granules within a type of white blood cells (called neutrophils or polymorphonuclear leukocytes) in response to infection or inflammation. Deficiency of alpha-1 antitrypsin results in unbalanced (i.e., relatively unopposed) rapid breakdown of proteins (protease activity), especially in the supporting elastic structures of the lungs. Over years, this destruction can lead to progressive emphysema and is accelerated by smoking, some occupational exposures, and likely by other genetic modifiers of this risk which remain incompletely understood.
What is the role of A1AT in the body?
A deficiency of A1AT allows substances that break down proteins (so-called proteolytic enzymes) to attack various tissues of the body. The attack results in destructive changes in the lungs (emphysema) and may also affect the liver and skin. Alpha-1 antitrypsin is ordinarily released by specialized, granules within a type of white blood cells ...
What is the Rare Disease Educational Support Program?
This program provides reimbursement for registration costs for rare disease-specific educational offerings, as well as programs that support patients’ health and well-being, such as workshops, nutrition classes and conferences. In addition to assisting with registration fees, the Rare Disease Educational Support Program provides limited financial assistance to patients and caregivers for travel and lodging costs.
Who must have a confirmed rare disease diagnosis?
The individual and/or immediate family within the household must have a confirmed rare disease diagnosis.
What insurance do you need to get medical assistance?
Patient must be insured by Medicare, Medicaid or military benefits, and insurance must cover the medicine for which patient seeks assistance
What is a senior program?
Programs are for seniors and/or people with certain chronic conditions; The programs assist low-income seniors and adults with disabilities in paying for their prescription drugs
What is the purpose of the asthma coupons?
They compile coupons and prescription assistance information to help patients and families find free or reduced-cost asthma medicines.
How to contact Social Security for extra help?
Extra Help (Social Security Administration) 800-772-1213. (TTY 800-325-0778) Check with organization for more details. Yes, for eligible individuals. To qualify you must receive Medicare, have limited resources and income, and live in one of the 50 states or the District of Columbia.
Is AZandMe a copay?
800-AZandMe (292-6363) Yes, for eligible individuals. A copay program and an assistance program are available depending on eligibility. Genentech and Novartis (Xolair) 888-941-3331. Yes, for eligible individuals. A copay program and an assistance program are available depending on eligibility.
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What is Onepath for healthcare?
With OnePath®, patients and caregivers have personalized product support, provided by a dedicated team of specialists. Some OnePath team members are available to meet in person with patients, caregivers, and healthcare providers, depending on the specific need, medication, or treatment access challenge.
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OnePath can help by: Assisting with insurance access and coverage issues, conducting benefit investigations, and providing information about financial assistance options, such as the OnePath Co-Pay Assistance Program. Working with specialty pharmacies to set up treatment shipment and delivery.
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Help At Hand provides assistance to eligible patients who have no insurance or who do not have enough insurance and need help getting their Takeda medicines. *
The PROLASTIN DIRECT program gives you the confidence that ongoing personalized support is there for you when needed
The PROLASTIN DIRECT program provides you with a team dedicated to alpha-1 care that will assist you with securing insurance coverage, coordinating infusions, and managing your health.
The PROLASTIN DIRECT program will support you every step of the way
The PROLASTIN DIRECT program provides the following ongoing benefits and services at no additional cost to you:
Take comfort in knowing there is a team of dedicated alpha-1 experts to help manage your alpha-1
Because you have been prescribed PROLASTIN-C LIQUID, you are automatically enrolled in the PROLASTIN DIRECT program. Once the PROLASTIN DIRECT team receives your prescription from your doctor, they will call you within 24 hours.
