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This site is intended for U.S. Healthcare Professionals.
To report an adverse event or product quality complaint, call 1-877-TAKEDA-7 (1-877-825-3327)
Not an actual patient.
AATD is a genetic condition associated with low protein levels of functional alpha-1 proteinase inhibitor (A1PI).2,3
The main clinical manifestations involve the lungs, leading to emphysema, and the liver, but it can also be associated with other skin and cardiovascular disorders.3,4,5
AATD is caused by a mutation in the SERPINA1 gene on chromosome 14 encoding for A1PI.6 Each person has two alleles (variants) of the gene, one inherited from each parent where the most common ones are:5
A1PI is primarily synthesized in the liver and secreted into the bloodstream where it diffuses into the lungs and other tissues.2,8,10 The main role of A1PI is to inhibit neutrophil elastase (NE) and keep its activity in check.2,10 NE is a proteinase responsible for the breakdown of a variety of proteins involved in modulating inflammation and therefore plays a key role in tissue repair and protection from infections.11 Therefore, a deficiency in functional A1PI results in excessive NE activity and leads to the degradation of lung tissue and blood vessels.12
The prevalence of AATD varies by genotype with an estimated 3.4 million people living with the disease worldwide (protease inhibitor [Pi] SS, PiSZ, PiZZ) and 116 million carriers (PiMS, PiMZ).2,13 In the U.S., it’s estimated that more than 500,000 people have deficient PiSS and PiSZ allele combinations, and 60,000 have the PiZZ genotype which is associated with severe deficiency, while more than 24 million people are carriers (PiMS, PiMZ).8
Variability in clinical presentations results in delayed and misdiagnosis, which means the majority of cases remain undiagnosed (>90%).1,14,15,16 A confirmed AATD diagnosis should involve both quantitative and qualitative laboratory determinations:10,17,18,19
The primary manifestations of AATD are lung disease and liver involvement, which are irreversible and progressive.20 Therefore, the consequences of delayed or misdiagnosis can be fatal in those patients with severe AATD; most commonly due to respiratory failure (58% of deaths), including pneumonia and pneumothorax; and liver diseases (12% of deaths), including liver failure and primary carcinoma.21 This leads to a high disease burden, associated with increased mortality, morbidity, quality of life impairment and cost.21,22,23,24,25,26 Nonpharmacological approaches are crucial to managing AATD and include smoking cessation, maintaining a healthy diet and moderate exercise, staying up to date with recommended immunization and pulmonary rehabilitation.17 Currently, augmentation therapy is the only A1P1 pharmacological option available and can be part of the strategy in the management of patients with AATD-related emphysema.10,27,28 It is administered by intravenous infusion and aims to increase serum A1PI levels.2 However, the manufacturing process is complex and expensive to produce as it needs to be purified from large volumes of human plasma.29
Medication Resources
[Alpha1-Proteinase Inhibitor (Human)]
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International conference showcasing the latest advances in pulmonary disease, critical illness, and sleep disorders for scientists and clinicians at all stages of their careers.
Regional annual conference discussing the most current information from top experts in allergy, asthma, and immunology.
The flagship meeting of the EAACI and the world’s largest congress specializing in the field of allergy and clinical immunology.
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Annual meeting in neurology promoting high quality patient-centric care in a variety of topics and specialties through various learning formats.
Annual conference ideal for infusion professionals or those seeking opportunities in the industry to come together and explore the latest trends in offering home-based services.
Every second year HAEi gathers HAE patients, caregivers, healthcare professionals, and industry representatives with a sole focus of sharing experience and knowledge on HAE topics.
Premier global educational event for allergists and immunologists, with thousands of attendees each year, discussing allergies, asthma, and immune deficiency disorders.
Annual scientific session uniting allergists, immunologists, nurses, and physician assistants aimed at maintaining the highest standard of practice in allergy care.
Global meeting featuring thought leaders from around the world focused on advancing patient care in allergy and immunology.
Annual event with more than 2,500 members and non-members of the AMCP to engage on the latest innovations and most intentional networking in managed care pharmacy.
The joint annual meeting of leading global societies dedicated to infectious disease research and advances.
Annual meeting offering the most up-to-date education in pulmonary, sleep, and critical care medicine through simulation sessions and original research presentations with clinical relevance to practitioners.
National conference of IgNS bringing together professionals and practitioners from all disciplines and clinical specialties to advance Ig therapy practice, while providing networking and comprehensive education opportunities.
Annual conference that invites state-of-the-art speakers from around the world to discuss basic science and clinical topics on allergy, asthma, and immunology.
The flagship meeting of the EAACI and the world’s largest congress specializing in the field of allergy and clinical immunology.
Annual meeting providing a forum for oncology professionals, patient advocates, and industry representatives to learn about and discuss the important issues in cancer care across a variety of disease sites, treatment approaches, and disciplines.
Regional annual conference discussing the most current information from top experts in allergy, asthma, and immunology.
International conference showcasing the latest advances in pulmonary disease, critical illness, and sleep disorders for scientists and clinicians at all stages of their careers.
Annual meeting with the goal of providing a stimulating forum with presentations and discussions on the latest advances in clinical immunology, including primary immunodeficiencies and immune dysregulatory diseases.
Leading global conference discussing how to establish, incentivize, and share value sustainable for health systems, patients, and technology developers.
Videos
Watch videos focused on Alpha-1 Antitrypsin Deficiency (AATD).
Learn about Alpha-1 Antitrypsin Deficiency (AATD) mechanism of disease in this animated video.