Our Alpha-1 glossary allows you to search specifically for technical terms and abbreviations related to Alpha-1 antitrypsin deficiency. Similar to a dictionary, we offer a comprehensive collection of keywords on Alpha-1: from A for antitrypsin to Z for ZZ type.
Note: The glossary is still under construction and is regularly updated with new terms.
The Alliance for Chronic Rare Diseases (ACHSE) is an umbrella organization by and for people with chronic rare diseases and their families in Germany. More than 130 patient organizations are now members of the association, including Alpha1 Germany. ACHSE pools expertise and knowledge in the field of rare diseases and represents the interests of affected individuals.
You can find more information about the AXLE here. HERE
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Alpha-1-antitrypsin (AAT) is a protein that inhibits the activity of various endogenous enzymes, primarily trypsin and neutrophil elastase. In the lungs, white blood cells combat foreign bodies (e.g., dust particles, germs, or cigarette smoke) by releasing enzymes such as neutrophil elastase to eliminate them. This process is regulated by AAT.
If, due to an unfavorable gene combination inherited from the parents, not enough AAT is produced, the effect of various enzymes in numerous parts of the body tissue can no longer be controlled and also destroys the body's own tissue, such as lung tissue.
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Alpha-1 centers are specialized facilities where doctors from various practices and clinics have joined forces to provide the best possible care for patients with alpha-1 antitrypsin deficiency (AATD).
For adults with AAT₂, there are primarily pulmonological Alpha-1 Centers, while Alpha-1 Children's Centers are specifically geared towards the needs of affected children and their families. The Alpha-1 Centers actively contribute to disseminating knowledge about Alpha-1 Antitrypsin Deficiency, both for physicians and for affected individuals and their relatives. They act as a liaison between specialists in hospitals and private practices, the AAT Central Laboratory, and the German AAT₂ Registry. The goal is to further expand collaboration with these institutions.
The Alpha-1 Centers are not independent organizations, but a section within the German Respiratory League e.V.
The Alpha-1-Center is led by a team consisting of Prof. Dr. Rembert Koczulla (spokesperson) from Berchtesgaden, Prof. Dr. Robert Bals (deputy spokesperson) from Homburg/Saar and Prof. Dr. Timm Greulich (treasurer) from Marburg.
https://www.alpha-1-center.org/
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Alveoli are tiny air sacs at the end of the airways. In them, oxygen is absorbed into the blood and carbon dioxide is released.
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Anticholinergics are medications that relax and widen the airways, making breathing easier.
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„"Aut idem" is a term from pharmacology meaning "or the same." It is used on prescriptions to indicate that the doctor has authorized a pharmacist to substitute a prescribed medication with an equivalent, but potentially less expensive, alternative. This could be, for example, a generic drug or another product with the same active ingredient and dosage. If "aut idem" is noted on a prescription, the pharmacy can replace the original medication with an alternative, unless the doctor has explicitly prescribed the original medication.
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Base editing is a precise genetic engineering technology that can selectively modify individual DNA base pairs without cutting the DNA strands. It uses modified CRISPR systems to correct or introduce point mutations, potentially treating genetic diseases.
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Beta-2 sympathomimetics are medications that quickly relax the muscles of the airways. They help relieve shortness of breath and allow air to flow more easily into the lungs.
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Biological medicines have a complex structure due to their production from living cells. These so-called biologics are now used for many indications. Biosimilars are follow-on products of the original biological medicines (reference products). Due to the natural variability of living cells, biosimilars are not identical, but very similar to the original products in terms of efficacy, safety, and quality. Generally, their use is identical to that of the reference product. As a precaution, manufacturers must demonstrate in studies that the products/medications are equivalent. Biosimilars are only available after consultation with a doctor. Substitution at the pharmacy is possible under certain conditions. Biosimilars sometimes offer a more cost-effective alternative to expensive original biological preparations without compromising on quality and efficacy. Ultimately, the doctor decides whether you should receive the original or a biosimilar, taking into account both costs and your individual tolerance.
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Cor pulmonale refers to a strain or weakness of the right side of the heart. It usually develops as a consequence of chronic lung diseases.
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We work closely with the German Respiratory League eV. together. It was founded in 1979 as a non-profit organization and its tasks are
● Continuing education for physicians
● Information for patients and the public
● Support for prevention and early detection programs
● Promoting quality assurance in diagnostics and therapy
The organization is well explained in this video
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The German Society for Internal Medicine eV. (DGIM) originated in 1882 from the first "Conference for Internal Medicine" in Wiesbaden and still sees its task today as preserving the unity of internal medicine and providing a platform for scientific exchange.
Today, the DGIM is Europe's largest medical-scientific society with over 30,000 members. Click here for the promotional video. here.
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Every year we report on the DGP Congress, and "DGP" comes up again and again in our presentations, but what does it actually stand for, who does what there, and why? The German Society for Pneumology and Respiratory Medicine e. V. (DGP) short video created and we thank the society for their valuable work for us patients.
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The German Lung Foundation (Deutsche Lungenstiftung e.V.) is a non-profit organization dedicated to improving the lives of patients with lung diseases since its founding in 1994. It advocates for key future issues related to the environment and lung health and works closely with the German Society for Pneumology and Respiratory Medicine (Deutsche Gesellschaft für Pneumologie und Beatmungsmedizin).
The foundation places science and society at the center by addressing topics such as the lungs in the public sphere, for example through the publication of the "White Paper on Lungs". It also serves as a contact point for the media and connects experts with relevant topics.
Other tasks of the foundation include:
The foundation is financed exclusively through membership fees, donations and grants.
Source: https://lungenstiftung.de/
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A Disease Management Program (DMP) is a structured treatment program for people with chronic illnesses. It supports regular care and helps to better control the disease.
You can find more information at IQWiG
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The German Centres for Health Research (DZG) They work closely together to combat widespread diseases. The goal is to exchange experiences and leverage synergies to develop better therapies and diagnostic procedures for these major diseases. The German Centers for Health Research are funded by the Federal Ministry of Education and Research (BMBF) and the federal states where they are located. The following centers are part of this consortium: DKTK (German Consortium for Translational Cancer Research), DZD (German Center for Diabetes Research), DZHK (German Center for Cardiovascular Research), DZIF (German Center for Infection Research), DZL (German Center for Lung Research), DZNE (German Center for Neurodegenerative Diseases), and DZPG (German Center for Mental Health).
Here You can find an explanatory video here.
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Founded in 2011 German Center for Lung Research (DZL) Currently, over 250 project leaders and their research groups at five locations are collaborating to combat lung diseases by developing new, innovative therapies. Many of these researchers work in multiple disease areas, allowing for the optimal integration of ideas and findings across disciplines and their rapid translation into practical applications (translational medicine). This research is funded by the Federal Ministry of Education and Research (BMBF) and the federal states where the respective research clusters are located.
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EARCO stands for European Alpha-1 Research Collaboration. It is a pan-European network dedicated to promoting clinical research and education on alpha-1 antitrypsin deficiency (AATD). Its core project is the International AATD Registry, a collaboration open to all researchers worldwide who care for patients with AATD.
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ELF is a patient-led organization that works internationally to bring patients and the public together with healthcare professionals to improve lung health and enhance diagnosis, treatment and care.
Endoscopic lung volume reduction (ELVR or BLVR)
Endoscopic lung volume reduction (ELVR) is a minimally invasive procedure for treating advanced pulmonary emphysema. The goal is to reduce overinflated lung areas, improve the mechanics of the diaphragm and chest wall, and facilitate breathing. Various methods exist for this; the most common method in AAT deficiency is the use of valves.
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The European Medicines Agency (EMA) is an agency responsible for protecting and promoting the health of humans and animals in the European Union (EU) and the European Economic Area (EEA). It evaluates and monitors medicines to ensure that they are safe and effective.
The EMA's main tasks include the authorization and monitoring of medicines in the EU. Companies wishing to launch new medicines must apply for centralized authorization from the EMA. If this authorization is granted, the medicine is permitted to be marketed throughout the EU and the EEA. Since many medicines in Europe are authorized via the centralized authorization procedure, the EMA is the central authority for most medicine approvals in the region.
In addition, the EMA supports the research and development of new medicines through scientific guidelines and advice, as well as incentives for companies. A particular focus is on the development of medicines for children and the treatment of rare diseases. https://www.ema.europa.eu/en/homepage
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Eosinophils are a special type of white blood cell and belong to the body's immune system. Besides their role in the immune response, they are involved in inflammatory processes and can exacerbate them, including in the respiratory tract. Eosinophils are frequently used as biomarkers and, in combination with other values, can provide physicians with information about certain forms of inflammation and potential treatment options.
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The EUTB It helps people with disabilities, or people who might develop a disability. To this end, advice centers were established on January 1, 2018. Today (2024), those seeking advice can freely choose from 773 main and branch locations of the Supplementary Independent Participation Advice service.
Since 2023, the federal government has funded the EUTB (Independent Participation Advisory Service) with €65 million annually. This funding is provided for a seven-year approval period to ensure planning security for advisory services and advisors.
Further information as well Aims and tasks of the EUTB Please refer to the links.
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ERN/DRN stands for European Reference Network and German Reference Network, and both terms refer to specialized networks that play a key role in the medical care of rare diseases.
A European Reference Network (ERN) is a Europe-wide network of specialized medical institutions and experts focusing on rare and complex diseases. These networks were established by the European Union to promote collaboration and knowledge exchange between clinics, research institutions, and professionals across Europe. The aim is to improve the care of patients with rare diseases by pooling expert knowledge from different countries and making it accessible to affected patients.
ERNs enable patients who cannot find specialized treatment in their home country to access highly qualified medical professionals and innovative treatment options across Europe.
German Reference Network (DRN):
The German Reference Network (DRN) is the German counterpart to the European Reference Networks.
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ERN-LUNG is a Europe-wide network of specialized clinics and experts for rare lung diseases. Its aim is to pool knowledge and experience across national borders to improve the diagnosis, treatment, and care of affected individuals.
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ERN RARE-LIVER is a pan-European network of centers of excellence for the clinical management of rare liver diseases in adults and children. Diseases currently covered by the network include autoimmune liver diseases (AILD), metabolic disorders, biliary artresia and related conditions, structural liver diseases, and rare liver diseases in pregnancy. The network aims to improve the standards of clinical knowledge and patient care for rare liver diseases across Europe. Working closely with clinical centers, physicians, and patient organizations, the network will pursue the following objectives: disseminating best practices guidelines; utilizing innovative IT solutions to provide clinicians with access to expert knowledge from across Europe; updating clinical guidelines to standardize care; and providing relevant, high-quality information to patients.
One of the goals is to create a registry for rare liver diseases. video explains the background of the register.
ERN Rare Liver has created many videos for patients, such as one about Liver transplant.
As an ERN member, our advisory board member Prof. Pavel Strand also gave a lecture/webinar on the topic of Alpha-1:
In this ERN webinar on rare liver diseases, which took place on December 12, 2023, Prof. Strnad and Dr. Ruiz gave an exciting update on alpha-1 antitrypsin deficiency. The presentation covered siRNA therapy in hepatology: α1-AT deficiency.
Alpha-1 Antitrypsin Deficiency: A Flagship Case for Nucleic Acid Therapy https://easlcampus.eu/videos/ern-rare-liver-demand-webinar-alpha-1-antitrypsin-deficiency-poster-child-nucleic-acid
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The ERS is the largest scientific society for pulmonology in Europe. It promotes research, continuing education and international collaboration, develops medical guidelines and advocates for better prevention, diagnosis and treatment of lung diseases.
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An exacerbation refers to a worsening or acute worsening of a pre-existing condition. The term is frequently used in connection with chronic diseases such as asthma, COPD, or other respiratory conditions like AAT deficiency.
During an exacerbation, the symptoms of the disease appear suddenly or more severely than usual; that is, they exceed the normal daily fluctuations, last longer than 24 hours, and require more intensive treatment. For example, in COPD or asthma, shortness of breath, coughing, or sputum production may increase significantly.
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FeNO measurement is a simple, quick breath test. It measures the level of nitric oxide (NO) in exhaled air. This value indicates the degree of airway inflammation – especially in allergic or eosinophilic asthma.
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FEV1 (forced expiratory pressure in 1 second) is the term used to describe the capacity to exhale air in one second. It is an important test for patients with alpha-1 antitrypsin deficiency, as the result is often used to determine whether replacement therapy should be initiated. The test measures the maximum amount of air the patient can forcefully exhale within one second. The FEV1 value is part of the lung function test, which is a routine examination for patients with alpha-1 antitrypsin deficiency.
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Fibrosis is a condition in which too much connective tissue forms in an organ or tissue. Normally, connective tissue supports the body and holds organs together. In fibrosis, however, the connective tissue grows uncontrollably, causing the affected organ to become harder and unable to function properly.
Connective tissue can be visualized as a net-like tissue found throughout the body, stabilizing organs. When too much of it is produced, it forms hardened areas that impair the organ's mobility or function. This occurs, for example, in the lungs, where connective tissue forms between the alveoli and blood vessels, making breathing difficult. A similar process occurs in the liver, where the degree of fibrosis can be measured using a FibroScan.
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Gastroenterology is a subspecialty of internal medicine. gastroenterologist It deals with the diagnosis, therapy and prevention of diseases of the gastrointestinal tract and the organs associated with this tract: liver, gallbladder and pancreas.
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Generics are remade pharmaceutical products. After approximately 20 years, patent protection expires, and other manufacturers are allowed to market the drugs, usually at significantly lower prices. The active ingredient must be identical to the previously approved drug, although it may differ in terms of excipients and manufacturing technology. Biosimilars and generics – what's the difference? Generic drugs, or generics for short, are also copycat products. However, unlike biosimilars, they are chemically synthesized drugs. Unlike biosimilars, the active ingredient in a generic drug is identical to that of the original drug.
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Hepatitis is an inflammation of the liver that can have many causes. Ultimately, it is a defense reaction of the body's own immune system to infections, toxins, alcohol, or medications. Sometimes, liver inflammation is also the result of an autoimmune or metabolic disease.
More about Hepatitis A to E -> CLICK HERE
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Hepatology is a subspecialty of gastroenterology. Hepatologists They deal specifically with diseases of the liver and gallbladder or bile ducts; however, there is no specific training for this profession in Germany.
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Health Technology Assessment (HTA)
Health technology assessment (HTA) examines the usefulness and effectiveness of new healthcare offerings or technologies. This assessment primarily relies on previously conducted studies. The term "technology" encompasses not only medications and medical devices, but also programs and measures aimed at promoting health, preventing disease, or treating illness.
Health Technology Assessment (HTA) reports help those who finance healthcare, such as health insurance companies, decide whether to reimburse certain treatments or medications. They assess not only the medical effectiveness of a technology, but also its economic, social, ethical, and organizational impacts.
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An ICS (inhaled corticosteroid ("cortisone") has a local anti-inflammatory effect in the airways and is a cornerstone of asthma treatment; in COPD only in special cases (e.g. frequent exacerbations).
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A fixed combination of an anti-inflammatory drug (ICS) and a long-acting bronchodilator (LABA) that is standard in asthma therapy; used only in some cases in COPD.
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Triple combination therapy consisting of an anti-inflammatory drug (ICS) and two long-acting bronchodilators (LABA + LAMA). It is frequently used for severe asthma or severe COPD with frequent exacerbations.
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Inflammation Inflammation, also known as inflammation, is an important defense mechanism of the body. Its function is to remove harmful stimuli and repair damaged tissue, for example, in the case of a minor skin injury. Inflammation can also affect organs – for example, the lungs.
The mostly beneficial inflammatory response becomes harmful whenever it becomes chronic, excessively strong, or directed against healthy tissue.
What exactly do they mean? Inflammation And how do these affect acute and chronic lung diseases? The following video provides an explanation.
https://www.youtube.com/watch?v=rw4x2reWvMo&t=6s
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A combination of two long-acting bronchodilators with different mechanisms of action. This combination is an important component of COPD therapy; rarely used for severe asthma.
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A pulmonary embolism occurs when a blood clot (usually from the legs or pelvis) travels to the lungs and blocks one or more blood vessels. This interrupts the blood supply to parts of the lungs. Pulmonary embolisms can vary in severity, from minor blockages to severe, life-threatening cases where blood flow to large areas of the lungs is obstructed.
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Pulmonary emphysema is a progressive, irreversible, chronic lung disease in which the tiny air sacs at the ends of the bronchioles are permanently enlarged and destroyed. This creates larger air sacs that trap air, reducing the surface area available for gas exchange. Affected individuals have difficulty breathing, even though their lungs are filled with air. This condition is also known as pulmonary hyperinflation or emphysema. The most important points in brief from the Lung Information Service.
Typical early signs are:
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The Lung Emphysema Registry (LE Registry) is a non-profit, manufacturer-independent association of clinics and experts in Germany that has been systematically collecting clinical data from patients with severe lung emphysema (COPD, Gold Stage III/IV) since around 2017.
The aim is to improve the quality of therapy and healthcare research by observing treatment methods such as surgical or endoscopic lung volume reduction (e.g., valves and coils to reduce lung overinflation) for up to five years.
The registry works closely with professional societies such as DGP, DGT and DRG and supports the certification of interventional emphysema centers (ICLEZ) for quality assurance.
Further information at lungenemphysemregister.de and in the video Recorded at the DGP Congress.
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Lung transplantation is a medical procedure used to treat advanced lung diseases, in which one or both lungs, or individual lung lobes, are transferred from an organ donor to a recipient. There are different types of lung transplantation:
This procedure is performed in cases of serious lung diseases when other treatment options are no longer sufficient.
You can find more information at the leading transplant centers in Hanover and Essen or at:
https://www.lutx.de/ or https://www.transplantation-verstehen.de/organe/lunge/voraussetzungen-und-wartezeit
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The methacholine challenge test is a diagnostic procedure used to assess airway sensitivity, particularly to investigate suspected asthma. The test subject inhales increasing concentrations of the drug methacholine, which causes bronchoconstriction; lung function is then measured. An excessive reaction indicates increased bronchial hyperresponsiveness.
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One parameter for determining the severity of liver disease is the MELD score (Model for End-stage Liver Disease). It was introduced in 2002 by the United Network for Organ Sharing (UNOS), adopted by Eurotransplant in 2003, and is used to prioritize patients with severe liver damage for the allocation of a donor organ.
The MELD score is based on three laboratory parameters identified as the most reliable predictors of the progression of severe, transplant-dependent liver disease: bilirubin, creatinine, and blood clotting time, the latter measured using the INR (international normalized ratio). The MELD score is calculated from these parameters as follows:
10 × (0.957 × ln(serum creatinine [mg/dl]) + 0.378 × ln(total bilirubin [mg/dl]) + 1.12 × ln(INR) + 0.643).
The score is rounded to whole numbers and ranges between 6 and 40 points. The higher the score, the greater the probability of dying within three months without a transplant.
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This term has only existed since 1983 and is used for drugs intended for the treatment of a rare, serious disease. European approval statistics show that in the last 10 years, one in three drugs has been an orphan drug, but this is far from sufficient, given the large number of rare diseases (approximately 8,000). One advantage in drug development is orphan status, meaning that additional benefit is assumed even if sufficient data is not yet available. This is then reviewed again at the time of approval.
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At a Panniculitis Panniculitis is an inflammation of the fatty layer beneath the skin. The diagnosis is often made based solely on symptoms, such as painful, red bumps under the skin, and/or confirmed by a biopsy (tissue sample). The causes of panniculitis are varied; one of them is alpha-1 antitrypsin deficiency. While there are no specific treatments for panniculitis, significant improvement can be achieved through alpha-1 antitrypsin replacement therapy in cases of alpha-1 deficiency.
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The Paul Ehrlich Institute (PEI) is responsible for vaccines and biomedicines in Germany. Its approximately 900 employees work from Langen (near Frankfurt am Main) for the German Federal Government and receive their orders from the Federal Ministry of Health.
The main points:
Furthermore, the PEI performs an advisory function in the national (for the federal government and states) as well as international environments (for e.g. the WHO, the Council of Europe and many others).
The basis is our own experimental research in the field of biomedicine and life sciences.
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A Protease inhibitor A protease inhibitor is a molecule (or drug) that inhibits the activity of enzymes. Proteases are enzymes that break down proteins by cleaving them. Protease inhibitors block this activity, thus preventing the breakdown of certain proteins. They play an important role in the body because they help regulate protein breakdown and protect tissues from damage. PiZZ, PiMM or others These are special protease inhibitors that inhibit the enzyme activity of neutrophil elastase, a protease produced by the immune system that attacks bacteria and damaged tissue. Depending on which letters follow the Pi*, this protection is impaired.
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The Robert Koch Institute (RKI) It is subordinate to the Federal Ministry of Health. It functions as the central institution of the Federal Government in the areas of disease surveillance and disease prevention and also plays a leading role in application-oriented biomedical research.
The Robert Koch Institute's (RKI) main tasks include the detection, prevention, and control of diseases, particularly infectious diseases. The institute is legally obligated to generate scientific findings that serve as the basis for health policy decisions. Its focus is on the epidemiological investigation and medical analysis of diseases that are either particularly dangerous, widespread, or of major public and health policy significance.
The RKI advises the relevant ministries, in particular the Federal Ministry of Health (BMG), and participates in the development of norms and standards in the healthcare sector. Furthermore, it informs the professional community and increasingly the general public.
Source: https://www.rki.de/DE/Home/homepage_node.html
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A SAMA (short-acting anticholinergic) blocks certain receptors in the lungs, thus relaxing the respiratory muscles. It is primarily used in COPD for the rapid relief of breathing difficulties.
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The se-atlas is a web-based platform developed as part of the National Action Plan for People with Rare Diseases and funded by the Federal Ministry of Health. It provides an overview of care options for people with rare diseases in Germany, including healthcare facilities and self-help organizations. These are presented both on an interactive map and in a list.
The atlas is aimed at patients, relatives, doctors, medical staff, and other interested parties. The data it contains is primarily drawn from existing data collections, which have been compiled in the se-atlas and are continuously being expanded. Since its publication in 2015, the database has been growing steadily, supported by user feedback.
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A spacer is an inhalation aid that is placed between the inhaler and the mouth. It ensures that more medication reaches the lungs and makes it easier to use.
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Cirrhosis is a specific form of fibrosis that primarily affects the liver. It develops when excessive connective tissue forms in the liver over a prolonged period, gradually replacing liver cells with scar tissue. This leads to hardening of the liver and progressive impairment of its function.
Cirrhosis most often develops as a consequence of chronic liver diseases such as alcohol abuse, chronic viral hepatitis, or non-alcoholic fatty liver disease (NAFLD). However, it can also develop due to other factors such as alpha-1 antitrypsin deficiency.
In its early stages, cirrhosis often has no symptoms, but over time serious problems such as jaundice, impaired liver function, blood clotting disorders, or ascites (fluid accumulation in the abdomen) can develop.
A disease is considered "rare" if it affects fewer than 5 in 10,000 people. In such cases, a correct diagnosis is often a great help.
Rare Disease Centers (RCCs) are specialized medical facilities that focus on the diagnosis, treatment, and care of patients with rare diseases. These centers play a crucial role in providing care for people whose diseases affect only a very small number of individuals – often with specific, complex, and little-known clinical presentations.
The strength of the Center for Rare Diseases (ZSE) lies in the collaboration of multidisciplinary teams, including specialists from various disciplines such as pulmonologists, neurologists, cardiologists, geneticists, psychologists, and other specialists. This enables comprehensive care, as rare diseases can often affect multiple organ systems. In addition to physicians, nurses and therapists are also involved in the care. Furthermore, ZSEs offer advanced diagnostic techniques that help to identify rare diseases more quickly and accurately. These include genetic tests, specialized imaging, and molecular biological analyses.
ZSEs work closely with European Reference Networks (ERNs) and other national and international research institutions to incorporate the latest scientific findings into patient care.
They also cooperate with self-help groups to better support patients and their families.
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The most common type in alpha-1 antitrypsin deficiency is the homozygous Z type. PI*ZZ, i.e., the Z mutation is present in both gene copies.
Many severely affected patients in Germany have an underlying Pi*ZZ (ZZ) mutation. However, there are also over 200 other mutations. rare mutations.
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