Alpha-1 antitrypsin deficiency (A1AD) shares similarities with asthma, which leads to it often being misdiagnosed as asthma. This misdiagnosis leads to insufficient treatment. Toronto Western Hospital’s Asthma and Airways Center studies a multitude of lung diseases, including A1AD and asthma. They worked on the Fractional Exhaled Nitric Oxide (FeNO) project and the Alpha-1 project.
About Alpha-1 Antitrypsin Deficiency (A1AD)
Alpha-1 antitrypsin deficiency (A1AD) is an inherited disorder that occurs due to low levels of the alpha-1 antitrypsin protein in the blood. It has the potential to lead to lung and liver disease, as well as problems in the skin. It appears in one of every 1,500-3,000 people of European ancestry.
A mutation in the SERPINA 1 gene causes this disorder as it is responsible for the production of the alpha-1 antitrypsin protein. Without this protein, the body has no protection from the enzyme neutrophil elastase, which fights infection. If this enzyme is unregulated it can attack the body’s healthy tissue, which in this illness is primarily the tissue of the lungs. It can also get stuck in the liver and cause damage there.
As A1AD has the potential to affect different areas of the body, symptoms can vary. Different people experience different levels of severity as well. Symptoms typically appear between the ages of 20 and 50. If one develops lung disease due to this disorder they may experience shortness of breath, wheezing, fatigue, activity intolerance, repeated respiratory infections, unintentional weight loss, rapid heart rate upon standing, and the development of emphysema. If one develops liver disease, the symptoms include a swollen and distended abdomen, jaundice, dark urine, elevated liver enzymes, chronic itching, swelling of the hands and feet, cirrhosis, and an increased risk of liver cancer. The least common symptoms of this deficiency are the skin symptoms. These include hard and painful lumps under the skin and skin lesions.
There is no cure for this disorder. As the most common symptom of A1AD is lung disease, treatment is often aimed at that. Doctors may prescribe medications to open the airways, vaccines to prevent infections, supplemental oxygen, and lung rehabilitation. The early diagnosis and treatment of any respiratory infections are important for treating A1AD as well. If one has a very severe case of this disorder, then a doctor may order a lung transplant. Specialists are needed for treatments of liver disease or skin symptoms if they occur.
About the FeNO Project
A Fractional Exhaled Nitric Oxide (FeNO) test is performed in order to test the levels of nitric oxide in the inflamed airways of asthma patients. While this test cannot diagnose asthma, it does measure one of asthma’s primary symptoms. Earlier research found a positive correlation between residual volume (RV) and post-bronchodilator response (BDR). The purpose of the FeNO project is to investigate the connections between the measurements found in FeNO tests and asthma biomarkers like RV and BDR.
This project included measuring patients’ FeNO data and developing a retrospective chart review, which included patients’ pulmonary function tests and regression analysis. This project confirmed previous research and found a significant positive correlation between the FeNO data and RV and BDR. Researchers hope that this data will lead to the rise of FeNO testing at other airways clinics.
About the Alpha-1 Project
This project combined healthcare and legal disciplines. It focused on augmentation therapy, which is an intravenous infusion of blood purified with the alpha-1 antitrypsin protein. In Canada, some private insurance companies may not cover this treatment, which brings the legal discipline into this study. Researchers looked at transparency issues between patients and insurance companies. They also examined genotypes, AAT serum levels, and PFTdata. They hope to bring clarity to the issues surrounding A1AD and the insurance that is needed to treat it.
Asthma and A1AD do share some of the same symptoms, but it is necessary that physicians correctly diagnose both disorders, as they require different treatments. The work being done at Toronto Western Hospital is meant to prevent further misdiagnosis and bring new insights into these diseases.
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