Alpha-1 AntitripysinCan you inherit lung disease?When you have a common illness, like an infection or are exposed to chemicals, like tobacco smoke, your liver releases a Protein called Alpha-1 antitrypsin (AAT) to help protect your lungs from damage from enzymes that are released by White blood cells. It is possible to inherit a disease known as AAT deficiency that causes your body to lack or produce low levels of this protective protein, which can lead to a lung disease know as Emphysema. Unlike the common form of emphysema seen in smokers, AAT deficiency can cause emphysema at an unusually young age and after minimal exposure to tobacco or no exposure at all. For those who have AAT deficiency and are smokers, emphysema may start 10 years earlier than those without the disease. AAT deficiency occurs in 1 out of 3,000 to 5,000 people and is a common deadly Hereditary disease. SymptomsThe most common symptom of AAT deficient emphysema is shortness of breath during physical activity and eventually during normal daily activities. Shortness of breath usually starts between the ages of 30 to 45, which is 20 to 30 years earlier than smokers with emphysema that do not have this deficiency. Other symptoms include cough, Sputum production, intermittent Wheezing, and recurring chest colds. Jaundice, Abdominal swelling, Gastrointestinal bleeding, and unexplained liver problems may also occur. AAT deficiency is often incorrectly diagnosed as Asthma, Sinusitis, post-nasal drip, or Acid reflux. Testing for AAT deficiency is quick, easy, and highly accurate with a simple finger stick. If your level of AAT is low, your doctor will follow up with Genetic Testing and other diagnostic tests. Who should be tested for AAT deficiency?If you have a family history of emphysema or liver disease at an early age, adult-onset asthma, or recurrent bronchitis you should be tested. It is also recommended that anyone diagnosed with COPD, as well as children with asthma that is not fully reversible, be tested for AAT deficiency. Testing is not only important for accurate diagnosis and treatment but should be used to alert other family members about their potential risk of disease. Once diagnosed, there are several steps that can be taken to prevent or slow the progression of the disease. The highest priority for patients with AAT deficiency is to quite smoking to reduce the risk of death and increase quality of life. The second priority is sound treatment including pulmonary Rehabilitation and bronchodilators to maximize Lung Function. A pneumonia and an annual Influenza (flu) vaccination can also help prevent respiratory infections. Additionally, weekly intravenous infusions of Alpha-1 antitrypsin as a replacement therapy for AAT may reduce symptoms, decrease the loss of lung function, and increase the survival of patients. Lung transplantation may also be an option for some patients with severe disease. What should you know if you have been diagnosed with AAT Deficiency?People with AAT deficiency should follow good health practices, including:
To help stay healthy, it is also best to avoid:
Talk with your familyAAT deficiency is a hereditary disease, which means it is passed from one generation to another. People with this condition should talk with their parents, brothers, sisters, and their children to encourage them to be tested for the disorder. Although others in the family may not test positive for AAT deficiency, they may be carriers of the disease. Genetic and psychological counseling can provide the knowledge and support needed for families who have been diagnosed with a hereditary condition. If you have any questions or would like more information, please ask your doctor about AAT and testing for AAT deficiency. Resources:
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