Alpha-1 Proteinase Inhibitor Deficiency

Alpha-1 Proteinase Inhibitor Deficiency General Information

Alpha-1 Proteinase Inhibitor Deficiency Symptoms

In a healthy body, alpha-1 antitrypsin is produced in the liver and then protects the lungs against elastase, a very powerful enzyme, by blocking it. After the white cells that carry the elastase finish their job, they leave behind a big amount of elastase; this protein inactivates the elastase that is in excess. When dealing with this disease, the enzyme has the power of destroying the normal sacs of air found in the lungs. Alpha-1 Proteinase Inhibitor Deficiency can provoke problems with the lungs in most cases, and sometimes with the liver. The probability of dying of a lung disease is up to 75% and of a liver disorder is only about 20%. When reaching the liver, Alpha-1 Proteinase Inhibitor Deficiency determines a higher risk of getting cirrhosis and chronic hepatitis, or more serious, hepatocellular carcinoma. The problems occurring with the lungs are mostly bronchiectasis and emphysemas. When treating the disease with alpha-1 proteinase inhibitors by injection, some adverse effects can be: itching, dizziness, hives, a low pressure of the blood, hard breathing, rashes, or closing of the throat. Some other not very serious effects are: chills, redness, swelling and pain at the injection location, fever, or headaches. Emphysemas are usually different if they affect the upper lobe or the lower lobe of the lung. Some patients have also accused vascular diseases, especially Wegner's granulomatosis. Coeliac disease, bladder cancer, paniculitis, pancreatitis, colo-rectal carcinoma, abdominal or intracranial aortic aneurysms, or glomerulonephritis can also be associated with this disease, but are rarely encountered.

Alpha-1 Proteinase Inhibitor Deficiency Treatment

Alpha-1 proteinase inhibitor is given as a treatment for patients suffering of congenital Alpha-1 Proteinase Inhibitor Deficiency. These patients usually have symptoms of emphysema. But the substance can be used for something else. When the disease causes COPD that is mainly the same as the other forms, so the procedures used to establish the right diagnosis are the same: X-rays, physical exams, levels of oxygen, a detailed medical history of your family (concerning lung diseases), and tests for breathing. Besides these, two other types of blood tests are usually performed. One of the tests helps determining the exact gene product that a person with Alpha-1 Proteinase Inhibitor Deficiency has. The second one is performed in order to find out what is the concentration of alpha-1 antitrypsin in the blood stream. A healthy individual has a genetic pattern, MM that maintains the normal quantity of alpha-1 antitrypsin in the blood. But there is also an abnormal gene, ZZ that can be observed in patients with Alpha-1 Proteinase Inhibitor Deficiency. There are persons that inherit, for example, only MZ, more specific, only a gene for this disease. The risk for them of developing Alpha-1 Proteinase Inhibitor Deficiency is not that increased.

A therapy for inherited emphysema is known since 1987 and the basis is the augmentation therapy, a special class of medicines that have their role in replacing intravenously (IV) the protein of the blood, alpha-1 antitrypsin with a normal one extracted from donors with healthy plasma. The doses given depend always on the weight of the patient and it is administrated once a week. Some examples of this type of medication therapy are Zemaira™, Prolastin® and Aralast™. In treating Alpha-1 Proteinase Inhibitor Deficiency, along this therapy with drugs, doctors recommend some additional factors: avoiding any kind of infections, therapies using oxygen, healthy lifestyle, rehabilitation of the pulmonary tract, physical exercises, and techniques to eliminate the mucus. When dealing with this disease is highly important to stop smoking because smoking usually accelerates the increasing of this disorder. Also, stay away from secondary smoke. The result is a shorten lifespan. If a member of the family is diagnosed with inherited emphysema it is very important that all members of that family assist to a genetic counseling. The individuals are advised to give up smoking and to make early interventions. Surgery can be another option of curing this disease. It can be performed either like a lung reduction operation or as a lung transplant. But not all patients with alpha-1 will develop emphysema. This is why is more correct to refer to alpha-1 as a condition or disorder, and not as a disease. This condition is sometimes associated with non-tuberculous mycobacterium (an atypical TB infection in the lungs). Studies upon new methods of treating this disorder caused by an abnormal gene are still developed in many parts of the globe. All new drugs are continually tested in the newest and modern laboratories and researchers are still looking for new more efficient ways to treat it.