Alpha 1 Antitrypsin Deficiency Causes Lung Disease in Tina Middleton Chapman

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  Hello, my name is Tina Middleton Chapman and I am 46 years old.  I live in New Tazewell, TN (USA), and I have https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001178/. I am diagnosed with stage 2 Emphysema.  In September 2011, I started infusions therapy, and in February 2012, I had a port surgically placed  for my weekly treatments. Alpha-1 occurs when there is a lack of a protein in the blood called Alpha-1 Antitrypsin or AAT that is produced by the liver. Alpha-1 Antitrypsin deficiency can’t be diagnosed by symptoms or by a medical examination; you need to get a blood test to know for sure. There is no cure for Alpha-1 lung disease, but some treatments are available.

ATT is a condition that raises your risk for certain types of lung disease, especially if you smoke. AAT deficiency is an inherited condition. “Inherited” means it’s passed in the genes from parents to children. Some people who have severe AAT deficiency develop emphysema often when they’re only in their 40s or 50s. Emphysema is a serious lung disease in which damage to the airways makes it hard to breathe.

A small number of people who have AAT deficiency have https://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001301/ and other serious liver diseases. Cirrhosis is a disease in which the liver becomes scarred. This prevents the liver from working right. In people who have AAT deficiency, cirrhosis and other liver diseases usually occur in infancy and early childhood.

A very small number of people who have AAT deficiency have a rare type of skin disease called https://medical-dictionary.thefreedictionary.com/necrotizing+panniculitis. This skin disease can cause painful lumps under or on the surface of the skin. Severe patients with Alpha 1 Antitrypsin Deficiency are listed and waiting for organ transplants.

Augmentation therapy consists of intravenous infusions, usually weekly, of alpha-1 antitrypsin protein purified from healthy plasma donors. The treatments are ongoing lifelong. The goal is to increase the level of alpha-1 protein in the blood and lungs in order to slow or stop the progression of Alpha-1 lung disease. Augmentation therapy cannot restore lost lung function and is not considered a cure. However, this therapy is currently the standard of care for Alphas with COPD/Emphysema. I continue to hope for a cure.

For more information, visit: Alpha 1 Foundation,  https://www.alpha1.org/what-is-alpha1