Alpha-1 antitrysin Deficiency

In : Alpha-1 antitrysin Deficiency, Posted by on Sep.09, 2015

IMG_1864You are probably saying to yourself, “what the hell is Alpha-1 antitrypsin Deficiency?” Just when we thought we had received all the diagnosis we could manage for a lifetime, a new one came along. During my long absence from posting, John had a heart attack and just to make it more exciting, he had it during dialysis at home. More on that another time. He also broke a hip and had a titanium rod implanted, and another time fractured his pelvis. No he hasn’t taken up skiing, he just went through a period of falling. The worst time for both of us was when he went to the hospital with MRSA. During a 3 month stay, MRSA spread to his spine collapsing L4 and L5. No surgery though – miraculously it fused together on it’s own. And he survived MRSA against all odds.

Earlier this year I took him to the ER again with symptoms similar to the heart attack. It turned out to be a low blood sugar that I was not able to get back up to normal. While he was there, some of his liver test numbers showed signs of cirrhosis. After more tests, more doctors and about 4 months later, the Alpha-1 antitrypson Deficiency diagnosis was made. We were very pleased to learn that there is a treatment for this, but it just maintains his condition. He will receive infusions of the hereditary disorder once a week for the rest of his life. He already has stage 3 liver disease, COPD, and pancreatitis from this condition. Who knew?! You might be wondering how he feels? He feels fine. He always feels fine. He’s got the constitution of a battleship that’s been to war. He’s a survivor. In the photo he’s clotting the site where I just pulled a #15 needle 1″ long with one more needle to go. Yet he’s smiling while the Count looks on, most likely looking for blood .

Below is a brief, but a little technical description of A1AD:

Alpha-1 antitrypsin deficiency (A1AD) is a hereditary disorder characterized by low levels of a protein called alpha-1 antitrypsin (A1AT) which is found in the blood. This deficiency may predispose an individual to several illnesses and most commonly manifests as chronic obstructive pulmonary disease (including bronchiectasis) and liver disease (especially cirrhosis and hepatoma), or more rarely, as a skin condition called panniculitis. A1AD is also more frequent among individuals with Wegener’s granulomatosis. A deficiency of A1AT allows substances that break down proteins (so-called proteolytic enzymes) to attack various tissues of the body. The attack results in destructive changes in the lungs (emphysema) and may also affect the liver and skin. Alpha-1 antitrypsin is ordinarily released by specialized, granules within a type of white blood cells (called neutrophils or polymorphonuclear leukocytes) in response to infection or inflammation. Deficiency of alpha-1 antitrypsin results in unbalanced (i.e., relatively unopposed) rapid breakdown of proteins (protease activity), especially in the supporting elastic structures of the lungs. Over years, this destruction leads to progressive emphysema and is accelerated by smoking, some occupational exposures, and likely by other genetic modifiers of this risk which remain incompletely understood.

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