https://padlet.com/4331911/799h34hma1ft Lucca Gandolfo en-us 2020-02-11 18:47:21 UTC 2023-03-21 17:11:13 UTC hello@padlet.com 4331911 https://padlet.com/4331911/799h34hma1ft/wish/443911080 Alpha 1 Antitrypsin Deficiency is and inherited genetic disease that causes an increased risk of having chronic obstructive pulmonary disease, liver disease, skin problems, and blood vessel inflammation.]]> 2020-02-11 18:51:39 UTC https://padlet.com/4331911/799h34hma1ft/wish/443911080 4331911 https://padlet.com/4331911/799h34hma1ft/wish/443915851 The genetic cause of Alpha 1 Antitrypsin Deficiency (AAT) is changes in the SERPINA 1 gene. AAT is inherited in a co-dominant manner and is also caused by the little to no working of the AAT gene and low levels of it. These low levels are what cause lung damage and extremely high levels cause liver damage. ]]> 2020-02-11 18:57:17 UTC https://padlet.com/4331911/799h34hma1ft/wish/443915851 4331911 https://padlet.com/4331911/799h34hma1ft/wish/445150100 The symptoms of AAT can vary from little to no symptoms to liver failure. Some of the common symptoms include shortness of breath, wheezing, repeated pulmonary and hepatic infection, yellow skin, fatigue, rapid heartbeat when standing, liver failure, rapid weight loss, and lung disease.]]> 2020-02-13 17:25:26 UTC https://padlet.com/4331911/799h34hma1ft/wish/445150100 4331911 https://padlet.com/4331911/799h34hma1ft/wish/445153356 Doctors can usually make a diagnosis when they see reoccurring pulmonary issues with adults and when children have more hepatic and skin problems. Can be suspected when finding low levels of AAT in ones blood through genetic testing. Can be suspected through symptoms for liver and lung disease at any age. The specialists involved include pulmonologists and hepatologist.]]> 2020-02-13 17:30:16 UTC https://padlet.com/4331911/799h34hma1ft/wish/445153356 4331911 https://padlet.com/4331911/799h34hma1ft/wish/445171002 Some treatments for AAT are standard medical therapies and supportive care and augmentation therapy which is aimed to increase the blood level of AAT by adding purified human AAT directly into the patients blood through IV infusion. This therapy can positively affect lung and skin problems but not liver.]]> 2020-02-13 17:54:12 UTC https://padlet.com/4331911/799h34hma1ft/wish/445171002 4331911 https://padlet.com/4331911/799h34hma1ft/wish/445173857 As of this moment there is no cure for AAT only treatments to increase AAT levels in blood such as augmentation therapy.]]> 2020-02-13 17:58:12 UTC https://padlet.com/4331911/799h34hma1ft/wish/445173857 4331911 https://padlet.com/4331911/799h34hma1ft/wish/445175135 For someone that has AAT they would have to go multiple treatments to increase their AAT levels, they would also be constantly getting poked with IV's and other needles, they would sometimes have to be in the hospital for days or weeks, and in some cases they would have to be put on life support because of lung and liver failure which is a common cause of AAT deficiency.]]> 2020-02-13 18:00:08 UTC https://padlet.com/4331911/799h34hma1ft/wish/445175135 4331911 https://padlet.com/4331911/799h34hma1ft/wish/445180072 People with AAT deficiency usually see signs and symptoms of lung disease between ages 20 and 50 and about 10% of infants with AAT develop liver disease which causes yellowing of the skin and whitening of the eyes.]]> 2020-02-13 18:07:00 UTC https://padlet.com/4331911/799h34hma1ft/wish/445180072