In the 21st century, public health has yielded major advances in understanding and managing diseases. Sometimes, early diagnosis remains crucial in managing and treating a serious condition. One such rare genetic disorder, alpha-1 antitrypsin deficiency (AATD), has witnessed improvements concerning awareness and considerations during treatment.
AATD is an inherited condition in which levels of protective enzyme inhibitor—alpha 1 antitrypsin get lowered, leading to lung damage and signifying loss of function. The other pathophysiology leads to misfolding of AAT protein (gain-of-function), contributing to increased proteolytic stress in the liver and less AAT. Being ...
