Alpha-1 Antitrypsin Deficiency also known as Alpha-1, A1AD or AATD is an inherited, genetic condition that is passed on from generation to generation. As the name suggests it is a deficiency of alpha-1 antitrypsin (AAT) in the bloodstream. AAT is an enzyme produced in the liver to help protect the tissues of the body during infections. The low level of AAT in the blood occurs because the AAT is abnormal and cannot be released from the liver at the normal rate. This leads to a build up of abnormal AAT in the liver that can cause liver disease and a decrease of AAT in the blood that can lead to lung disease.
Mark Pawsey MP raises awareness of rare illness in Parliament
Mark led the first ever parliamentary debate on Alpha-1 Antitrypsin Deficiency on 31st October 2018
Rugby MP Mark Pawsey last week led the first ever parliamentary debate on alpha-1 antitrypsin deficiency, a rare hereditary illness which affects the lungs and breathing of those with this condition.
Alpha-1 antitrypsin deficiency is caused by a genetic abnormality which means that the protein alpha-1 antitrypsin, normally released into the blood to protect from inflammation, is instead trapped in the liver. This can not only cause significant damage to a patient’s liver but also leads the lungs becoming vulnerable to pollutants in the air. In particular, those with alpha-1 are particularly susceptible and sensitive to cigarette smoke.
Symptoms of alpha-1 are often mistaken for asthma or chronic obstructive pulmonary disease, leading to the incorrect treatment which can lead to a patient’s health deteriorating. Because of this, Mark has become a supporter of the Alpha-1 UK Support Group, which seeks to raise greater awareness of the condition and a delegation of alpha-1 patients visited Parliament to hear the debate.
Speaking after the debate, Mark said:
“Alpha-1 antitrypsin deficiency was first brought to my attention in 2012 by Sarah Parrin, when she attended my constituency advice surgery with her son, Stephen Leadbetter. Despite having presented symptoms of alpha-1 over eight years before, he had only just been formally diagnosed with the condition. That delay in diagnosis had real consequences for his health as he was growing up, and demonstrates the scale of the challenge facing patients with alpha-1.”Read the full story here