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.
Chronic Obstructive Pulmonary Disease (COPD) Day
20th November 2019
COPD is a disease that affects a large number of people in the UK. COPD has many possible causes, but one of the lesser known causes is alpha-1 antitrypsin deficiency, or AATD. AATD may affect many Brits, but only some very severely, and can lead to a number of other health issues for sufferers.
Karen O’Hara, Chair of the Alpha-1 UK Support Group, and Andrew Deans, Lead Research Nurse in Edinburgh, were interviewed about COPD and the often undiagnosed link of COPD and AATD.
AATD is a rare, genetic disorder caused by a defective protein produced in the liver. The World Health Organisation (WHO) recommends that all COPD patients should be tested for AATD at least once in their life. However, these recommendations are generally not strictly followed, and AATD is therefore under-diagnosed in most countries, including the UK. Just a small percentage of patients will have severe AATD, but an early and correct diagnosis is critical to enable targeted interventions to prevent disease progression. It is common for people with AATD to get COPD at a much younger age than people with COPD due to other causes.
Please click the link below to hear the full interview with Karen and Andrew.