MISSION STATEMENT

" To raise the profile of A1AD amongst the medical profession and to assist in the early identification / diagnosis of individuals with the disorder."

Alpha 1 Antitrypsin Alliance is a newly founded group with just one specific aim, to raise awareness and understanding of Alpha 1 Antitrypsin Deficiency within the medical profession and the public in the UK.

As most people know there is no cure for A1AD and at present no specific treatment. Early diagnosis and education for the patient on having a healthy lifestyle and the need for swift medical attention at the first signs of lung infection are vitally important.

At present it is estimated that only 5% of people with A1AD in the UK have been found. Many will be asymptomatic and luckily will go through their life never knowing thay have the disorder. Others are mis-diagnosed as having asthma , COPD or some other lung related disorder.

Individuals with A1AD can have repiratory symptoms so similar to asthma that the two are in the early stages indistinguishable and that is why the WHO in their 1998 report advised that all patients with asthma, COPD and emphysema shouldnow be tested for A1AD.

WHAT IS ALPHA 1 ANTITRYPSIN DEFICIENCY -THE FACTS

Alpha 1-antitrypsin deficiency is a complex genetic disorder that in the early stages is very difficult to diagnose. There are many reasons for this, some of which are as follows. Not everyone with this disorder will be affected, many people with A1AD will never know they have it.

Individuals with A1AD lung disease present with respiratory symptoms so similar to asthma that in the early stages the two are indistinguishable, but unlike asthma the effects in individuals with A1AD are irreversible and progressive damage will occur to the lung tissue. Most people with A1AD are misdiagnosed as having asthma, COAD or bronchitis and at present it can take an average of seven years for a correct diagnosis to be made, by which time the patient is usually severely incapacitated and in many cases their lungs are so damaged that a lung transplant is the only option left.

The World Health Organisation recommend that people with asthma, COAD and emphysema are tested for A1AD, if this advice was acted upon, people with A1AD would be diagnosed more quickly and could be helped to stay healthier for longer. It is important to note that people with genetic emphysema develop damage to both upper and lower areas of the lung, which makes lung volume reduction surgery unlikely of being any help to these individuals. It is believed that lung scans rather than X-rays are the best way of assessing damage to the lungs of people with A1AD.

A simple blood test is all that is needed to diagnose A1AD, the initial test costs about 40p, free test kits are available from ADAPT which is based at the Queen Elizabeth Hospital, Birmingham.

Although there is no cure or specific treatment for A1AD at present it is known that if affected individuals are found early enough and educated about leading a healthy lifestyle e.g. refraining from smoking, working in a dust and pollutant free environment, having a healthy diet, and doing regular breathing exercises all these things will go a long way in protecting their lungs from damage. Antibiotic treatment at the first sign of a lung infection is vitally important in the prevention of further damage to the lung tissue. Neonatal liver disease due to A1AD is probably the easiest to diagnose as any new born baby with prolonged jaundice should automatically be tested for this disorder. A1AD is the most common metabolic cause of babies and children requiring liver transplants.

Paediatric A1AD liver disease and A1AD lung related disease are by and large the two easiest types to diagnose, the first because it presents so early and the second because it causes early onset emphysema which can happen in the thirtieth or fortieth decade of life and is so 'visual'. Others are much less obvious and harder to detect. Adult liver disease is often misdiagnosed and put down to alcoholic cirrhosis even when the patient has been a moderate or non-drinker. It is known that some insult may be required to trigger the onset of damage and a previous undiagnosed liver infection would be enough to act as the trigger.

This would explain why some PiMZ individuals are affected with liver disease although more research is needed to fully explain why some PiMZ individuals are affected and why some PiZZ individuals have no symptoms at all.

We have touched on the most well known and common effects of A1AD but much less is known and understood about pancreatitis, stomach and intestinal problems that can affect people with this disorder. Pancreatic elastase can cause problems in these areas of the body to people with lower than normal levels of AAT and this would explain why both PiZZ individuals and carriers (PiMZ) develop pancreatitis, stomach, intestinal and bowel problems.

WHO SHOULD BE TESTED?

People with A family history of A1AD, Asthma, COAD, emphysema. Liver disease Kidney disease Rheumatoid arthritis Pancreatitis and also individuals with otherwise unknown causes of intestinal, stomach or bowel disorders.