Alpha 1-Antitrypsin Deficiency

What is Alpha 1-Antitrypsin Deficiency

Alpha 1-antitrypsin deficiency is a rare genetic disorder in which the body’s ability to produce a protein called alpha-1 antitrypsin (AAT) is reduced, resulting in damage to the lungs and other organs like the liver and the skin.

When this condition affects the lungs, it causes emphysema, a part of COPD (chronic obstructive pulmonary disease) along with chronic bronchitis.

It is thought that one in 2,500 people in Australia have the genetic condition though most remain healthy, so few have been diagnosed.

Alpha 1-antitrypsin deficiency symptoms

The symptoms vary depending on the organ that is affected.

Lungs

• Shortness of breath, excessive cough with phlegm/sputum production, wheezing. These symptoms can persist and lead to a decrease in exercise capacity and a persistent low energy state or tiredness. Symptoms may occur chronically or with acute infections of the respiratory tract. Occasionally a person with AAT deficiency may have chest pain that increases when breathing in. This can be due to a life-threating collapsed lung.

Liver

• Tiredness, loss of appetite, weight loss, swelling of the feet or belly, yellowish discoloration of the skin (jaundice) or white part of the eyes, vomiting of blood, or blood in stools.

Skin

• Warm, red, painful lumps under the skin.

Alpha 1-antitrypsin deficiency causes

Everyone has two copies of the gene that makes the liver produce AAT. You get one gene from each parent.

If you receive a normal AAT gene from each parent, all will be well.

If you get one faulty gene and one normal one, you will be a carrier for AAT and you might produce less AAT than normal. Most people will get by, but some will develop lung problems if they smoke.

If you get a faulty gene from each parent, you will almost certainly develop AAT.

Alpha 1-antitrypsin deficiency treatment

AAT is often misdiagnosed, but a blood test can confirm the condition. If you have a condition caused by AAT, such as COPD, the focus is on usual treatment for that condition.

Alpha-1 replacement or augmentation therapy has been approved for use in Australia, but the cost is not covered by Medicare.

Alpha 1-antitrypsin deficiency research

AAT research helps us understand how the disease is caused, how it develops and how it can be best treated.

Our Clinical Trials Unit undertakes AAT studies to explore new ways to prevent the disease and improve the quality of everyday life for those diagnosed with it.

Other information can be found at the Lung Foundation Australia and Healthdirect Australia.

I was only 32 when I found out I had a genetic form of emphysema. The news was devastating – I had two young teenagers to look after, I couldn’t afford to be sick! Ten years ago, while travelling back from Adelaide, I became very sick on the plane – it all happened so quickly. It felt like I really needed to burp, but couldn’t. The pain was excruciating. When the plane landed, my partner rushed me to St John of God Murdoch Hospital, where I was taken into emergency. This is when I had a visit from Dr Peter Bremner, who told me I was very sick. I was diagnosed with alpha-1 antitrypsin deficiency (alpha-1), an inherited genetic condition where a person has low blood levels of a protein known as the alpha-1 antitrypsin protease. Alpha-1 causes an increased risk of chronic obstructive pulmonary disease (COPD) in the form of emphysema. My lung capacity is only a third of someone who is healthy, so each day is determined by my health. Even the weather can affect how I feel and what I can do, especially during the fire season. I’m also very susceptible to respiratory infections. Being active, even just walking up a slight slope or mucking around with my kids became a thing of the past. I often have to stand at the kitchen bench for 15 minutes at a time before I can get my breath back. I now need to allow extra time to do everything. That is why I want to advocate for medical research. Finding a cure for alpha-1 is incredibly important. Even if it’s not possible for me, hopefully it will for future generations. There only needs to be one ‘Aha!’ moment, that could change someone’s life. Thankfully, my Specialist suggested I take part in a new study with the Institute’s Clinical Trials Unit. I have been on the trial for 26 weeks now and some days I feel great – really great! The trial is a result of decades of research and I am hoping it will change my life. Life is a journey and since my diagnosis, I have wanted to share special moments with people. I recently completed a Certificate IV in Celebrancy and have my first wedding in February with 8 more booked throughout 2017. Weddings are such a joyful, happy time, and are one of the most important days in someone’s life. I’m looking forward to being a part of that.

For more information on clinical trials click here.