According to a recent article, a cyclist who was closely affected by alpha-1 antitrypsin deficiency (A1AD), is biking across Australia with his good friend to raise awareness and money for the disease.

Alpha-1 Antitrypsin Deficiency (A1AD)

Alpha-1 antitrypsin deficiency (A1AD) is an inherited condition characterized by low blood levels of the protein alpha-1 antitrypsin (A1AT). The deficiency of this protein can lead to lung and liver disease as well as skin problems. A1AD is estimated to be found in 1 in 1,500-3,000 individuals of European ancestry. This condition is less prevalent in Asian and Black populations.

Symptoms:

The onset and severity of the symptoms of A1AD vary by the individual and areas affected. This condition can cause disease and damage in the lungs, liver, and skin. The symptoms of A1AD lung disease usually appear between the ages of 20 and 50. They include:

• Shortness of breath
• Wheezing
• Activity intolerance and fatigue
• Repeated respiratory infections
• Unintentional weight loss
• Rapid heart rate upon standing
• Development of the advanced lung disease known as Emphysema.
  • This advanced disease leads to difficulty breathing, a harsh/hacking cough, and barrel-shaped chest.

Approximately 10 percent of all infants and 15 percent of all adults with A1AD develop liver disease. These symptoms include:

• Swollen/distended abdomen
• Yellowing of skin and eyes (jaundice)
• Elevated liver enzymes
• Dark urine
• Swollen hands and feet
• Chronic itching
• Development of cirrhosis
• Increased risk of liver cancer

A rare symptom of A1AD is the skin condition known as panniculitis. Symptoms of this include:

• Hard, painful lumps under the skin
• Skin lesions

Cause:

A1AD is caused by an inherited mutation of a gene known as SERPINA 1. This gene is responsible for the proper production of the protein alpha-1 antitrypsin. This protein protects the body from an enzyme known as neutrophil elastase. This enzyme is released by white blood cells to fight infection. Without enough A1AT, this enzyme can attack normal body tissues such as the lungs. Abnormal A1AT protein becomes trapped in the liver leading to liver damage.

Raising Awareness

Mark Lloyd, whose father was diagnosed with the disease, will ride from Sydney to Melbourne during the month of March. His goal is to not only raise awareness for this debilitating disease, but also to raise money for the Alpha-1 charity which supports the families of patients diagnosed with A1AD.

Research has proven that one in nine Australians have genes that are affected by A1AD, and yet there is still very little awareness about it. This is partly due to the fact that some patients with A1AD can go through their whole life with rarely any symptoms, while others can be devastatingly affected for the rest of their life.

Mark Lloyd’s Crusade

Llyod, who watched his father struggle with the effects of the disease for ten years, hopes to change this lack of awareness. His 1,200-kilometer course is estimated to take him about two weeks to complete. However, as a devoted cyclist, it should not be a problem for him. At the end of his journey, Llyod is hoping to have raised $10,000 to go towards the Alpha-1 charity.

Mark Llyod’s journey begins on March 12 starting in Sydney. If you are interested in donating or learning more about his cause, click here.