Ask the Pharmacist: Prevalence of Alpha-1

Nov 14, 2017
As we recognized alpha-1 awareness month, Accredo’s immune disorders care team helps patients manage this complex condition, which can develop in people with varying health histories.
Rph Article

Michael is a 38-year-old male. He has a history of emphysema, chronic cough, wheezing and recurrent respiratory infections. While he is a previous smoker, Michael has been a non-smoker for about one month. He is employed as a construction worker.

Anna is a 60–year-old former teacher who has never smoked but developed Chronic Obstructive Pulmonary Disease (COPD). Anna recalls that her mother also had respiratory issues and her father had cirrhosis. Although these patients come from different backgrounds and have different smoking histories, both patients have been diagnosed as having Alpha-1 antitrypsin deficiency (Alpha-1).

Alpha-1 antitrypsin deficiency is a hereditary condition but is not always diagnosed early in life. People who have Alpha-1 have received two abnormal alpha-1 antitrypsin genes, one from their mother and one from their father. This condition may result in serious lung disease in adults and/or liver disease in infants, children and adults. Alpha-1 occurs when there is a severe lack of a protein in the blood called alpha-1 antitrypsin (AAT), which is mainly produced by the liver. The main function of AAT is to protect the lungs from inflammation caused by infections and inhaled irritants such as tobacco smoke. COPDor emphysema develops in these patients after years of damage caused by inflammation. 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 buildup of abnormal AAT in the liver and can cause liver disease.

Alpha-1 Prevalence

Alpha-1 has been identified in nearly all populations and ethnic groups. It is estimated that about 1 in every 2,500 Americans have Alpha-1. People with Alpha-1 may remain healthy throughout their lives. Early diagnosis and avoiding risk factors, such as cigarette smoking, can help prevent Alpha-1 from causing lung disease. The average age of onset in adults is 30-40 years in smokers and 50-60 years in non-smokers. An estimated 19 million people in the United Stated have one normal and one defective Alpha-1 gene. People with one normal and one defective gene are called “carriers.” Carriers may pass the defective gene on to their children.

Alpha-1 is often first diagnosed as asthma or smoking-related COPD, which includes emphysema and chronic bronchitis. Alpha-1 is the most common genetic risk factor for COPD. About 3%of all people diagnosed with COPD may have undetected Alpha-1. Guidelines from both the World Health Organization (WHO) and American Thoracic Society (ATS) recommend testing all people with COPD for Alpha-1, regardless of their age or smoking history.

The most common signs of lung disease in people with Alpha-1 are:

  • Shortness of breath
  • Wheezing
  • Chronic cough
  • Increased sputum
  • Recurrent respiratory infections (chest colds, pneumonia)
  • Low tolerance for exercise

The most common signs of liver disease in people with Alpha-1 are:

  • Unexplained liver disease or elevated liver enzymes
  • Eyes and skin turning yellow (jaundice)
  • Swelling of abdomen (ascites) or legs
  • Vomiting blood or passing blood in the stool

Specialized Treatment for Alpha-1

The specific therapy for the treatment of Alpha-1-related lung disease is augmentation therapy (replacement therapy). Augmentation therapy is the use of alpha-1 antitrypsin protein (AAT) from the plasma of healthy human donors to increase the alpha-1 levels circulating in the blood and lungs of those diagnosed with Alpha-1. The goal of augmentation therapy is to increase the level of alpha-1 protein in the lungs to slow or stop the progression of lung destruction. Alpha-1 antitrypsin protects the lungs from destructive effects of neutrophil elastase, an enzyme released by the body’s white blood cells in response to inflammation or infection. The therapy is administered by weekly intravenous infusions. The therapy cannot restore lost lung function and is not considered a cure – the disease considered ongoing and lifelong. There is some evidence that augmentation therapy can reduce the frequency and severity of lung disease flare ups.

Accredo nurses have extensive infusion experience and in-depth knowledge of Alpha-1. They provide help patients receive their intravenous augmentation therapy in the home and even teach patients to self–infuse.

Author Bio

Melissa Vargo
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