Alpha-1 Antitrypsin Deficiency: How Can Diagnostic Rates be Improved?

According to an article published in the Orphanet Journal of Rare Diseases, a workshop held on June 23, 2019 in Orlando, FL focused on a difficult subject: improving detection and diagnosis for alpha-1 antitrypsin deficiency, a rare genetic disorder. The workshop, organized by the Alpha-1 Foundation, included perspectives from patients, the drug industry, and researchers. Several potential methods for improving diagnostic rates were discussed as possible solutions, as currently it is estimated that as many as 90 percent of patients in the US live undiagnosed.

About Alpha-1 Antitrypsin Deficiency (A1AD)

Alpha-1 antitrypsin deficiency (A1AD) is a genetic disorder that can result in disease of the liver or lungs. Typically, problems with the lungs can begin at anywhere from 20 to 50 years old. Symptoms include shortness of breath, wheezing, increased risk of lung infections, and COPD. Not all patients experience liver problems, but in some, cirrhosis and liver failure may occur. A genetic mutation is responsible for the deficiency. Smoking can greatly worsen symptoms and outcomes, and even shorten life expectancy in people with the disorder. Most treatments are meant to improve symptoms and lung function; transplantation may be an option in those with severe disease. In some patients, augmentation of the deficient A1AT protein may be viable and can stop the progression of symptoms and lung damage. People with liver complications are unfortunately not suitable candidates for this treatment. However, long term effects of this treatment have not been studied. To learn more about alpha-1 antitrypsin deficiency, click here.

Challenges for Detection

There are a few reasons while diagnosis for this disorder remains so difficult. Probably the biggest factor is that the condition does not have any distinctive signs or symptoms that can be used to distinguish it easily. Therefore, many patients are diagnosed with liver disease or chronic obstructive pulmonary disease (COPD). Another factor is lack of awareness in the medical field as well as some skepticism among some health professionals in regards to the specific treatments for the illness. Therefore, testing is not conducted as frequently as it should.

However, identifying patients is critical precisely because there are specific therapies available. Ultimately, the group concluded that there are several groups of people that should strongly consider being tested for alpha-1 antitrypsin deficiency:

  1. COPD patients: While the majority of COPD patients probably do not have this condition, COPD patients should undergo testing as this will improve their options for treatment and overall outcomes. There are likely a significant number of COPD patients with undiagnosed alpha-1.
  2. Chronic liver disease patients: As this condition presents with liver disease symptoms in some patients, this is another group that should strongly consider testing, particularly if the cause of the liver disease is unknown.
  3. Family members of known patients: Because of the genetic nature of alpha-1 antitrypsin deficiency, family members may carry the same causal mutation as a known patient and should be tested even if symptoms are not present.

Potential methods for testing discussed in the workshop include direct-to-consumer testing, newborn screening, and data mining from electronic medical records.


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