A recent review, carried out by researchers from Spain and published in the Orphanet Journal of Rare Diseases (OJRD), discusses the rare condition alpha-1 antitrypsin deficiency. The original study, which this article is based on, can be found here at OJRD.
About Alpha-1 Antitrypsin Deficiency (A1AD)
A1AD is an inherited, genetic condition that can affect the lungs and liver. People who have A1AD have reduced levels of the enzyme alpha-1 antitrypsin (ATT). As a result, they tend to be more vulnerable to the effects of toxic chemicals, such as smoke or dust, which increases their risk of developing lung disease. Other parts of the body can also be affected, including the liver and skin.
The Purpose of the Study
The researchers carried out the review in order to bring together what is currently known about A1AD and to work out where scientists and doctors disagree about the condition, and where further research needs to be done.
The Researcher’s Conclusions
One of the main findings of the review was how under-diagnosed A1AD is. Although it is known to be a condition that frequently remains undiagnosed in patients, the researchers estimated that over 90% of European people affected by A1AD are not diagnosed or ‘underdiagnosed’. In total, the review claims that over 120,000 people in Europe have the condition.
Following on from this first point, the reviewers wrote that new methods of identifying the condition early on need to be put in place to reduce the morbidity and mortality of patients with A1AD. Patient outcomes would also be likely to improve if new biomarkers were implemented that could be used to predict the prognosis of patients.
Thirdly, the paper discusses how augmentation therapy has been shown to slow down the progression of emphysema. However, the authors write that certain countries “reject registration and reimbursement” for augmentation therapy, based on “the lack of larger randomised, placebo-controlled trials.”
Finally, the paper highlights the potential of experimental treatments such as gene therapies and pluripotent stem cells, which are being developed as possible alternatives or complementary treatments for augmentation therapy.
To find out more about the review, click here to read it in full.