Alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin deficiency (AATD) is an inherited
disorder that causes lung and liver diseases. The prevalence is 25 in 100,000
(0.025%) in general population. Asia has relatively less incidence of AATD
compared to Europe or North American population.
Affected people have little or no alpha-1 antitrypsin (AAT)
protein in their blood. This condition is a result of SERPINA1 gene mutation,
resulting in AAT deficiency. Hence the control of enzyme elastase (a biocatalyst
that breaks down protein elastin) by AAT is compromised. Uncontrolled neutriphil
elastase activity and resulting increased elastin degradation destroys
the elastic architecture of alveoli (gas exchange pockets in lungs) and
can lead to emphysema which could be accelerated by smoking. The severity of asthma
increases in persons with ATTD. Less commonly ATTD cause liver disease and
rarely skin disease, penniculitis.
ATTD cases
are sometimes misdiagnosed as a form of Chronic Obstructive Pulmonary Disease. AATD
cannot be cured but can be treated. Treatment involves replacement therapy in
which AAT is injected in the affected person once a week, but severe
cases may require a lung transplant.
Contributor: Duraiswamy
Navaneetham PhD.
Reviewer: To be reviewed.
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