E88.01

Applicable To

• AAT deficiency

Approximate Synonyms

• Alpha 1 antitrypsin deficiency

Clinical Information

• A genetic disorder characterized by decreased alpha-1 antitrypsin activity in the lungs and blood and deposition of alpha-1 antitrypsin protein in the hepatocytes. These abnormalities result from defective production of alpha-1 antitrypsin and lead to the development of emphysema, cirrhosis, and liver failure.

• Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. Alpha-1 antitrypsin aat) is a protein that protects the lungs. The liver usually makes the protein, and releases it into the bloodstream. Because of a gene problem, some people have little or none of it. Not having enough aat puts you at risk of emphysema or liver problems. If you smoke, you increase your risk. Children with aat deficiency can develop liver problems that last their whole lives. Aat deficiency can be treated but not cured. One treatment involves adding to or replacing the missing protein. A lung transplant may be an option if you are seriously ill. Staying away from cigarette smoke is crucial.a blood test can tell if you have the deficiency. If you have it, your family members should also take the blood test.

• Autosomal recessive trait leading to destruction of lung tissue by neutrophil elastase and eventual emphysema; second only to cystic fibrosis as most common lethal genetic disorder among caucasians of northern european ancestry.

• Deficiency of the protease inhibitor alpha 1-antitrypsin that manifests primarily as pulmonary emphysema and liver cirrhosis.

Details

• E88.01 is a billable/specific ICD-10-CM code that can be used to indicate a diagnosis for reimbursement purposes.

• The 2023 edition of ICD-10-CM E88.01 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E88.01 – other international versions of ICD-10 E88.01 may differ.