How Is Alpha-1 Antitrypsin Deficiency Diagnosed?
Alpha-1 antitrypsin (AAT) deficiency usually is diagnosed after you develop a lung or liver disease that’s related to the condition. Because of this, a number of doctors may be involved in the diagnosis of AAT deficiency. These include primary care doctors, pulmonologists (lung specialists), and hepatologists (liver specialists). To check whether the disease you have may be related to AAT deficiency, your doctor will: • Ask about possible risk factors. Risk factors include smoking and exposure to dust, fumes, and other toxic substances. • Ask about your medical history. A common sign of AAT deficiency is if you have a lung or liver disease without any obvious causes or risk factors. Another sign is if you have emphysema at an unusually early age (45 years or younger). • Ask about your family’s medical history. If you have bloodline relatives who have AAT deficiency, you’re more likely to have the condition.
