The World Health Organization (WHO) recommends that all adults should be tested for Alpha1 Antitrypsin Deficiency if they present with the following problems:
- Family history of AAT Deficiency
- Chronic liver disease
Other conditions not specifically recommended by WHO, but possibly indicating increased risk for AAT Deficiency include:
- Unexplained vasculitis, particularly of Wegener’s granulomatosis type
- Hepatocellular carcinoma
- Any evidence of unexplained liver disease
It is important to understand that if these conditions are seen in non-smokers of any age, or if COPD occurs at an early age (age 30 to 55) in smokers, the likelihood of AAT Deficiency is increased.
A physical examination or a reading of a patient’s medical history can only identify a potential Alpha1 Antitrypsin Deficient person. Diagnosis is made by a simple blood test.
On average, it takes seven years and three doctors for an Alpha1 patient to get an accurate diagnosis.