Carries one defective gene (heterozygote), or other genetic type paired with one M gene
Mild AAT protein deficiency
Rare development of Alpha-1-related disease
Carries two defective genes (homozygote)
Moderate (SZ) to severe (ZZ) AAT protein deficiency
Possible development of Alpha-1-related disease
Most Common Signs and Symptoms
Shortness of breath, wheezing, chronic cough
Chronic bronchitis, reccurrent pneumonia
COPD, emphysema, bronchiectasies
Asthma, sinus infections
Jaundice (yellowing of the eyes and skin)
Ascite (swelling of the abdomen)
Cirrhosis, gastrointestinal bleeding, liver cancer
Necrotizing panniculitis (red skin nodules and painful skin ulcers)
Indications for Diagnostic Testing
Diagnostic testing should be considered in patients with :
Alpha-1 can be detected through the following blood tests :
At present, there is no cure available for Alpha-1, but there are treatments and lifestyle options that can slow the progression and improve the condition of Alpha-1-associated illnesses :
Main Expert Centers in Belgium
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