Downloads
Download AATD diagnosis flow chart (pdf)
A new index case should be considered in patients who present with evidence of COPD appearing in the 4th decade or less. First degree relatives of patients found to have AATD, or to be a carrier for AATD, should be screened, and genetic counselling offered.
To make a diagnosis, the GP must obtain samples for two tests:
- Serum AAT level (clotted blood sample to Biochemistry)
- Genotype – molecular assay for the M, S and Z variants (blood in an EDTA tube or a buccal swab provided by Genetics, sent to Molecular Laboratory, Northern Genetics Service).
Both tests need to be done; otherwise some individuals will be missed.
Monitoring and treatment
Respirator
It is vital not to smoke if you have a diagnosis of AATD, since smoking greatly increases the damage to the lungs and the possibility of respiratory failure. There is some evidence to suggest that MS and MZ carriers may be at some increased risk of lung damage if they smoke compared to the normal population.
The possibility of AATD should be considered in patients who are breathless and are also smokers, yet whose FEV1 seems well preserved (>80% of predicted). They can have significant emphysema which will only be shown by carbon monoxide diffusing capacity testing. Referral to the Respiratory Service should be considered for these patients.
If COPD develops, patients will need the standard treatment for COPD with inhalers and antibiotics as required.
Liver
There is no national recognised model for monitoring and treatment. There is currently no cure for the liver disease, and treatment is largely supportive. Liver transplantation may be considered.
Within the Northern Region, patients are monitored for signs of portal hypertension and liver failure, and treated symptomatically. Monitoring with 3-6 monthly LFT and examination is currently recommended.
