Thursday, November 03, 2005

Under diagnosis of alpha 1 antitrypsin deficiency

A survey in the September issue of Chest reminds us that we are under diagnosing alpha 1antitrypsin deficiency (AATD). The study of 1020 patients with AATD revealed an average of 8.3 years from symptom onset to diagnosis. 20% of patients went through four or more physicians before being diagnosed. Timeliness of diagnosis did not improve between 1968 and 2003.

AATD is easy to diagnose, so why are we doing so poorly? Clinicians under appreciate the fact that AATD can be present in any patient with COPD. It is not, as popularly believed, confined to the rare non-smoker with emphysema or to those patients with primarily lower lobe disease. Moreover, it may not be widely known that current guidelines cast a broad net for screening patients for AATD. In reviewing this topic I was surprised to learn that the World Health Organization, the American Thoracic Society and the European Respiratory Society recommend that ALL patients with COPD be tested for AATD.

The joint statement of the American Thoracic Society/European Respiratory Society was published in the American Journal of Respiratory and Critical Care Medicine in 2003. Here is a partial list of patients for whom screening was definitely recommended (type A recommendation):

1) Symptomatic patients with a diagnosis of emphysema or COPD
2) Patients with asthma whose pulmonary function does not completely normalize after aggressive treatment
3) Individuals with unexplained liver disease
4) Asymptomatic patients with persistent obstruction on pulmonary function tests with known risk factors
5) Adults with necrotizing panniculitis


Jill Gberg said...

Dr. RW,
I really appreciate you bringing this issue to your blog. My mother is an Alpha1 patient (ZZ) who was not diagnosed until her forties; having not known of this deficiency, she had smoked up to three packs of cigarettes a day for over 20 years before diagnosis.
Looking back, we believe her father (who passed in the mid-1980's of liver problems) may have been a ZZ also(obviously he was at least an MZ). My mother recieves an infusion of prolastin every 2 weeks to prevent any further damage, but she stills suffers with the damage that was already done.
I have noticed in the last 10 years more medical professionals have become aware of least have heard of it. I try to explain it to every doctor or nurse I talk to - we have to spread the word.
Thank you again for bringing this topic up!

R. W. Donnell said...

Thanks for your comment. I hope to have a follow up post or two on Alpha 1 in the near future.

Anonymous said...

Dear Dr. RW,

A1AT deficiency disease has traditionally been associated with severe lung and liver disease. But there is more to be known about A1AT deficiency than that alone ! A1AT deficiency syndromes have many ways and forms in which they present themselves. Post-traumatic granulomatous panniculitis and obstructive jaundice due to hereditary alpha-1-antitrypsin deficiency may already occur with A1AT levels between 75 mg/dl and 150 mg/dl. Normal A1AT levels are most often considered to be between 150 mg/dl and 300 mg/dl, but A1AT levels may preferably even be between 200 mg/dl and 400 mg/dl. Rare A1AT levels between 30 mg/dl and 80 mg/dl are associated with severe lung and liver disease. But severe lung and liver disease, and neurological disorders seem to occur already with A1AT levels between 75 mg/dl and 150 mg/dl. A1AT deficiency disease may be considered as a systemic disorder. Also Wilson's disease is a systemic disease. But Wilson's disease really is a rare disease, whereas A1AT deficiency syndromes don't seem to be really that rare after all, apart from the less frequent homozygous ZZ genotype, of course. But there is more to be learnt from A1AT deficiency syndromes than only the rare homozygous ZZ genotype.

Best regards,

S. F.

srinivas said...

Point No 4 is not clear. Could you elaborate on this. Thank you