Many patients with alpha-1-antitrypsin deficiency (AATD) experience long delays between their first symptom and initial diagnosis of AATD and require many encounters with healthcare providers before the diagnosis is made. Estimates suggest that fewer than 10 % of subjects with severe AATD are recognised clinically.

What is the meaning of “recognized clinically”? Does it mean “based on clinical symptoms only, without genetic testing or specialized testing of other kind”?

Or does it merely mean “recognized by doctors”, with practically no additional sense carried by the word “clinically”?

I found the following definition of "clinical diagnosis" in Wiktionary:

Clinical diagnosis: the estimated identification of the disease underlying a patient's complaints based merely on signs, symptoms and medical history of the patient rather than on laboratory examination or medical imaging.

1 Answer 1


"Clinically" in this context means "by doctors in the clinic" in their normal practice.

It excludes research contexts, and implies "real-world" circumstances.

There is no implication here of the "clinical diagnosis" definition added to the question. Lab results/imaging would still be clinical assuming they were ordered for "real world" diagnosis purposes rather than research purposes.

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