Closing the AATD Diagnostic Gap, With Sarah Tomashefski, MSN

Alpha-1 antitrypsin deficiency (AATD) remains 1 of pulmonary medicine's most persistently underdiagnosed genetic conditions.1 More than 90% of individuals with severe disease go undiagnosed, and diagnostic delays average 8 to 10 years from first symptoms to confirmed testing.1

Much of the gap traces back to a lingering assumption: AATD only affects young smokers with basilar-predominant emphysema, when in practice patients present across a far broader clinical spectrum and are frequently misclassified as having asthma or chronic obstructive pulmonary disease (COPD).1 Guidelines call for measuring AAT levels at least once in every adult with COPD or refractory asthma, regardless of age or smoking history.1

“Patients with unexplained obstructive lung disease, or really any obstructive lung disease at all, should be checked for alpha-1, and I don't think that's happening consistently,” said Sarah Tomashefski, MSN, AGNP-C, Lead Outpatient Pulmonary Advanced Practice Provider at Prisma Health in Greenville, South Carolina, and Clinical Assistant Professor in the School of Health Research at Clemson University.

Pulmonary advanced practice providers, who often see follow-up pulmonary patients and manage new consults, sit at a critical point for catching missed screening opportunities and ordering the confirmatory genetic test.

Once a patient is diagnosed, the treatment burden shifts: weekly intravenous augmentation infusions can weigh heavily on quality of life, particularly for younger patients balancing work and family obligations around a recurring infusion schedule. Managing this burden alongside routine inhaler and nebulizer adherence, vaccination status, and therapy escalation falls largely to APPs who co-manage these patients long-term.

Tomashefski, president-elect of the Association of Pulmonary Advanced Practice Providers (APAPP), presented on AATD awareness and screening at the group's 2026 National Conference in Las Vegas.2 In the following interview, she discusses where AATD diagnoses go missed, why APPs are positioned to close the gap, how she counsels patients through the burden of long-term augmentation therapy, and what emerging therapies she is watching in the pipeline.

HCPLive: Where does diagnostic delay in AATD typically occur, and where are patients most often missed?

Tomashefski: There are a lot of myths around AATD. People think it's a disease that happens to young smokers with basilar-predominant emphysema, but there are patients all over the spectrum who can have this disease, and it looks very similar to asthma or COPD, so people forget to screen for it. My talk is focused on awareness of the disease, how much more common it is than we realize, and how APPs should be thinking about screening and how to screen. A lot of times these patients get passed around to multiple specialists with vague complaints like shortness of breath or cough, get diagnosed with asthma, and get put on an inhaler without the thorough workup that should be done for someone with obstructive lung disease. Patients with unexplained obstructive lung disease, or really any obstructive lung disease at all, should be checked for alpha-1, and I don't think that's happening consistently. My talk is meant to bring more awareness to APPs, because we are the front line for checking if it's ever been done, and if it hasn't, it's our responsibility to order it.

How are APPs uniquely positioned to screen for AATD?

Tomashefski: APPs across the country who work in pulmonary medicine are key stakeholders in making sure patients get screened. Some offices have APPs seeing new pulmonary consults, so it's the APP's responsibility to work up that patient's pulmonary disease and order this test. In my practice, I see follow-up patients and co-manage with physicians, and since the first pulmonary consult visit involves so many different things to work up and test, it's on us to read through the medical history thoroughly and make sure that if the test got missed for some reason, we encourage the patient to get it done. This is a really important genetic test we should rule out, and APPs can be the ones who order it.

Do you see adherence or treatment-burden issues?

Tomashefski: It is a barrier in general to have to get weekly infusions, especially for younger patients. It really impacts quality of life to go every week for an infusion, similar to hemodialysis, so it can totally change their world. In terms of adherence to other medications, these patients have obstructive lung disease, so making sure they're taking their inhalers and nebulizers as prescribed, and escalating therapy when needed, is a huge role of APPs. Not only do we make sure patients on augmentation therapy stay consistent, but we also manage their underlying lung disease, encourage compliance with inhalers, get their vaccinations, and do everything to protect the lung function they have left.

HCPLive: Are there gene therapies in the AATD pipeline you're excited about, and are patients aware of them?

Tomashefski: I haven't had any patients ask me about it, because most of the time when I tell them about alpha-1 and want to screen them, they have no idea what I'm talking about. It's not only a provider issue, it's a patient issue too, since they don't know this is even a possibility that could have caused their lung disease. In terms of new therapies, I'm not the most expert clinician on the research pipeline, and I like to see things come to light a bit more before I put my weight behind them. But I am excited about some new therapies with less frequent dosing, one coming out hopefully with every-3-week dosing, which seems much more manageable. I'm also excited about options that don't require human plasma, given the burden on the healthcare system to get and use it, and the cost. Anything that can come out with less frequent dosing, low side effects, and reduced cost is exciting, so I'm here for whatever comes next.

Editor's Note: This transcript has been edited for grammar and clarity using artificial intelligence tools.

References

1. Ragnoli B, Pochetti P, Veselagu X, Malerba M. Delayed Diagnosis of Alpha-1 Antitrypsin Deficiency in an Elderly Patient. Diagnostics. 2026;16(9):1329. doi:10.3390/diagnostics16091329

2. Association of Pulmonary Advanced Practice Providers. 3rd Annual APAPP National Conference. Published May 6, 2026. Accessed August 4, 2026. https://www.pulmapp.com/event/3rd-annual-apapp-national-conference/