APPs on the Frontline of AATD Management, With Sarah Tomashefski, MSN

Alpha-1 antitrypsin deficiency (AATD) remains significantly underdiagnosed, in part because of persistent misconceptions about who is at risk — and advanced practice providers (APPs) working in pulmonary medicine are among the most important stakeholders in changing that.

Sarah Tomashefski, MSN, NP-C, Lead Outpatient Pulmonary Advanced Practice Provider at Prisma Health in Greenville, South Carolina, Clinical Assistant Professor in the School of Health Research at Clemson University, and President-Elect of the Association of Pulmonary Advanced Practice Providers (APAPP), gave a talk on AATD awareness and screening at the APAPP annual conference and sat down with HCPLive to further discuss the unique advantages of APPs in AATD care.¹

Despite recommendations from major respiratory societies to screen all patients with chronic obstructive pulmonary disease (COPD) for AATD regardless of age, ethnicity, or smoking history, only an estimated 10–15% of affected individuals in the United States have received a diagnosis, and diagnostic delays of 5 to 8 years remain stubbornly persistent.^1,2 Her central message: the disease is more common than most providers realize, it continues to be missed with regularity, and APPs are well positioned to catch it.

"People think it's a disease that happens to young smokers with basilar predominant emphysema," Tomashefski said. "But there are people 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."

The diagnostic delay, she noted, often stems from patients cycling through multiple specialists with nonspecific complaints — shortness of breath, cough — and receiving a working diagnosis of asthma or obstructive lung disease without a complete workup. Inadequate provider knowledge about AATD and inattention to screening guidelines in patients with fixed airflow obstruction have been identified as key drivers of this gap.² Her position: any patient with unexplained obstructive lung disease should be screened for AATD, and this is not currently happening consistently.

APPs are a natural lever point for closing that gap, she explained, both in practices where they see new pulmonary consults and in follow-up models where they co-manage patients alongside physicians. In both settings, the responsibility falls to APPs to check whether AATD screening has been completed and, if not, to order it.

"It's our responsibility as APPs to be reading through their medical history thoroughly, and if that test got missed for some reason, to make sure we encourage the patient to get it done," she said.

She also noted that patient awareness of AATD remains low: many patients she screens have no idea the condition could be contributing to their lung disease, underscoring that closing the diagnostic gap requires education at both the provider and patient level.

Tomashefski had no relevant disclosures.

References

1. Sandhaus RA, Turino G, Brantly ML, et al. The diagnosis and management of alpha-1 antitrypsin deficiency in the adult. Chronic Obstr Pulm Dis. 2016;3(3):668–682.

2. Stoller JK, et al. Detecting alpha-1 antitrypsin deficiency: current state, impediments, opportunities, and future directions. Ann Am Thorac Soc. 2025;22(1):23–34. doi:10.1513/AnnalsATS.202406-600FR