AATD Is Not Just COPD: Why Testing Rates Stay Low

This episode, "AATD Is Not Just COPD: Why Testing Rates Stay Low," features Drs. Goldklang and Sandhaus examining how AATD differs from COPD and why the testing gap persists.

Dr. Haumschild asks Dr. Goldklang how she helps patients and payers understand that AATD is a distinct disease rather than a subtype of COPD. Dr. Goldklang says not all AATD presents as COPD. Direct-to-consumer genetic testing and better use of familial testing guidelines are uncovering patients who look different from the classic case. Falling smoking rates mean many patients are diagnosed in their 50s and 60s with little or no smoking history. They may carry a long label of asthma, mild bronchiectasis, or asthma with incomplete reversibility, and they may show less emphysema.

She urges the community to focus on familial testing despite some reluctance. Finding relatives who do not yet have disease creates the real intervention point for lifestyle change. She cites work from Dr. McElvaney's group showing smoking quit rates near 90 percent in AATD. She adds that patients can also change occupational exposures and should be counseled about liver risk if they are ZZ.

Dr. Haumschild then notes that diagnosis is delayed by five to eight years and asks Dr. Sandhaus what drives the gap. Dr. Sandhaus points out that guidelines have recommended testing all COPD patients since 1989, again in 2003, and again in 2016, with little effect. He suggests the GOLD recommendation may have more influence.

Most COPD patients are followed in primary care, where clinicians have limited time for what they consider esoteric diseases. Many pulmonologists believe they know an AATD patient on sight, looking for young patients, never-smokers, or basilar emphysema on CT. Few patients receive a CT. Dr. Sandhaus says health plans can prompt covered COPD patients to ask their physicians for testing. Pharmacies could add a reminder when a long-acting inhaler is filled.

In "AATD Genotypes, AAT Levels, and Lung Versus Liver Disease Risk," our experts turn to what AAT levels and genotypes actually predict, including a caution from Dr. Sandhaus about alleles that produce normal levels of a nonfunctional protein.