The attempt to resolve painful pathological symptoms guides much of the decision-making we make as physicians. For example, in patients with acute gastroenteritis, the treatment plan is clear: cure the diarrhea and the patient will feel better. 

This principle also applies in rare, chronic diseases such as alpha-1 antitrypsin deficiency (AATD). We know that AATD primarily causes lung and liver pathology; however, unlike acute gastroenteritis, for example, there is no permanent cure. Hence, the next best thing is to ensure that disease progression is suppressed as much as possible. 

This naturally requires that certain health parameters are routinely measured. Since treatment is lifelong, it is important for physicians to schedule regular follow-ups to monitor disease progression. There is an urgent need for the regular appraisal of the quality of the treatment regime prescribed, both to reassure patients and their families and also to change course if outcomes remain poor. 


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Quality Assessment 

As published in Allergy and Asthma Proceedings, Ptasinski and colleagues conducted a study to assess if the care received by a group of patients with AATD was adequate.

“Quality assurance is essential at all levels of health-care systems and provides just one aspect of the constant, continual process required to optimize patient care and outcomes,” they wrote. “For this quality assurance, we sought to determine if the physicians were ordering appropriate tests, vaccinations, and medications as well as appropriately counseling their patients with AATD.”

In addition, the team assessed the quality of the decisions made by different members of the AATD multidisciplinary team, including gastroenterologists, allergists, and pulmonologists. 

Read more about AATD etiology 

From a general database of patients diagnosed with AATD at a healthcare center, the research team eventually chose 48 patients with the ZZ genotype. Among the 48 patients, 25 received treatment by allergists, 6 received treatment by gastroenterologists, and 6 received treatment by pulmonologists (indicating that not every patient was treated in a multidisciplinary setting). 

The research team identified many areas of follow-up that deserve full exploration. These include current tobacco use, lung function tests, liver function tests, vaccination schedules, types of medications used, and the quality of medical education provided. 

Among the 3 types of specialists investigated, the researchers found that allergists demonstrated the competency needed to treat patients with AATD in a holistic manner, particularly those with the ZZ genotype, which is relatively severe. 

“Assessment of liver and lung diseases, and consultation of colleagues in pulmonary and gastroenterology when needed, and healthy liver and lung living is essential for all patients with the ZZ genotype,” Ptaskinki and colleagues concluded. 

Parameters to Watch 

Let’s discuss in greater detail the healthcare outcomes that physicians of patients with AATD need to monitor. 

The main treatment for AATD in recent years has been AAT augmentation therapy. Studies have shown it allows patients to achieve significant amelioration of disease parameters, including preserving lung function, slowing emphysema progression, improving quality of life, and prolonging survival. 

Indeed, the decline of pulmonary health is a key feature of AATD. Many of the therapies used in patients with AATD are related to preventing the development of chronic obstructive pulmonary disease (COPD), such as the use of bronchodilators, long-acting muscarinic receptor agonists, and long-acting beta-adrenergic receptor agonists. 

Hence, physicians should monitor clinical indicators of pulmonary decline with care. These include lung density as determined via computed tomography (CT) imaging, lung function tests (such as FEV1% and diffusing capacity for carbon monoxide), and the frequency of acute exacerbations.

Read more about AATD treatment 

The goal is to prevent lung decline past the point of no return, ie, the need for lung transplantation. If the lungs deteriorate to this point, the risk of complications rises exponentially, while the quality of life falls sharply.

“AATD patients represent 5% of lung transplants performed worldwide, but outcomes and survival rates in a post-transplant phase are still unknown,” Santos and Turner wrote in Faculty Reviews. 

With regard to liver pathology, physicians are urged to carry out liver function tests and abdominal ultrasound/CT scans at least once a year. These investigations can yield useful information regarding the state of the patient’s liver health, allowing for clinical intervention if necessary. 

“Children may present neonatal cholestasis with jaundice, which often reverts to normal but may also progress to cirrhosis,” Tanash and Piitulainen wrote in the Journal of Gastroenterology. “In adults, liver disease is often undetected until cirrhosis or hepatocellular carcinoma is evident.” 

Despite the clear association between AATD and liver disease, scientists are still unclear about the exact mechanisms by which AATD contributes to the progression of liver pathology. However, studies indicate that roughly one-fifth of patients with the ZZ genotype die from liver disease (primarily liver cirrhosis and hepatocellular carcinoma). This means the early identification of liver disease is necessary to improve clinical outcomes. 

In conclusion, like most rare and chronic diseases, the treatment of AATD is far from being a one-off event. Instead, physicians need to constantly monitor important health parameters year after year with due diligence to improve outcomes and prolong survival. 

References

Santos G, Turner AM. Alpha-1 antitrypsin deficiency: an update on clinical aspects of diagnosis and managementFac Rev. 2020;9:1. doi:10.12703/b/9-1

Ptasinski A, Colello J, Ptasinski J, Barclay G, Craig T. The need for continuous quality assessment for providing optimal comprehensive care for patients with alpha-1 antitrypsin deficiencyAllergy Asthma Proc. 2021;42(6):537-542. doi:10.2500/aap.2021.42.210067

Tanash HA, Piitulainen E. Liver disease in adults with severe alpha-1-antitrypsin deficiencyJ Gastroenterol. 2019;54(6):541-548. doi:10.1007/s00535-019-01548-y