Beyond discussions on diagnosis, treatment, and prognosis, it is ever so important for doctors once in a while to ask their patients “How are you coping? What can we do to make your life a little easier?”
In old-school medicine, doctors did most of the talking and patients would generally do as they were told; getting patient feedback on their treatment experience was not a huge priority.
Today, we understand that quality of life is an important parameter of health care; in other words, the patient experience matters. Sandhaus and colleagues have written an empathetic paper on how the medical community can improve the lives of patients with alpha-1 antitrypsin deficiency (AATD). We will explore some of their recommendations in this article.
Underdiagnosis and Disease Burden
Sandhaus et al made an excellent point as to why AATD patients are at risk of a poorer quality of life compared to other patients: under-diagnosis. They wrote, “AATD is greatly underdiagnosed due to a lack of disease awareness and difficulties in confirming cases of AATD, which are often incompletely diagnosed as non-AATD [chronic obstructive pulmonary disease (COPD)] or asthma, leading to long delays in obtaining a confirmed diagnosis and appropriate disease management.”
Read more about AATD epidemiology
Indeed, AATD patients tend to present with symptoms similar to those experienced by non-AATD COPD patients. This means patients are often misdiagnosed early on and the misdiagnosis is corrected later once additional suspicions come into view. In my experience as a doctor rotating through the internal medicine department, I have personally never seen further investigations carried out once a COPD diagnosis has been made.
After an AATD diagnosis is made, treatment can then begin. Currently, the only disease-modifying therapy (DMT) available to AATD patients is weekly intravenous (IV) AAT therapy. This is normally carried out in a hospital or outpatient setting.
Studies involving quality of life (QoL) questionnaires have shown that some patients find these weekly visits to healthcare settings to be inconvenient and adding to their disease burden. Therefore, there is a movement toward finding ways to deliver in-home AATD therapy.
This is the subject of another study, carried out by Annunziata et al. They investigated the effects of a specially designed program that allowed intravenous augmentation therapy to be performed at home by qualified nurses in continuous contact with the patient’s physician. This study was carried out during the COVID-19 pandemic when travel restrictions were frequently in place and hospital visits were discouraged unless vital (to minimize the risk of contracting the virus).
The research team asked participants to complete a QoL questionnaire, asking them 6 questions: about their coughing, phlegm production, shortness of breath, wheezing, whether the “augmentation therapy interferes with their life,” and whether their “respiratory disease is a nuisance to their family, friends, or neighbors.”
“All the questionnaires completed at 3 months showed an increase in score compared to the questionnaire completed during the last hospital administration session,” Annunziata and colleagues wrote. In addition, they reported that all patients who could undergo home therapy without losing work or school days had felt “very stressed” when they previously had to go to the hospital to undergo IV therapy.
Feeling stressed by being in a healthcare environment is a finding that some physicians might struggle to empathize with. Since many of us work in these settings, we do not necessarily find them to be stressful locations to be in. However, if we put ourselves in the shoes of our patients, we can begin to see why being in a hospital weekly can be a stressful experience: finding parking, the often long waiting periods, the risk of catching a disease, fear of needles, and a physical reminder that you are indeed ill.
Exacerbations and Rehabilitation
Another aspect of AATD that is very important to patients’ sense of their quality of life is the average number of exacerbations of COPD that they experience. “An increase in length and number of exacerbations negatively impacts patient QoL, morbidity, and mortality in AATD and non-AATD COPD,” Sandhaus and colleagues wrote.
Therefore, Sandhaus et al have a message for all physicians who want to improve the quality of life of their AATD patients: focus on exacerbations. A landmark clinical trial, EXACTLE, used computed tomography and exacerbations to assess the therapeutic effects of IV AAT therapy; its conclusion was that AAT therapy reduces the severity of exacerbations, but not their frequency. However, the best way to reduce exacerbations of AAT-related COPD is to administer IV AAT therapy consistently.
Read more about AATD therapies
Another way to improve the quality of life of AATD patients is through pulmonary rehabilitation programs. Sandhaus and colleagues summarized pulmonary rehabilitation and what it achieves: “Pulmonary rehabilitation is a comprehensive exercise and educational intervention program that is based upon thorough patient assessment to achieve patient-tailored lung therapy and promote long-term adherence to health-enhancing behaviors.”
The key phrase is “patient-tailored.” Pulmonary rehabilitation includes taking into account patients’ comorbidities, ensuring their inhalation technique is correct, and teaching the patient to perform physical exercises according to their fitness capacity. Evidence suggests that pulmonary rehabilitation, combined with medication adherence, can make a positive difference in the quality of life of AATD patients.
Empathy Is Key
As physicians, we have the tremendous privilege of serving people who are deeply vulnerable. It is our duty to ensure that we always see our patients through the eyes of empathy, and constantly think about how we can make their lives better, in ways both big and small.
Sandhaus RA, Strange C, Zanichelli A, Skålvoll K, Koczulla AR, Stockley RA. Improving the lives of patients with alpha-1 antitrypsin deficiency. Int J Chron Obstruct Pulmon Dis. Published online December 10, 2020. doi:10.2147/COPD.S276773
Annunziata A, Lanza M, Coppola A, Andreozzi P, Spinelli S, Fiorentino G. Alpha-1 antitrypsin deficiency: home therapy. Front Pharmacol. Published online April 15, 2021. doi:10.3389/fphar.2021.575402