The medical world often keeps an arm’s length away from all things emotional. In my experience as a doctor in Borneo, the description of some doctors treating patients as mere disease hosts who need to be discharged as soon as possible is true. For example, when undertaking the task of blood-taking, all that matters to some doctors is finding a good vein, regardless of the pain endured by the patient.
Of course, this is a broad generalization, and often happens only when hospitals are understaffed and the doctors are overworked. But sadly, this is an unyielding reality for much of the developing world. Doctors are simply so burnt out that they have little time to spend chatting with their patients and getting to know them better.
The unvarnished truth is that all patients are suffering. No one chooses to be inflicted with a disease, especially one that is chronic and carries a poor prognosis. Patients often put on a brave face during follow-ups, so the true scale of their suffering is known only to them.
In recent years, the medical literature has increasingly used the term “disease burden” to talk about the suffering that a particular disease is causing a patient. The term “disease burden” still has a sterile ring to it, but it is a step in the right direction. We are finally acknowledging, with increasing frequency, the heavy toll of living with a disease in which there is no definitive cure.
A Heavy Cost for Patients
As published in the European Respiratory Review, Miravitlles and colleagues conducted a systematic literature review on the disease burden associated with alpha-1 antitrypsin deficiency (AATD). “An increased understanding of this burden may help improve awareness and diagnosis rates, as well as healthcare resource planning and allocation,” they wrote.
The most common lung pathologies associated with AATD are chronic obstructive pulmonary disease (COPD), emphysema, bronchiectasis, and acute exacerbations. Different patients may experience different clinical outcomes, but once these lung diseases start to develop, the clinical picture worsens considerably.
Patients with AATD also experience extrapulmonary manifestations of the disease, most commonly in the liver. They are at a higher risk of developing liver fibrosis, liver steatosis, cirrhosis, and hepatocellular carcinoma. Concurrent pathology in the lungs and the liver significantly increases the disease burden experienced by patients with AATD.
Read more about AATD etiology
Nakanishi and colleagues conducted a similar study on the disease burden associated with AATD, focusing on undiagnosed patients with the PI*ZZ genotype. They discovered the majority of individuals with PI*ZZ were not diagnosed with AATD. This puts these individuals at severe risk of developing respiratory disease and all-cause mortality.
The PI*ZZ genotype itself entails a heavy disease burden. It is associated with an increased risk of pneumonia and COPD (regardless of smoking status), as well as asthma and bronchiectasis among smokers. Hence, smoking cessation can relieve some of the pathology associated with AATD.
It is clear that AATD confers a significant disease burden on patients, but this burden extends beyond the patient alone. Miravitlles and colleagues highlighted the burden of the disease on the caregiver. For example, a study demonstrated that mothers of children with AATD experienced more anxiety compared to mothers without. Some parents report feelings of guilt, as if their genetic makeup was responsible for their children’s suffering.
In analyzing 5 studies on the effects of caring for their own child with AATD, Miravitlles et al reported feedback from parents comprising feelings of anxiety and despair, genetic discrimination, financial burden, and long travel times. Parents also reported that the public and even some healthcare professionals were unfamiliar with AATD and hence unable to empathize with their needs.
Read more about AATD patient education
In addition, the cost of care for patients with AATD is significant. Not surprisingly, studies have indicated that patients with AATD had more frequent emergency visits and outpatient visits. How much do all these trips add up to? In COPD, Herrera and colleagues estimate the median annual cost of severe AATD to be $185 for the emergency department, $16,038 for inpatient visits, and $2663 for outpatient visits.
Improving Quality of Life
Studies on the quality of life of patients with AATD also show a decline compared to the healthy population. Patients who experience frequent acute exacerbations scored lower in quality of life surveys. However, patients who were on AAT therapy and pulmonary rehabilitation reported better quality of life compared to patients who were not on those treatment regimens.
Given the significant disease burden of AATD, what can be done to give patients the best shot at a normal life? A practical place to start is lifestyle changes—smoking cessation has repeatedly been shown to reduce lung pathology.
In addition, we should strive to ensure that AATD care is well-funded, without excluding patients and their families. In the 21st century, everyone should be able to live with dignity, regardless of their disease status.
Naturally, research into finding a cure for AATD should be accelerated. This would remove its disease burden once and for all. For patients and their carers, the day cannot come soon enough.
Nakanishi T, Forgetta V, Handa T, et al. The undiagnosed disease burden associated with alpha-1 antitrypsin deficiency genotypes. Eur Respir J. 2020;56(6):2001441. doi:10.1183/13993003.01441-2020
Miravitlles M, Herepath M, Priyendu A, et al. Disease burden associated with alpha-1 antitrypsin deficiency: systematic and structured literature reviews. Eur Respir Rev. 2022;31(163):210262. doi:10.1183/16000617.0262-2021
Herrera EM, Joseph C, Brouwer ES, Gandhi V, Czorniak M. Alpha-1 Antitrypsin deficiency-associated clinical manifestations and healthcare resource use in the United States. COPD. 2021;18(3):315-324. doi:10.1080/15412555.2021.1917532