QUALITY OF LIFE
Impact of AATD on daily activities
and quality of life
Improvements in health-related quality of life measures currently constitute an important goal
in efficacy studies, which can be complemented with assessments of the expected benefits,
risks, and costs of treatment
Robert Sandhaus
MD PhD
Director, Alpha-1
Program, National
Jewish Health, USA;
Clinical Director, Alpha-1
Foundation, Executive
VP and Medical Director,
AlphaNet Medical
Director, AlphaNet
Canada, USA
The burden and costs associated with
respiratory diseases are increasing worldwide,
placing significant pressure on health care systems
and payers. 1 In addition, genetic and progressive
pulmonary disorders including Alpha 1 Antitrypsin
deficiency (AATD), for which there are no curative
interventions, often constitute a source of
psychological distress for patients and their family
members, particularly when they can be passed
down to the next generations.
For patients with rare, chronic, multi-organ
diseases such as AATD, which are often not
promptly diagnosed, 2 it is of utmost important to be
comprehensively followed up by a multidisciplinary
team of health care professionals who are
knowledgeable about the complexities of the
condition and its long-term complications. 3 Poor
awareness of the disease and detection methods by
physicians, when combined with misperceptions
regarding the efficacy of the currently available
treatment options and the disease-associated
extra-pulmonary comorbidities, can contribute
to significant delays in diagnosis, with potential
negative effects on clinical outcomes. 4,5
Monitoring of pulmonary function and chest
radiology is used to determine progression of
emphysema and is a common outcome in clinical
trials. However, patients with AATD can present
with significant comorbidities, and their evaluation
is an essential part of disease management. Quality
of life (QoL) then assumes a particularly relevant
role when determining the impact of the disease on
patients and health care systems alike, as well as the
effectiveness of therapeutic interventions.
The importance of early diagnosis and
treatment access in AATD
Current guidelines recommend tests for all adults
with symptomatic fixed airflow obstruction
regardless of age or ethnicity, including those
with unexplained bronchiectasis or liver disease. 6
However, because the lung disease in AATD usually
develops in adulthood, there is often a delay in the
diagnosis of young adult patients with respiratory
symptoms in particular. Their symptoms may
be erroneously perceived as ‘attention-seeking’
behaviour, or even as evidence of a psychiatric
condition, since the early manifestations of
the disease may only result in mild alterations
of functional parameters, which can be easily
disregarded or missed during routine assessments.
In addition, the non-specific clinical respiratory
features of AATD can be mistaken for symptoms of
chronic obstructive pulmonary disease (COPD) or
hospitalpharmacyeurope.com | 2019 | 13