not receiving AAT therapy in the UK-AATD patient
registry, who were followed for a median of seven
years, showed a direct correlation with decline in
respiratory function, but the worsening of SGRQ
scores was slow and consistent with advanced age
and natural disease progression. Therefore, health
status, as determined by the SGRQ, does not seem
to constitute an ideal outcome in the controlled
setting of clinical trials since its change over time
is poorly correlated with physiological deterioration
in AATD. 18
In addition to pharmacological approaches and
surgical procedures, mainly lung transplantation,
lifestyle changes, including smoking cessation,
regular physical activity (for example, aerobic
exercise and intensity resistance training) as well
as pulmonary rehabilitation, can improve exercise
capacity and HRQoL, further reducing symptomatic
burden and health care resource utilisation. Other
preventive measures such as avoiding exposure to
passive smoking, dust or fumes and immunisation
against pathogens that target the lungs and the
liver can prevent exacerbations and worsening of
the condition. 4 An analysis of 3526 patients with
AATD, who were enrolled in a disease management
and prevention programme providing education
and interventions focusing on these preventive
measures, generated encouraging evidence, showing
that those individuals who read and complied
with the information on self-management of
AATD contained in a free reference guide were
more likely to exercise, stop smoking, and receive
the appropriate vaccination against influenza,
pneumonia and hepatitis A and B. 19
as the need for the medication to be administered
by a nurse. However, its associated costs are lower
than those of therapies for other rare genetic
pulmonary diseases such as cystic fibrosis. It is
important to note that these high costs of treatment
can eventually be attenuated by the lower expenses
incurred with decreased hospital stays compared
with patients with rapid lung function decline. 4
Although improvement of HRQoL is one of the
goals of treatment, there are limited data on its
impact on HRQoL. A small study in Europe showed
that home infusions, administered by a nurse,
were associated with reduced frequency of
exacerbations and decline in lung function when
compared to an historical cohort. 17 A recent meta-
analysis of randomised clinical trials evaluating
treatment options for severe AATD revealed
a small decline in the health status, measured as
the number of exacerbations per year, of patients
receiving AAT therapy. Although these differences
were not statistically significant,
the worsening of SGRQ scores in patients
receiving placebo was greater than in those
receiving AAT. 15
Although HRQoL parameters are frequently
used descriptively or as outcome measures in the
evaluation of patients with chronic respiratory
disorders, namely COPD, their use in AATD has
not been validated. An analysis of 454 patients
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