HPE Alpha 1 Antitrypsin Deficiency | Page 13

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