Impact of Alpha-1 Antitrypsin Deficiency on Quality of Life and Mental Health of Patients

Introduction

Alpha-1 antitrypsin deficiency (AATD) is one of the most common genetic disorders in adulthood. It is typically associated with the early onset of chronic obstructive pulmonary disease (COPD) or liver damage. Unfortunately, this chronic disease is currently incurable, representing a significant psychological burden for patients and their family members.

Impact of Social Environment

Due to its chronicity and gradual progression, AATD is associated with a significant psychological burden that can potentially lead to anxiety and a decreased quality of life. A cross-sectional study assessing the role of the social environment in 462 patients with COPD associated with AATD found that uncertainty about the course of the disease can be reduced by family support, functional social ties or networks, and the availability of patient support groups. Conversely, uncertainty increases if family members also have the same disease.

Employment

Subjective quality of life (QoL) assessments correlate with the degree of airway obstruction and the severity of COPD. It is a relevant indicator of disease severity and prognosis. In patients with AATD, frequent exacerbations contribute to frequent workplace absences and physical limitations. Smoking and exposure to dust and fumes can further increase this frequency.

Data from patient registries in several countries have shed light on the impact of the natural course of the disease on QoL scores. An analysis of 868 adult patients with severe AATD and asymptomatic patients monitored over 7 years examined the course of AATD and its relationship with QoL, assessed through the St. George's Respiratory Questionnaire (SGRQ). A worsening SGRQ score correlated with an increased frequency of exacerbations, smoking habits, and lung diffusing capacity. A higher frequency of exacerbations particularly affected the employment impact part of the SGQR, while smoking was associated with worse physical fitness scores.

Extrapulmonary Manifestations

A cross-sectional prospective study with 2714 patients in the German COSYCONET cohort aimed to determine the prevalence and severity of extrapulmonary manifestations and their impact on hospitalization rates, morbidity, and mortality. According to a comparison of patients with COPD with or without AATD, the presence of AATD, despite greater healthcare in these patients, does not affect QoL assessed using the SGRQ and the COPD Assessment Test.

Quality of Life as an Important Factor in Evaluating Therapy Effectiveness

The AATD phenotype and its impact on patients' quality of life are highly heterogeneous. Over the course of the disease, emphysema progression and health deterioration occur. AATD is not a curable disease; however, therapy provides several clinical benefits, including reduced hospitalization rates. Another benefit is certainly an increased QoL. Early diagnosis and prompt initiation of therapy are important for preserving lung tissue.

Since this disease is currently incurable, the impact of therapy on quality of life is a crucial factor in assessing its effectiveness. Lifestyle factors, particularly smoking (or lack thereof), physical (in)activity, and exposure to dusty environments, play an important role in treating AATD.

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Source: Sandhaus R. Impact of AATD on daily activities and quality of life. Alpha 1 Antitrypsin Deficiency. Handbook. Hospital Pharmacy Europe, 2019. Available at: https://view.joomag.com/hpe-alpha-1-antitrypsin-deficiency/0963647001571310139?short