How Common is Alpha-1 Antitrypsin Deficiency?
What is the prevalence of alpha-1 antitrypsin deficiency (AATD)? What comorbidities are associated with it? Are healthcare costs for these patients higher compared to patients with unrelated obstructive lung diseases? Awareness of AATD is low and prevalence data are only indicative. The authors of a study published in the European Respiratory Journal aimed to map this disease in a population of 4 million German insured individuals.
Introduction
Alpha-1 antitrypsin deficiency is a genetically determined disease with a wide range of clinical manifestations, including lung involvement, liver cirrhosis, c-ANCA (antineutrophil cytoplasmic antibodies)-associated vasculitis, or panniculitis. In individuals with lung involvement, the emphysematous phenotype is predominant. Due to a lack of epidemiological data, the exact prevalence of this disease in most European countries is unfortunately unknown.
Assessed Population
Patients with AATD were defined by repeated assignment of the diagnosis E88.0 from the International Classification of Diseases, 10th Revision (ICD-10). They were compared in a 1:10 ratio with patients with non-AATD chronic obstructive pulmonary disease (COPD), in a 1:5 ratio with patients with non-AATD pulmonary emphysema, and in a 1:10 ratio with patients with non-AATD asthma. Individuals were matched based on age and sex. Persons younger than 30 years were excluded.
Results
Out of a total of 4 million insured individuals, 673 patients with AATD were identified (590 aged ≥ 30 years). This corresponds to a prevalence of 23.73 per 100,000 in all age groups and 29.36 per 100,000 in individuals aged ≥ 30 years.
Regarding the occurrence of comorbidities, patients with AATD had a higher prevalence of arterial hypertension, chronic kidney disease, and diabetes compared to patients with non-AATD asthma or non-AATD pulmonary emphysema. Compared to patients with non-AATD COPD, AATD patients needed significantly more consultations and hospitalizations. Their hospital stays were also longer on average.
Conclusion
Data from this population study established the prevalence of AATD deficiency in the German population. It also confirmed the assumption of a higher incidence of comorbidities in patients with AATD. Another interesting finding was that patients with this condition, compared to those with other obstructive lung diseases, utilize healthcare services more frequently.
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Source: Greulich T., Nell C., Hohmann D. et al. The prevalence of diagnosed α1-antitrypsin deficiency and its comorbidities: results from a large population-based database. Eur Respir J 2017; 49 (1), pii: 1600154, doi: 10.1183/13993003.00154-2016.
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