Costs of Medical Care Among Augmentation Therapy Users and Non-Users with Alpha-1 Antitrypsin Deficiency in the United States

Alpha-1 antitrypsin (AAT) deficiency (AATD) is an autosomal co-dominant condition that predisposes to the development of lung disease, primarily emphysema. Emphysema results from the breakdown of lung matrix elastin by proteases, including neutrophil elastase, a protease normally inhibited by AAT. AATD also predisposes to liver (cirrhosis) and skin (panniculitis) disease, and to vasculitis. The prevalence of AATD is estimated to be approximately 1 in 3,500 individuals in the United States. However, lack of awareness of AATD among some physicians, misperceptions regarding the absence of effective therapy, and the close overlap in symptoms with asthma and non-AATD chronic obstructive pulmonary disease are thought to contribute to under-recognition of the disease. In patients with AATD, treatment with intravenous AAT augmentation therapy is the only currently available treatment known to slow the progression of emphysema. Moreover, smoking cessation and other lifestyle interventions also help improve outcomes. Early diagnosis and intervention are of key importance due to the irreversible nature of the resultant emphysema. Liver disease is the second leading cause of death among patients with AATD and a minority of patients present with panniculitis or antineutrophil cytoplasmic antibody-associated vasculitis, thought to be directly related to AATD. Though no randomized trial has assessed the effectiveness of augmentation therapy for AATD-associated panniculitis, clinical experience and case series suggest there is a benefit. Other diseases putatively linked to AATD include aneurysmal disease and multiple neurological conditions, although these associations remain speculative in nature.

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Medical Costs of Alpha-1 Antitrypsin Deficiency-Associated COPD in the United States

10.21203/rs.2.19162/v1 ◽

2019 ◽

Author(s):

Jan Sieluk ◽

Julia F Slejko ◽

Henry Silverman ◽

Eleanor Perfetto ◽

C. Daniel Mullins

Keyword(s):

Index Date ◽

Healthcare Resource ◽

The United States ◽

Chronic Obstructive ◽

Augmentation Therapy ◽

Copd Patients ◽

Before And After ◽

Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin

Abstract Background There are limited data on economic aspects of the genetic variant of chronic obstructive pulmonary disease (COPD) in the context of the more prevalent form of COPD. The objective of this study was to isolate the healthcare resource utilization and economic burden attributable to the presence of a genetic factor among COPD patients with and without Alpha-1 Antitrypsin Deficiency (AATD), twelve months before and after their initial COPD diagnosis.Results The study population consisted of 8,881 patients (953 cases matched with 7,928 controls). The AATD-associated COPD cohort had higher expenditures and use of OV and OTH services, as well as OV, OP, ER, RX, and OTH before and after the index date, respectively. Adjusted total cost ratios for AATD-associated COPD patients as compared to controls were 2.04 [95% CI: 1.60 – 2.59] and 1.98 [95% CI: 1.55 – 2.52] while the incremental cost difference totaled $6,861 [95% CI: $3,025 - $10,698] and $5,772 [95% CI: $1,940 - $9,604] per patient before and after the index date, respectively.Conclusions Twelve months before and after their initial COPD diagnosis, patients with AATD incur higher healthcare utilization costs that are double the cost of similar COPD patients without AATD. This study also suggests that increased costs of AATD-associated COPD are not solely attributable to augmentation therapy use. Future studies should further explore the relationship between augmentation therapy, healthcare resource use, and other AATD-associated COPD expenditures.

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PRS18 ANALYSIS OF PULMONARY-RELATED CLINICAL MANIFESTATIONS AND HEALTHCARE RESOURCE USE IN PATIENTS IN THE UNITED STATES WITH ALPHA-1 ANTITRYPSIN DEFICIENCY

Value in Health ◽

10.1016/j.jval.2020.04.1343 ◽

2020 ◽

Vol 23 ◽

pp. S352

Author(s):

E. Mayen Herrera ◽

C. Joseph ◽

M. Czorniak

Keyword(s):

United States ◽

Resource Use ◽

Healthcare Resource ◽

Clinical Manifestations ◽

The United States ◽

Healthcare Resource Use ◽

Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin

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Unique Case of Alpha 1-Antitrypsin Deficiency Causing Decreased Protein-C and S Activity Leading to DVT and Pulmonary Embolism

Edelweiss Applied Science and Technology ◽

10.33805/2576-8484.144 ◽

2018 ◽

pp. 232-233

Author(s):

Manoj Singla

Keyword(s):

United States ◽

Pulmonary Embolism ◽

Liver Disease ◽

Protein C ◽

The United States ◽

Unique Case ◽

Severe Deficiency ◽

Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin Deficiency ◽

Alpha 1 Antitrypsin

Although Alpha-1 Antitrypsin Deficiency (AATD) is generally considered to be rare, estimates that 80,000 to 100,000 individuals in the United States have severe deficiency of AAT suggest that the disease is under-recognized. The prevalence of AAT varies considerably from one country to another; however, it is estimated that more than 3 million people worldwide have allele combinations associated with severe deficiency of AAT The pathogenesis of the liver disease is quite different and is called a "toxic gain of function." The liver disease results from the accumulation within the hepatocyte of unsecreted variant AAT protein. Only those genotypes associated with pathologic polymerization of AAT within the endoplasmic reticulum of hepatocytes (eg, PI*ZZ type AATD) produce disease. Most patients with liver disease due to AATD are homozygous for the Z allele (ie, PI*ZZ); liver disease does not occur in null homozygotes who have severe deficiency of AAT, but no intra-hepatocytic accumulation.

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