AATD News Briefs

SERPINA1 Genotypes Pose Different Risks for Liver Pathology

SERPINA1 genotype determines the severity of alpha-1 antitrypsin deficiency (AATD) and the serum levels of alpha-1 antitrypsin (AAT), concluded a new study published in the International Journal of Molecular Sciences. It also influences the risk of hepatocellular carcinoma (HCC) in patients with liver cirrhosis. SERPINA1 provides instructions for the production of AAT, a protein mainly…

Direct-to-Consumer Genomic Testing May Help Identify AATD

Direct-to-consumer (DTC) genomic testing services may aid in identifying individuals and families at risk for alpha-1 antitrypsin deficiency (AATD), according to a new study published in Chest. Participants were recruited from patients who had previously received DTC genomic services from the company 23andMe and were provided access to the survey between September 2018 and April…

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COVID-19 Could Have Long-Lasting Impact on Research Into Rare Diseases

COVID-19 could have profound implications on the way rare disease researchers conduct clinical trials, long after the pandemic itself subsides. During the pandemic, “the collaborations were incredible, and the ability to mobilize multidisciplinary groups was unlike anything I’ve ever seen before,” said Jeanine D’Armiento, MD, PhD, board chair of the Alpha-1 Foundation, a Miami, Florida-based…

Importance of AATD Patients Recognizing Exacerbations in Pulmonary Symptoms

Changes in usual lung symptoms are not universally recognized as exacerbations, according to a new study published in the journal Chest and being presented at the Chest 2021 Annual Meeting. The correlation between symptom-based exacerbation and the definition of an exacerbation based on health care utilization is not high.  Identifying pulmonary exacerbations in patients with…

AATD Testing in COPD Patients Remains Low Despite Clinical Benefits

Are we testing enough for alpha-1 antitrypsin deficiency (AATD) in patients who develop chronic obstructive pulmonary disease (COPD)? Rao and colleagues set out to investigate the answer to this question. They discovered that only 20.6% of COPD patients underwent AATD testing, despite the majority of physicians demonstrating awareness of the importance to test all newly…

AATD Patient Education

Learn About the Therapies for Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency (AATD) is an inherited autosomal codominant condition that is passed down from both parents to their children. The disease was first observed as a connection between low plasma serum levels of the protein alpha-1 antitrypsin (AAT) and symptoms of pulmonary emphysema. The therapies of AATD include pulmonary rehabilitation therapy, supportive respiratory therapy,…

Portal Hypertension Complicated by HPS: A Case Report Consistent With AATD

A 27-year-old man presented with portal hypertension and cirrhosis complicated by hepatopulmonary syndrome (HPS). The patient’s liver biopsy findings were consistent with alpha-1 antitrypsin deficiency (AATD). “HPS is a serious complication of chronic liver disease, characterized by portal hypertension and arterial hypoxemia due to intrapulmonary vascular dilatation,” the authors stated in the case report published…

The Etiology of AATD

The Etiology and Different Types of AATD

Alpha-1 antitrypsin deficiency (AATD) is a rare genetic condition characterized by liver and obstructive lung disease. This condition is caused by a disruption in the normal production of the protein alpha-1 antitrypsin. Learn about the genes, mutations, and types of AATD here: The etiology and different types of AATD

Alpha-1 Antitrypsin Deficiency & COVID-19

Circulating AAT Polymers in AATD Possibly Associated With Lung and Liver Disease

Spanish researchers have found that circulating polymers (CP) of alpha-1 antitrypsin (AAT) may play a role in the mechanisms of alpha-1 antitrypsin deficiency (AATD). This could help physicians identify AATD patients who are at a higher risk of developing lung and liver disease, according to a study published in Respiratory Research.  AATD is a rare…

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