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Recommendations for the diagnosis and treatment of alpha-1 antitrypsin deficiency.
J Bras Pneumol
December 2024
. Vall d'Hebron Institut de Recerca - VHIR - Hospital Universitário Valld'Hebron, Barcelona, España.
Alpha-1 antitrypsin deficiency (AATD) is a relatively rare genetic disorder, inherited in an autosomal codominant manner, that results in reduced serum AAT concentrations, with a consequent reduction in antielastase activity in the lungs, as well as an increased risk of diseases such as pulmonary emphysema, liver cirrhosis, and necrotizing panniculitis. It results from different mutations in the SERPINA1 gene, leading to changes in the AAT glycoprotein, which can alter its concentration, conformation, and function. Unfortunately, underdiagnosis is quite common; it is possible that only 10% of cases are diagnosed.
View Article and Find Full Text PDFA unique case of steroid-resistant, giant cellulitis-like Sweet syndrome mimicking alpha-1-antitrypsin deficiency-associated panniculitis: successful treatment with dapsone.
Clin Exp Dermatol
November 2024
Dermatology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
The value of alpha-1 antitrypsin functional testing and genotyping for the diagnosis of the MS variant of alpha-1 antitrypsin deficiency-associated panniculitis.
Ann Dermatol Venereol
September 2024
Service de Dermatologie, Hôpital Saint-Louis, AP-HP, Paris, France.
Panniculitis in α-Antitrypsin Deficiency.
Mayo Clin Proc
August 2024
Department of Dermatology and Laboratory Medicine, Mayo Clinic, Rochester, MN.
Characteristics of Patients With Alpha-1 Antitrypsin Deficiency From Rural Appalachia: A Retrospective Single-Center Study.
Cureus
March 2024
Internal Medicine/Pulmonary Critical Care, Appalachian Regional Healthcare, Harlan, USA.
Alpha-1 antitrypsin (AAT) deficiency, an autosomal co-dominant inherited condition, significantly impacts lung and liver functions, with mutations in the SERPINA1 gene, notably the Z allele, playing a pivotal role in disease susceptibility. This retrospective descriptive study from a rural Eastern Kentucky pulmonary clinic aimed to characterize patients with AAT deficiency, focusing on demographic, clinical, and laboratory parameters extracted from electronic health records (EHR) of Appalachian Regional Healthcare (ARH). Among 100 patient encounters, 56 were analyzed, revealing notable sex-based differences in smoking rates and co-existing conditions, with males showing higher rates of black lung and chronic obstructive pulmonary disease.
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