Revised Article-Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin deficiency, or AAT deficiency, is a condition that raises your risk for lung disease (especially if you smoke) and other diseases.
Source: National Heart, Lung, and Blood Institute Health Topics - Category: Consumer Health News Source Type: news

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We appreciate the interest and comments by Dr. Kumpers1 et al. on our recent work characterizing the clinical and histological findings in patients with severe alpha-1 antitrypsin (AAT) deficiency.2 To that end, we reviewed how the proposed liver stiffness measurements (LSM) ≥7.1 kPa performed in our cohort. Using that cut-off, the prevalence of clinically significant fibrosis defined as stage ≥2 would be 26%, which is remarkably similar to the 23.6% reported by Hamesch et al.3 in a large study that did not include biopsies.
Source: Journal of Hepatology - Category: Gastroenterology Authors: Tags: Letter to the Editor Source Type: research
This article describes hereditary hemochromatosis, Gilbert syndrome, alpha-1 antitrypsin deficiency, Wilson disease, PFIC, BRIC, and LAL-D. The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene. Gilbert syndrome is a benign cause of indirect hyperbilirubinemia. Alpha-1 antitrypsin deficiency causes both lung and liver disease. Wilson disease can cause neurologic disease and liver disease. Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis are rare causes of cholestasis. LAL-D is a rare disease that can appear similar to NAFLD in adults. PMID: 3...
Source: The Medical Clinics of North America - Category: General Medicine Authors: Tags: Med Clin North Am Source Type: research
We would like to congratulate Clark et al. for their pioneering work characterizing histological liver injury in patients with the classic severe alpha-1 antitrypsin (AAT) deficiency (genotype Pi*ZZ).1 The Pi*ZZ genotype is seen in 1:3,000 Caucasians and the associated liver disease is greatly understudied despite the fact that it is more frequent than several well-established liver disorders such as autoimmune hepatitis or primary sclerosing cholangitis.2,3 While Clark et al. greatly enhanced our understanding of the clinical, biochemical and histological liver phenotype of these individuals, we would like to further disc...
Source: Journal of Hepatology - Category: Gastroenterology Authors: Tags: Letter to the Editor Source Type: research
CONCLUSIONS: Smoking exposure leads to a significant dysregulation of a large number of molecular pathways involved in interstitial lung diseases and the proteomic studies applied to the study of BAL of idiopathic pulmonary fibrosis, sarcoidosis and other ILD contributed to clarify the underlying pathogenetic mechanisms facilitating ILD development and biomarker discovery. PMID: 31577091 [PubMed - as supplied by publisher]
Source: Panminerva Medica - Category: General Medicine Tags: Panminerva Med Source Type: research
This article describes hereditary hemochromatosis, Gilbert syndrome, alpha-1 antitrypsin deficiency, Wilson disease, PFIC, BRIC, and LAL-D. The most common cause of hereditary hemochromatosis is a C282Y mutation in the HFE gene. Gilbert syndrome is a benign cause of indirect hyperbilirubinemia. Alpha-1 antitrypsin deficiency causes both lung and liver disease. Wilson disease can cause neurologic disease and liver disease. Progressive familial intrahepatic cholestasis and benign recurrent intrahepatic cholestasis are rare causes of cholestasis. LAL-D is a rare disease that can appear similar to NAFLD in adults.
Source: Medical Clinics of North America - Category: Primary Care Authors: Source Type: research
EchoSens creates non-invasive liver diagnosis medical devices. The company’s line of products, called FibroScan, work by measuring the speed of ultrasound waves as they move through liver tissue. This measurement can tell us about the state of ...
Source: Medgadget - Category: Medical Devices Authors: Tags: Diagnostics Exclusive GI Medicine Source Type: blogs
Authors: Pye A, Turner AM Abstract Introduction Alpha-1 antitrypsin deficiency (AATD) is most often associated with chronic lung disease, early onset emphysema and liver disease. The standard of care in lung disease due to AATD is alpha-1 antitrypsin augmentation but there are several new and emerging treatment options under investigation for both lung and liver manifestations. Areas covered We review therapeutic approaches to lung and liver disease in alpha-1 antitrypsin deficiency (AATD) and the agents in clinical development according to their mode of action. The focus is on products in clinical trials, but data...
Source: Expert Opinion on Investigational Drugs - Category: Drugs & Pharmacology Tags: Expert Opin Investig Drugs Source Type: research
This study assessed omalizumab outcomes in real-world patients with allergic asthma stratified by pretreatment biomarker levels. METHODS: Patients with allergic asthma aged ≥12 years initiated on omalizumab with ≥12 months of data after index were identified in the Allergy Partners electronic medical records (2007-2018). Patients with ≥1 diagnosis of chronic obstructive pulmonary disease in combination with ≥10 pack-years of smoking, cystic fibrosis, Alpha-1 antitrypsin deficiency, bronchiectasis, interstitial lung disease, and sarcoidosis in the 12 months before or after index were excluded. Patients were...
Source: Clinical Therapeutics - Category: Drugs & Pharmacology Authors: Tags: Clin Ther Source Type: research
Endometriosis is a common gynecological disease and causes infertility. The discovery of biomarkers has been demonstrated to play an important role in medicine and diagnosing the patient. Metabolomics and metabolic profiling have become popular in many research projects and discovery novel biomarkers. Till now, little is known about the association of metabolic pathways and endometriosis. We investigate the seven metabolic pathways in endometriosis, including alpha-1 antitrypsin (AAT), alpha-1-acid glycoprotein (AGP-1), Hemopexin, Retinol-binding protein 4 (RBP4), Transferrin, Transthyretin and Vitamin D-binding protein (VDBP).
Source: Fertility and Sterility - Category: Reproduction Medicine Authors: Tags: Poster session Source Type: research
A robust and versatile automated glycoanalytical technology for serum antibodies and acute phase proteins:  ovarian cancer case study. Mol Cell Proteomics. 2019 Aug 30;: Authors: O'Flaherty RM, Muniyappa M, Walsh I, Stöckmann H, Hilliard M, Hutson R, Saldova R, Rudd P Abstract The direct association of the genome, transcriptome, metabolome, lipidome and proteome with the serum glycome has revealed systems of interconnected cellular pathways. The exact roles of individual glycoproteomes in the context of disease have yet to be elucidated. In a move towards personalized medicine, it is now bec...
Source: Molecular and Cellular Proteomics : MCP - Category: Molecular Biology Authors: Tags: Mol Cell Proteomics Source Type: research
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