Disease Information for Alpha 1 antitrypsin deficiency

Clinical Manifestations
Signs & Symptoms
Choluria/Biliuria in Children
Choluria/Biliuria in Elderly
Jaundice of newborn
Palpable Liver/Hepatomegaly
Bronchospasm signs
Lung signs/abnormality
Wheezing in Elderly
Typical Clinical Presentation
Clinical Presentation & Variations
Presentation/Childhood Cirrhosis Liver disease
Presentation/Cirrhosis Emphysema Combined
Presentation/Cirrhosis Non-Alcoholic
Presentation/Liver Lung disease Young person
Presentation/Pancreatitis Kids Recurrent
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Middle Age Adult
Population/Pediatrics population
Family History
Family history/Parental consanguinity
Family history/Liver disease
Family history/Lung disease
Family history/Lung disease/unusual type
Sex & Age Groups
Population/Adult Aged Only
Population/Fifties adult
Population/Middle-aged adult
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Anti-elastase low serum level (Lab)
Chromosomal abnormality (Lab)
Liver Functions Abnormal (Lab)
Protein electrophoresis/serum (SEP/SPE)abnormal (Lab)
Abnormal Lab Findings - Decreased
Alpha globulin, serum (Lab)
Alpha-1-antitrypsin globulin level (Lab)
Abnormal Lab Findings - Increased
Bilirubin, serum (Lab)
Diagnostic Test Results
Other Tests & Procedures
Gastroscopy/Esophageal varices
PFT/Abnormal pulmonary function tests
BX/Liver biopsy/Bile ducts/inspissated mucus/material
BX/Liver biopsy/Diagnostic
BX/Liver biopsy/PAS positive inclusion bodies/hepatocyte
BX/Liver/Diastase resistant PAS/inclusion bodies
Xray/Chest abnormal
Xray/Chest/Lung fields/Abnormal
Xray/Hypovascular lung bases/Chest
Xray/Infiltrate, pulmonary/Chest
Xray/Lower lung disease/bases
X-RAY With contrast
UGI/Esophageal varices
Associated Diseases & Rule outs
Rule Outs
Autoimmune hepatitis
Hepatic vein thrombosis (Budd-Chiari)
Primary biliary cirrhosis
Chronic Hepatitis
Associated Disease & Complications
Aromatase deficiency
Bullous Emphysema Syndrome
Carcinoma, hepatocellular
Cholestasis/intrahepatic biliary obstruction
Cholestatic Jaundice Syndrome
Chronic hepatitis/Active
Chronic liver disease
Emphysema/COPD/Chronic lung disease
Esophageal varices
Lung cystic disease/acquired
Neonatal hepatitis
Obstructive jaundice syndrome
Pancreatitis, chronic/recurrent
Sinusitis, chronic
Leg ulcers
Chronic Hepatitis
Disease Mechanism & Classification
CLASS/Chronic liver disease (ex)
CLASS/Lung Disorder (ex)
CLASS/Pulmonic (category)
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Single gene locus indentified
Pathophysiology/Bleeding from Portal Veins
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
Drug Therapy - Indication
RX/Alpha-1-Antitrypsin treatment
RX/Danazol (Danocrine)
RX/Directed Enzyme Replacement
SX/Lung transplant
Other Treatments
TX/Potential Stem Cell Research RX

Deficiency of the protease inhibitor ALPHA 1-ANTITRYPSIN, leading primarily to degradation of elastin of the alveolar walls, as well as other structural proteins of a variety of tissues; (The Metabolic and Molecular Bases of Inherited Disease, 7th ed, p4125)-----------------------------Alpha-1-Antitrypsin Deficiency; A1AD ; A1AT Deficiency; AAT; AAT Deficiency; Alpha-1 Antitrypsin Deficiency; Cholestasis, Neonatal; Familial Chronic Obstructive Lung Disease; Familial Emphysema;Hereditary Emphysema;Homozygous Alpha-1-Antitrypsin Deficiency ;PI;Pi Phenotype ZZ, Z- and --

Protease Inhibitor Deficiency; Serum Protease Inhibitor Deficiency; Alpha-1-Antitrypsin Deficiency (A1AD) is a hereditary disorder characterized by low levels of a protein called alpha-1-antitrypsin (A1AT) which is found in the blood; This deficiency may predispose an individual to several illnesses but most commonly appears as emphysema, less commonly as liver disease, or more rarely, as a skin condition called panniculitis; A deficiency of A1AT allows substances that break down protein (proteolytic enzymes) to attack various tissues of the body; This results in destructive changes in the lungs (emphysema) and may also affect the liver and joints; Alpha-1-Antitrypsin is ordinarily released by specialized, granular white blood cells (neutrophils) in response to infection or inflammation; A deficiency of Alpha-1-Antitrypsin results in unbalanced (relatively unopposed) rapid breakdown of proteins (protease activity), especially in the supporting elastic structures of the lungs; This destruction over many years leads to emphysema and is accelerated by smoking-------[ NORD 2005]---------


External Links Related to Alpha 1 antitrypsin deficiency
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)