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Questions and Answers
Alpha-1 antitrypsin deficiency predominantly affects the heart and kidneys.
Alpha-1 antitrypsin deficiency predominantly affects the heart and kidneys.
False
Cirrhosis occurs in approximately 15% of adults with Alpha-1 antitrypsin deficiency.
Cirrhosis occurs in approximately 15% of adults with Alpha-1 antitrypsin deficiency.
True
Panlobular emphysema is a clinical presentation associated with Alpha-1 antitrypsin deficiency.
Panlobular emphysema is a clinical presentation associated with Alpha-1 antitrypsin deficiency.
True
Cholestasis is rarely observed in neonates with Alpha-1 antitrypsin deficiency.
Cholestasis is rarely observed in neonates with Alpha-1 antitrypsin deficiency.
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Subcutaneous necrotizing panniculitis is a rare manifestation of Alpha-1 antitrypsin deficiency.
Subcutaneous necrotizing panniculitis is a rare manifestation of Alpha-1 antitrypsin deficiency.
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Study Notes
Alpha-1 Antitrypsin Deficiency
- A hereditary metabolic disorder primarily affecting the lungs and liver.
- Lung Manifestations: Characterized by panlobular emphysema, often with a lower lung predominance. This is the most common presentation, typically in young and middle-aged adults. Bronchiectasis can also accompany the emphysema.
- Liver Manifestations: Cirrhosis develops in approximately 15% of adult patients. It can also potentially cause cholestasis in newborns.
- Vascular Manifestations: Aneurysms, particularly intracranial aneurysms.
- Skin Manifestations: Subcutaneous necrotizing panniculitis may occur.
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Other Systemic Associations:
- Pancreatitis
- Inflammatory bowel disease (IBD)
- Vasculitis (e.g., Wegener's)
- Hypothyroidism
- Glomerulonephritis
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Description
Explore the implications of Alpha-1 Antitrypsin Deficiency, a hereditary metabolic disorder that primarily affects the lungs and liver. This quiz covers the various manifestations including respiratory, hepatic, vascular, and skin-related issues, as well as other systemic associations. Test your knowledge on this rare disease and its broader impacts on health.
