Potential clues to the diagnosis of alpha-1 antitrypsin deficiency^[1,2]

Family history	AAT deficiency Emphysema Bronchiectasis Liver disease Panniculitis
Lung disease	Irreversible airflow limitation on spirometry Emphysema at a young age ≤45 Emphysema in the absence of smoking or occupational risk factor Emphysema characterized by predominant basilar changes on chest imaging Adult onset asthma (when airflow obstruction fails to reverse completely after bronchodilators) Unexplained bronchiectasis
Liver disease	Neonatal hepatitis Cirrhosis in both children and adults Hepatocellular carcinoma Hepatomegaly Unexplained liver disease
Skin disease	Necrotizing panniculitis (thigh, buttocks)
Other associations	ANCA-associated vasculitis
Abnormal laboratory tests	Persistent mild to moderate ↑ALT, ↑AST Low alpha₁-globulin or presence of two bands in alpha₁ globulin region on SPEP

AAT: alpha-1 antitrypsin; ANCA: Antineutrophil cytoplasmic antibodies; ALT: alanine aminotransferase; AST: aspartate aminotransferase; SPEP: serum protein electrophoresis.

References:

American Thoracic Society; European Respiratory Society. American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med 2003; 168:818.
Miravitlles M, Dirksen A, Ferrarotti I, et al. European Respiratory Society statement: diagnosis and treatment of pulmonary disease in alpha-1 antitrypsin deficiency. Eur Respir J 2017; 50:pii:1700610.

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خرید پکیج

Potential clues to the diagnosis of alpha-1 antitrypsin deficiency[1,2]

Potential clues to the diagnosis of alpha-1 antitrypsin deficiency^[1,2]