Alpha 1-antitrypsin deficiency differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Overview

Alpha 1-antitrypsin deficiency has to be differentiated from other conditions with similar presentation like autoimmune hepatitis, bronchiectasis, bronchitis, chronic obstructive pulmonary disease (COPD),cystic fibrosis,emphysema,primary ciliary dyskinesia (Kartagener Syndrome),viral hepatitis.

Differentiating Alpha 1-antitrypsin deficiency from Other Diseases

Alpha 1-antitrypsin deficiency presents with symptoms of

Differential diagnosis of jaundice and Right upper quadrant abdominal pain includes

Jaundice and RUQ pain differential diagnosis are:

Classification of jaundice based on etiology Disease History and clinical manifestations Diagnosis Lab Findings Other blood tests Other diagnostic Family history Fever RUQ Pain Pruritis Hepatomegaly AST ALT ALK BLR Indirect BLR Direct Viral serology Jaundice Hepatocellular Jaundice Hemochromatosis + - -/+ - + ↑ ↑ ↑/N ↑/N N - Ferritin ↑ Liver biopsy Wilson's disease + - -/+ - + ↑ ↑ N ↑/N N - Serum cerulloplasmin ↑ Liver biopsy Alcoholic hepatitis - -/+ -/+ - + ↑↑ ↑ N ↑/N N - - - Cirrhosis -/+ -/+ -/+ - -/+ ↑ ↑ ↑/N ↑/N ↑/N -/+ Low platate Small liver on ultrasond Alpha 1-antitrypsin deficiency + -/+ -/+ - + ↑ ↑ ↑/N ↑/N ↑/N - Serum alpha1-antitrypsin levels decreased Hepatomegaly on CT Cholestatic Jaundice Common bile duct stone -/+ - + + -/+ N N ↑ N ↑ - Dilated ducts on sono CT/ERCP Hepatitis A cholestatic type - -/+ + + -/+ N N ↑ N ↑ + HAV- AB Abdominal ultrasound EBV / CMV hepatitis - -/+ + + -/+ N N ↑ N ↑ + Positive serology Primary biliary cirrhosis -/+ - -/+ + -/+ N/↑ N/↑ ↑ N ↑ - AMA positive Liver biopsy Primary sclerosing cholangitis -/+ - -/+ + -/+ N/↑ N/↑ ↑ N ↑ - Beading on MRCP Liver biopsy Pancreatic carcinoma + - -/+ - -/+ N/↑ N/↑ ↑ N ↑ - Mass on ultrasond CT scan for diagnosis

The differential diagnosis of jaundice, fever, and RUQ pain are:

Classification of jaundice based on etiology Disease History and clinical manifestations Diagnosis Lab Findings Other blood tests Other diagnostic Family history Fever RUQ Pain Pruritis Hepatomegaly AST ALT ALK BLR Indirect BLR Direct Viral serology Jaundice Hepatocellular Jaundice Alcoholic hepatitis - -/+ -/+ - + ↑↑ ↑ N ↑/N N - - - Cirrhosis -/+ -/+ -/+ - -/+ ↑ ↑ ↑/N ↑/N ↑/N -/+ Low platate Small liver on ultrasond Alpha 1-antitrypsin deficiency + -/+ -/+ - + ↑ ↑ ↑/N ↑/N ↑/N - Serum alpha1-antitrypsin levels decreased Hepatomegaly on CT Cholestatic Jaundice Hepatitis A cholestatic type - -/+ + + -/+ N N ↑ N ↑ + HAV- AB Abdominal ultrasound EBV / CMV hepatitis - -/+ + + -/+ N N ↑ N ↑ + Positive serology PCR or ELISA

Differential Diagnoses of Alpha 1-antitrypsin deficiency includes:

• Asthma
• Bronchiectasis
• Bronchitis
• Chronic Obstructive Pulmonary Disease (COPD)
• Cystic Fibrosis
• Emphysema
• Primary Ciliary Dyskinesia (Kartagener Syndrome)

References

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