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 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 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:

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

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