Alpha 1-antitrypsin deficiency differential diagnosis: Difference between revisions

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{{Alpha 1-antitrypsin deficiency}}
__NOTOC__
{{CMG}}; '''Associate Editor-In-Chief:''' {{CZ}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Alpha_1-antitrypsin_deficiency]]
{{CMG}}; {{AE}} {{Mazia}}


==Overview==
==Overview==
Alpha 1-antitrypsin deficiency (A1AD) may present in a physical examination of the lungs as emphysema, liver dysfunction, and panniculitis in the skin.
Alpha 1-antitrypsin deficiency has to be differentiated from other conditions with similar presentation like [[autoimmune hepatitis]], [[bronchiectasis]], [[bronchitis]], [[Chronic obstructive pulmonary disease|chronic obstructive pulmonary disease (COPD)]], [[cystic fibrosis]], [[emphysema]], [[primary ciliary dyskinesia]] ([[Kartagener's Syndrome|Kartagener Syndrome]]), [[viral hepatitis]].


==Differential Diagnosis==
==Differentiating Alpha 1-antitrypsin deficiency from Other Diseases==
* Adult [[hepatitis]] or [[cirrhosis]] of unclear origin
Alpha 1-antitrypsin deficiency presents with symptoms of [[emphysema]] associated with compromised [[Liver function tests abnormality|liver function tests]] and/or [[cirrhosis]]. Differential diagnosis of jaundice and RUQ pain includes:
* Adult pulmonary [[emphysema]]
* [[Cachexia]]
* [[Hepatitis]] of unclear origin in children
* Hereditary, [[autosomal recessive]] [[Alpha-1 Antitrypsin Deficiency|alpha-1 antitrypsin deficiency]]
* [[Malnutrition]]
* [[Nephrotic Syndrome]]
* Nonphysiologic neonatal [[jaundice]]


==Associated Conditions==
'''Jaundice and RUQ pain differential diagnosis are:'''
α<sub>1</sub>-antitrypsin deficiency has been associated with a number of diseases:
 
* [[COPD]]
{| align="center"
* [[Asthma]]
|-
* [[Wegener's granulomatosis]]
|
* [[Pancreatitis]]
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
* [[Gallstone]]s
! colspan="2" rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" |Classification of jaundice based on etiology
* [[Bronchiectasis]] (possibly)
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" |Disease
* [[Prolapse]][http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstract&list_uids=14983422]
! colspan="5" rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" |History and clinical manifestations
* [[Primary sclerosing cholangitis]]
! colspan="8" style="background:#4479BA; color: #FFFFFF;" align="center" |Diagnosis
* [[Autoimmune hepatitis]]
|-
* [[Emphysema]]
! colspan="6" style="background:#4479BA; color: #FFFFFF;" align="center" |Lab Findings
* [[Cancer]]
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" |Other blood tests
** [[Hepatocellular carcinoma]] (liver)
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" |Other diagnostic
** [[Bladder carcinoma]]
|-
** [[Gallbladder cancer]]
! rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |Family history
** [[Lymphoma]]
! style="background:#4479BA; color: #FFFFFF;" align="center" |Fever
** [[Lung cancer]]
! style="background:#4479BA; color: #FFFFFF;" align="center" |RUQ Pain
! style="background:#4479BA; color: #FFFFFF;" align="center" |Pruritis
! style="background:#4479BA; color: #FFFFFF;" align="center" |Hepatomegaly
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |AST
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |ALT
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |ALK
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |BLR Indirect
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |BLR Direct
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |Viral serology
|-
! rowspan="12" style="background:#4479BA; color: #FFFFFF;" align="center" |Jaundice
! colspan="1" rowspan="5" style="padding: 5px 5px; background: #DCDCDC;" align="center" | [[Hepatocellular Disease|Hepatocellular Jaundice]]
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Hemochromatosis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑/N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑/N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Ferritin]] ↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Wilson's disease]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑/N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Ceruloplasmin|Serum cerulloplasmin]] ↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Alcoholic hepatitis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑/N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Cirrhosis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑/N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑/N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑/N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Thrombocytopenia]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver|hypotrophied liver on ultrasound]]
|-
![[Alpha 1-antitrypsin deficiency]]
!+
!-/+
!-/+
!-
!+
!↑
!↑
!↑/N
!↑/N
!↑/N
!-
![[Alpha1 antitrypsin|Serum alpha1-antitrypsin levels]] decreased
![[Hepatomegaly]] on [[CT-scans|CT]]
|-
! rowspan="6" style="padding: 5px 5px; background: #DCDCDC;" align="center" | [[Cholestatic]] [[Jaundice]]
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Bile duct|Common bile duct stone]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Dilated ducts on [[sonography]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[CT]]/[[ERCP]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Hepatitis A]] [[Cholestatic|cholestatic type]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[HAV infection|HAV- AB]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Ultrasound|Abdominal ultrasound]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Epstein Barr virus|EBV]] / [[CMV infection|CMV]] [[hepatitis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Serology|Positive serology]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Primary biliary cirrhosis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N/↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N/↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Anti-mitochondrial antibody|AMA positive]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Primary sclerosing cholangitis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N/↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N/↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Beading on [[Magnetic resonance cholangiopancreatography|MRCP]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Pancreatic carcinoma]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N/↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N/↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Mass on [[ultrasound]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[CT scanning|CT scan]] for [[diagnosis]]
|-
|}
|}
 
'''The differential diagnosis of jaundice, fever, and RUQ pain are:'''
 
{| align="center"
|-
|
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
! colspan="2" rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" |Classification of jaundice based on etiology
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" |Disease
! colspan="5" rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" |History and clinical manifestations
! colspan="8" style="background:#4479BA; color: #FFFFFF;" align="center" |Diagnosis
|-
! colspan="6" style="background:#4479BA; color: #FFFFFF;" align="center" |Lab Findings
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" |Other blood tests
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" |Other diagnostic
|-
! rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |Family history
! style="background:#4479BA; color: #FFFFFF;" align="center" |Fever
! style="background:#4479BA; color: #FFFFFF;" align="center" |RUQ Pain
! style="background:#4479BA; color: #FFFFFF;" align="center" |Pruritis
!Hepatomegaly
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |AST
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |ALT
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |ALK
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |BLR Indirect
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |BLR Direct
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |Viral serology
|-
! rowspan="6" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Jaundice]]
! rowspan="3" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Jaundice|Hepatocellular Jaundice]]
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Alcoholic hepatitis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑/N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Cirrhosis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑/N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑/N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑/N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Thrombocytopenia]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver|Small liver]] on [[ultrasound]]
|-
![[Alpha 1-antitrypsin deficiency]]
!+
!-/+
!-/+
!-
!+
!↑
!↑
!↑/N
!↑/N
!↑/N
!-
!Serum [[Alpha1-antitrypsin deficiency|alpha1-antitrypsin]] levels decreased
![[Hepatomegaly]] on [[CT]]
|-
! rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Cholestatic]] [[Jaundice]]
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Hepatitis]] A [[Cholestatic|cholestatic type]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[HAV infection|HAV- AB]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Ultrasound|Abdominal ultrasound]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Epstein Barr virus|EBV]] / [[CMV|CMV hepatitis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Positive [[serology]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[PCR]] or [[Enzyme linked immunosorbent assay (ELISA)|ELISA]]
|-
|}
|}
[[Differential diagnosis]] of [[cough]] with [[Wheezing|wheezes]] is :
{| class="wikitable"
! rowspan="2" |Diseases
! colspan="2" |Symptoms
!
! colspan="3" |Signs
! colspan="2" |Diagosis
|-
!Fever
!Cough
!Chest pain
!Wheezes
!Crackles
!Tachypnea
!Lab tests
!Imaging
|-
|[[Asthma]]
|<nowiki>-</nowiki>
|Dry/Productive
| -
|<nowiki>+</nowiki>
| -
| +
|
* Lab tests to exclude other [[Disease|diseases]].
* Serum examination shows elevated level of [[Eosinophil|eosinophils]] due to [[allergy]]. 
|
* [[CT scan]] shows:
** Dilated [[bronchi]].
** Bronchial wall thickening.
** Air trapping.
|-
|[[Bronchiolitis]]
| +/-
|Dry
|<nowiki>-</nowiki>
|<nowiki>+</nowiki>
| +
| +/-
|
* [[ELISA]] and [[immunoassays]] may be done in case of [[RSV]] [[infection]].
* [[Pulmonary function test]] to exclude other [[lung diseases]].<ref name="pmid18339530">{{cite journal| author=Ghanei M, Tazelaar HD, Chilosi M, Harandi AA, Peyman M, Akbari HM et al.| title=An international collaborative pathologic study of surgical lung biopsies from mustard gas-exposed patients. | journal=Respir Med | year= 2008 | volume= 102 | issue= 6 | pages= 825-30 | pmid=18339530 | doi=10.1016/j.rmed.2008.01.016 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18339530  }} </ref>
|
* [[CT scan]] shows:
** Intense [[Bronchiolar epithelium|bronchiolar]] mural [[inflammation]]
** [[bronchial]] wall thickening.
** Centrilobular [[nodules]] with tree-in-bud pattern. 
|-
|[[COPD]]
|<nowiki>+</nowiki>
|Productive
|<nowiki>-</nowiki>
| +
| +
| +
|
* [[Spirometry]]: [[FEV1/FVC ratio|FEV1/FVC]] < 70%.
* Arterial blood gases: [[hypoxemia]] and [[hypercapnia]].
* [[Sputum culture]]
|
* EKG may show:
** [[P pulmonale]].
** [[right ventricular hypertrophy]].
** Narrow QRS.<ref name="pmid23653989">{{cite journal| author=Lazović B, Svenda MZ, Mazić S, Stajić Z, Delić M| title=Analysis of electrocardiogram in chronic obstructive pulmonary disease patients. | journal=Med Pregl | year= 2013 | volume= 66 | issue= 3-4 | pages= 126-9 | pmid=23653989 | doi= | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23653989  }} </ref>
* CT scan is more sensitive in diagnosing COPD than X ray. 
|-
|[[Bacterial pneumonia]]
|<nowiki>+</nowiki>
|[[Productive cough|Productive]]
| +
| +
| +
| +/-
|
* Diagnosis depends on presentation and physical examination.
* Laboratory tests:
** [[arterial blood gases]] may show [[hypoxia]] and [[acidosis]].
** [[Sputum culture]].
|
* X ray is performed to detect:
** [[pleural effusion]].
** Inflitrates within the [[lungs]].
* CT scan shows:
** [[Consolidation (medicine)|Consolidation]].
** Ground glass appearance.
|-
|[[Cystic Fibrosis]]
| +/-
|[[Productive cough|Productive]]
| +/-
| -
| -
| +
|[[Cystic fibrosis]] transmembrane conductance regulator (CFTR) dysfunction evidenced by :
* Elevated [[Sweat chloride test|sweat chloride]] ≥60 mmol/L (on two occasions).
 
* Presence of two disease-causing [[mutations]] in CFTR, one from each [[Allele|parental allele]].
 
* Abnormal [[Potential difference|nasal potential difference]].
|[[X-ray]] :
 
Hyperinflation presents as:
* Flattening of the [[diaphragm]].
 
* Anterior bowing of the infant [[sternum]].
* Increased retrosternal air space.
 
* Generalized [[pulmonary]] overinflation.
* Multiple nodular densities represent [[Mucus|mucus plugging]] and may present in finger-in-glove shape or as a combination of V- or Y-shaped branching and bandlike shadows.
Abdominal findings include dilated multiple loops of the [[small bowel]] are seen in [[Meconium ileus|neonatal meconium ileus]].
|-
|[[Emphysema]]
| +/-
|[[Productive cough|Productive]]
| -
| +
| +/-
| +
|
* [[Arterial blood gases|Arterial blood gas analysis]]: mild-to-moderate [[hypoxemia]] without [[hypercapnia]] that progresses to worsening [[hypoxemia]]  and [[hypercapnia]] develops.
 
* Chronic [[hypoxemia]] may lead to [[polycythemia]].
* [[Sputum]] is mucoid and the predominant cells are [[macrophages]].
|[[Chest X-rays|Chest X-ray]] reveals signs of [[emphysema]] include:
* Flattening of [[diaphragm]].
 
* Increased retrosternal air space (see on lateral chest films).
 
* A long narrow [[heart]] shadow.
 
* Tapering vascular shadows.
 
* Hyperlucency of the [[lungs]].
|-
|[[Primary ciliary dyskinesia|Primary Ciliary Dyskinesia]] ([[Kartagener's Syndrome|Kartagener Syndrome]])
| +/-
|[[Productive cough|Productive]]
| -
| +
| +
| +
|
* Low or absent amount of nasal [[nitric oxide]] (nNO).
* [[Mucociliary clearance]] may be useful for [[screening]].
* Confirmation with tests of ciliary function.
|[[Chest X-rays|Chest X-ray]] reveals :
* [[Bronchial]] wall thickening.
* [[Bronchiectasis]] and hyperinflation.
* Cystic [[bronchiectasis]] with air-fluid levels may be visible.
* Usually involves the lower and middle lobes.
|-
|[[Alpha 1-antitrypsin deficiency]]
| +/-
|[[Productive cough|Productive]]
| -
| +
| +
| +
|
* Reduced concentration of serum [[Alpha1 antitrypsin|alpha1-antitrypsin levels]] is diagnostic of AATD.
* Moderate-to-severe airflow obstruction with an [[FEV1]].
* Reduced [[vital capacity]].
* Increased [[lung volumes]] secondary to air trapping ([[residual volume]] >120% of predicted value) are usually present.
|[[Chest X-rays|Chest X-ray]] Alpha1-antitrypsin deficiency (AATD) [[emphysema]] presents as:
* a hyperlucent appearance because healthy tissue has been destroyed.
* Affected regions also are described as oligemic because they lack the normal rich pattern of branching blood vessels.
* An unusual characteristic in alpha1-antitrypsin deficiency is found in about 60% of PiZZ patients is a striking basilar distribution.
* In contrast, [[cigarette smoking]] is associated with more severe apical disease.
|}
 
AATD can present as [[neonatal jaundice]]. The differential diagnosis for [[neonatal jaundice]] is: <ref name="pmid28145671">{{cite journal |vauthors=Fargo MV, Grogan SP, Saguil A |title=Evaluation of Jaundice in Adults |journal=Am Fam Physician |volume=95 |issue=3 |pages=164–168 |year=2017 |pmid=28145671 |doi= |url=}}</ref>
 
{| align="center"
|-
|
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" |Etiology Of Neonatal Jaundice
! colspan="4" rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" |History and clinical manifestations
! colspan="8" style="background:#4479BA; color: #FFFFFF;" align="center" |Diagnosis
|-
! colspan="6" style="background:#4479BA; color: #FFFFFF;" align="center" |Lab Findings
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" |Other blood tests
! rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" |Other diagnostic
|-
! rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |Family history
! style="background:#4479BA; color: #FFFFFF;" align="center" |Fever
! style="background:#4479BA; color: #FFFFFF;" align="center" |RUQ Pain
! style="background:#4479BA; color: #FFFFFF;" align="center" |Pruritis
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |AST
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |ALT
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |ALK
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |BLR Indirect
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |BLR Direct
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |Viral serology
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Alpha 1-antitrypsin deficiency|Alpha-1 antitrypsin deficiency]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Breast feeding]] failure [[jaundice]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Breast-feeding|Breast Milk]] [[Jaundice]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |<nowiki>-</nowiki>
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Crigler-Najjar Syndrome|Crigler-Najjar type 2]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Gilbert's Syndrome|Gilbert Syndrome]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Rotor syndrome]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Dubin-Johnson syndrome]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Hereditary spherocytosis|Hereditory spherocytosis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Osmotic|Osmotic fragility]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[G6PD deficiency]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Thalassemia]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Sickle cell disease]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Immune]] [[hemolysis]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -/+
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Autoantibodies]]
|-
|}
|}


==References==
==References==
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Latest revision as of 18:01, 9 April 2019

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mazia Fatima, MBBS [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 emphysema associated with compromised liver function tests and/or cirrhosis. Differential diagnosis of jaundice and RUQ 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 -/+ Thrombocytopenia hypotrophied liver on ultrasound
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 sonography 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 ultrasound 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 -/+ Thrombocytopenia Small liver on ultrasound
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 diagnosis of cough with wheezes is :

Diseases Symptoms Signs Diagosis
Fever Cough Chest pain Wheezes Crackles Tachypnea Lab tests Imaging
Asthma - Dry/Productive - + - +
  • CT scan shows:
    • Dilated bronchi.
    • Bronchial wall thickening.
    • Air trapping.
Bronchiolitis +/- Dry - + + +/-
COPD + Productive - + + +
Bacterial pneumonia + Productive + + + +/-
Cystic Fibrosis +/- Productive +/- - - + Cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction evidenced by : X-ray :

Hyperinflation presents as:

  • Anterior bowing of the infant sternum.
  • Increased retrosternal air space.
  • Generalized pulmonary overinflation.
  • Multiple nodular densities represent mucus plugging and may present in finger-in-glove shape or as a combination of V- or Y-shaped branching and bandlike shadows.

Abdominal findings include dilated multiple loops of the small bowel are seen in neonatal meconium ileus.

Emphysema +/- Productive - + +/- + Chest X-ray reveals signs of emphysema include:
  • Increased retrosternal air space (see on lateral chest films).
  • A long narrow heart shadow.
  • Tapering vascular shadows.
  • Hyperlucency of the lungs.
Primary Ciliary Dyskinesia (Kartagener Syndrome) +/- Productive - + + + Chest X-ray reveals :
Alpha 1-antitrypsin deficiency +/- Productive - + + + Chest X-ray Alpha1-antitrypsin deficiency (AATD) emphysema presents as:
  • a hyperlucent appearance because healthy tissue has been destroyed.
  • Affected regions also are described as oligemic because they lack the normal rich pattern of branching blood vessels.
  • An unusual characteristic in alpha1-antitrypsin deficiency is found in about 60% of PiZZ patients is a striking basilar distribution.
  • In contrast, cigarette smoking is associated with more severe apical disease.

AATD can present as neonatal jaundice. The differential diagnosis for neonatal jaundice is: [3]

Etiology Of Neonatal Jaundice 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
Alpha-1 antitrypsin deficiency + -/+ -/+ - N - Genetic testing Liver biopsy
Breast feeding failure jaundice - - - - - - - - - - -
Breast Milk Jaundice - - - - - - - - - - -
Crigler-Najjar type 2 + - - - N N N - Genetic testing
Gilbert Syndrome + - - - N N N - Genetic testing
Rotor syndrome + - - - N N N N - Genetic testing Liver biopsy
Dubin-Johnson syndrome + - - - N N N N - Genetic testing Liver biopsy
Hereditory spherocytosis + - -/+ - N N N N - Genetic testing Osmotic fragility
G6PD deficiency + - - - N N N N - Genetic testing
Thalassemia + - - - N N N N - Genetic testing
Sickle cell disease + - - - N N N N - Genetic testing
Immune hemolysis - -/+ - - N N N N - Autoantibodies

References

  1. Ghanei M, Tazelaar HD, Chilosi M, Harandi AA, Peyman M, Akbari HM; et al. (2008). "An international collaborative pathologic study of surgical lung biopsies from mustard gas-exposed patients". Respir Med. 102 (6): 825–30. doi:10.1016/j.rmed.2008.01.016. PMID 18339530.
  2. Lazović B, Svenda MZ, Mazić S, Stajić Z, Delić M (2013). "Analysis of electrocardiogram in chronic obstructive pulmonary disease patients". Med Pregl. 66 (3–4): 126–9. PMID 23653989.
  3. Fargo MV, Grogan SP, Saguil A (2017). "Evaluation of Jaundice in Adults". Am Fam Physician. 95 (3): 164–168. PMID 28145671.


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