Alpha 1-antitrypsin deficiency differential diagnosis: Difference between revisions

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


==Overview==
==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.
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]].


==Differentiating Alpha 1-antitrypsin deficiency from Other Diseases==
==Differentiating Alpha 1-antitrypsin deficiency from Other Diseases==
Alpha 1-antitrypsin deficiency presents with symptoms of  
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:
 
Differential diagnosis of jaundice and Right upper quadrant abdominal pain includes


'''Jaundice and RUQ pain differential diagnosis are:'''
'''Jaundice and RUQ pain differential diagnosis are:'''
Line 30: Line 28:
! style="background:#4479BA; color: #FFFFFF;" align="center" |RUQ Pain
! style="background:#4479BA; color: #FFFFFF;" align="center" |RUQ Pain
! style="background:#4479BA; color: #FFFFFF;" align="center" |Pruritis
! style="background:#4479BA; color: #FFFFFF;" align="center" |Pruritis
!Hepatomegaly
! 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" |AST
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |ALT
! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |ALT
Line 39: Line 37:
|-
|-
! rowspan="12" style="background:#4479BA; color: #FFFFFF;" align="center" |Jaundice
! rowspan="12" style="background:#4479BA; color: #FFFFFF;" align="center" |Jaundice
! colspan="1" rowspan="5" style="padding: 5px 5px; background: #DCDCDC;" align="center" | Hepatocellular 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
| 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" | -
Line 52: Line 50:
| 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" |Ferritin ↑  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Ferritin]] ↑  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Liver biopsy
| 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
| 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" | -
Line 67: Line 65:
| 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" |Serum cerulloplasmin ↑
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Ceruloplasmin|Serum cerulloplasmin]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Liver biopsy
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Alcoholic hepatitis
| 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" | -/+
Line 85: Line 83:
| 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
| 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" | -/+
Line 97: Line 95:
| 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" |Low platate
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Thrombocytopenia]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Small liver on ultrasond
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver|hypotrophied liver on ultrasound]]
|-
|-
!Alpha 1-antitrypsin deficiency
![[Alpha 1-antitrypsin deficiency]]
!+
!+
!-/+
!-/+
Line 112: Line 110:
!↑/N
!↑/N
!-
!-
!Serum alpha1-antitrypsin levels decreased
![[Alpha1 antitrypsin|Serum alpha1-antitrypsin levels]] decreased
!Hepatomegaly on CT
![[Hepatomegaly]] on [[CT-scans|CT]]
|-
|-
! rowspan="6" style="padding: 5px 5px; background: #DCDCDC;" align="center" | Cholestatic Jaundice
! rowspan="6" style="padding: 5px 5px; background: #DCDCDC;" align="center" | [[Cholestatic]] [[Jaundice]]
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Common bile duct stone
| 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" | -
Line 128: Line 126:
| 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" |Dilated ducts on sono
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Dilated ducts on [[sonography]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |CT/ERCP
| 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 type
| 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" | -/+
Line 143: Line 141:
| 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" |HAV- AB
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[HAV infection|HAV- AB]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Abdominal ultrasound
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Ultrasound|Abdominal ultrasound]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |EBV / CMV hepatitis
| 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" | -/+
Line 158: Line 156:
| 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" |Positive serology
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Serology|Positive serology]]
| 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" |Primary biliary cirrhosis
| 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" | -
Line 173: Line 171:
| 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" |AMA positive
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Anti-mitochondrial antibody|AMA positive]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Liver biopsy
| 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
| 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" | -
Line 188: Line 186:
| 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" |Beading on MRCP  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Beading on [[Magnetic resonance cholangiopancreatography|MRCP]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Liver biopsy
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver biopsy]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Pancreatic carcinoma
| 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" | -
Line 203: Line 201:
| 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" |Mass on ultrasond
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Mass on [[ultrasound]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |CT scan for diagnosis
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[CT scanning|CT scan]] for [[diagnosis]]
|-
|-
|}
|}
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! colspan="1" rowspan="1" style="background:#4479BA; color: #FFFFFF;" align="center" |Viral serology
! 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="6" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Jaundice]]
! rowspan="3" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Hepatocellular 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
| 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" | -/+
Line 253: Line 251:
| 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
| 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" | -/+
Line 265: Line 263:
| 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" |Low platate
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Thrombocytopenia]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Small liver on ultrasond
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Liver|Small liver]] on [[ultrasound]]
|-
|-
!Alpha 1-antitrypsin deficiency
![[Alpha 1-antitrypsin deficiency]]
!+
!+
!-/+
!-/+
Line 280: Line 278:
!↑/N
!↑/N
!-
!-
!Serum alpha1-antitrypsin levels decreased
!Serum [[Alpha1-antitrypsin deficiency|alpha1-antitrypsin]] levels decreased
!Hepatomegaly on CT
![[Hepatomegaly]] on [[CT]]
|-
|-
! rowspan="2" style="padding: 5px 5px; background: #DCDCDC;" align="center" |Cholestatic Jaundice
! 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 type
| 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" | -/+
Line 296: Line 294:
| 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" |HAV- AB
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[HAV infection|HAV- AB]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Abdominal ultrasound
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Ultrasound|Abdominal ultrasound]]
|-
|-
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |EBV / CMV hepatitis
| 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" | -/+
Line 311: Line 309:
| 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" |Positive serology
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |Positive [[serology]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |PCR or ELISA
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[PCR]] or [[Enzyme linked immunosorbent assay (ELISA)|ELISA]]
|-
|-
|}
|}
|}
|}
 
[[Differential diagnosis]] of [[cough]] with [[Wheezing|wheezes]] is :
Differential Diagnoses of Alpha 1-antitrypsin deficiency includes:
* Asthma
* Bronchiectasis
* Bronchitis
* Chronic Obstructive Pulmonary Disease (COPD)
* Cystic Fibrosis
* Emphysema
* Primary Ciliary Dyskinesia (Kartagener Syndrome)
 
{| class="wikitable"
{| class="wikitable"
! rowspan="2" |Diseases
! rowspan="2" |Diseases
Line 338: Line 327:
!Wheezes
!Wheezes
!Crackles
!Crackles
!Tachycardia
!Tachypnea
!Lab tests
!Lab tests
!Imaging  
!Imaging  
Line 348: Line 337:
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
| -
| -
| -
| +
|
|
* Lab tests to exclude other [[Disease|diseases]]
* Lab tests to exclude other [[Disease|diseases]].
* Serum examination shows elevated level of [[Eosinophil|eosinophils]] due to [[allergy]]   
* Serum examination shows elevated level of [[Eosinophil|eosinophils]] due to [[allergy]].    
|
|
* [[CT scan]] shows:  
* [[CT scan]] shows:  
** Dilated [[bronchi]]
** Dilated [[bronchi]].
** Bronchial wall thickening
** Bronchial wall thickening.
** Air trapping
** Air trapping.
|-
|-
|[[Bronchiolitis]]
|[[Bronchiolitis]]
Line 366: Line 355:
| +/-
| +/-
|
|
* [[ELISA]] and [[immunoassays]] may be done in case of [[RSV]] [[infection]]  
* [[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>
* [[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:
* [[CT scan]] shows:
** Intense [[Bronchiolar epithelium|bronchiolar]] mural [[inflammation]]   
** Intense [[Bronchiolar epithelium|bronchiolar]] mural [[inflammation]].  
** [[bronchial]] wall thickening  
** [[bronchial]] wall thickening.
** Centrilobular [[nodules]] with tree-in-bud pattern   
** Centrilobular [[nodules]] with tree-in-bud pattern.  
|-
|-
|[[COPD]]
|[[COPD]]
Line 382: Line 371:
| +
| +
|
|
* [[Spirometry]]: [[FEV1/FVC ratio|FEV1/FVC]] < 70%
* [[Spirometry]]: [[FEV1/FVC ratio|FEV1/FVC]] < 70%.
* Arterial blood gases: [[hypoxemia]] and [[hypercapnia]]
* Arterial blood gases: [[hypoxemia]] and [[hypercapnia]].
* [[Sputum culture]]   
* [[Sputum culture]].  
|
|
* EKG may show:
* EKG may show:
** [[P pulmonale]]  
** [[P pulmonale]].
** [[right ventricular hypertrophy]]  
** [[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>  
** 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   
* CT scan is more sensitive in diagnosing COPD than X ray.  
|-
|-
|[[Bacterial pneumonia]]  
|[[Bacterial pneumonia]]  
|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
|Productive
|[[Productive cough|Productive]]
| +
| +
| +
| +
Line 400: Line 389:
| +/-
| +/-
|
|
* Diagnosis depends on presentation and physical examination  
* Diagnosis depends on presentation and physical examination.
* Laboratory tests
* Laboratory tests:
** [[arterial blood gases]] may show [[hypoxia]] and [[acidosis]]  
** [[arterial blood gases]] may show [[hypoxia]] and [[acidosis]].
** [[Sputum culture]]
** [[Sputum culture]].
|
|
* X ray is performed to detect:
* X ray is performed to detect:
** [[pleural effusion]]  
** [[pleural effusion]].
** Inflitrates within the [[lungs]].  
** Inflitrates within the [[lungs]].  
* CT scan shows:  
* CT scan shows:  
** [[Consolidation (medicine)|Consolidation]]  
** [[Consolidation (medicine)|Consolidation]].
** Ground glass appearance  
** Ground glass appearance.
|-
|-
|[[Pulmonary embolism]]
|[[Cystic Fibrosis]]
| +/-
|[[Productive cough|Productive]]  
| +/-
| +/-
|Bloody
| +
| +
| +
| +
|
* Arterial blood gases may show:<ref name="pmid2491801">{{cite journal |author=Cvitanic O, Marino PL |title=Improved use of arterial blood gas analysis in suspected pulmonary embolism |journal=[[Chest]] |volume=95 |issue=1 |pages=48–51 |year=1989 |month=January |pmid=2491801 |doi= |url=http://www.chestjournal.org/cgi/pmidlookup?view=long&pmid=2491801 |accessdate=2012-04-30}}</ref>
**[[Hypoxemia]]
**[[Hypocapnia]]
**[[Respiratory alkalosis]]
**Increased alveolar-arterial gradient
*[[D-dimer]] assay to rule out other diseases like [[DVT]]
* [[Hypercoagulability]] tests for patients with:
** Unprovoked [[venous thrombosis]] at an early age (< 40 years)
** Family history of [[VTE]] syndromes
*Routine blood tests are non specific
|
* CT [[pulmonary angiography]] is the gold standard imaging to diagnose pulmonary embolism. CT may show:
**Acute:Centrally located [[thrombus]] occluding the vessel
**Chronic:Eccentric changes in the [[vessel wall]], recanalization in the thrombous and arterial web
* EKG is not specific or sensitive in PE diagnosis but it may show:
** [[T wave inversion]]
** [[P pulmonale]]
** [[sinus tachycardia]]
* Chest X ray to exclude other differentials
|-
|Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia<ref name="pmid21471097">{{cite journal| author=Nassar AA, Jaroszewski DE, Helmers RA, Colby TV, Patel BM, Mookadam F| title=Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia: a systematic overview. | journal=Am J Respir Crit Care Med | year= 2011 | volume= 184 | issue= 1 | pages= 8-16 | pmid=21471097 | doi=10.1164/rccm.201010-1685PP | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21471097  }} </ref>
| -
| -
|Dry
| -
| -
| +
| +
|[[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]]
| -
| -
| -
|
* Pulmonary function test shows obstructive lung disease
|
* CT scan may show:
** Multiple [[nodules]]
** [[Ground glass opacification on CT|Ground glass]] appearance
** [[Bronchiectasis]].
|-
|[[Tuberculosis]]
| +
| +
|Bloody
| +/-
| +
| +
| -
| -
| -
|
|
* Sputum culture:
* [[Arterial blood gases|Arterial blood gas analysis]]: mild-to-moderate [[hypoxemia]] without [[hypercapnia]] that progresses to worsening [[hypoxemia]]  and [[hypercapnia]] develops.
** Three successive positive culture for [[Mycobacterium tuberculosis|M. tuberculosis]] confirms the diagnosis<ref name="pmid12614730">{{cite journal |author=Drobniewski F, Caws M, Gibson A, Young D |title=Modern laboratory diagnosis of tuberculosis |journal=Lancet Infect Dis |volume=3 |issue=3 |pages=141-7 |year=2003 |id=PMID 12614730}}</ref>
 
** Presence of acid fast bacilli in sputum smear indicates high extent tuberculosis
* Chronic [[hypoxemia]] may lead to [[polycythemia]].
|
* [[Sputum]] is mucoid and the predominant cells are [[macrophages]].
* Chest X ray is an important diagnostic imaging procedure in TB diagnosis. X ray may show:<ref>{{Cite journal
|[[Chest X-rays|Chest X-ray]] reveals signs of [[emphysema]] include:
| author = [[Riccardo Piccazzo]], [[Francesco Paparo]] & [[Giacomo Garlaschi]]
* Flattening of [[diaphragm]].
| title = Diagnostic accuracy of chest radiography for the diagnosis of tuberculosis (TB) and its role in the detection of latent TB infection: a systematic review
 
| journal = [[The Journal of rheumatology. Supplement]]
* Increased retrosternal air space (see on lateral chest films).
| volume = 91
 
| pages = 32–40
* A long narrow [[heart]] shadow.
| year = 2014
| month = May
| doi = 10.3899/jrheum.140100
| pmid = 24788998
}}</ref>
** Parenchymal infilration
** Hilar [[adenopathy]]
**[[Nodules]]  
**[[Pleural effusion (patient information)|Pleural effusion]]


* CT scan may show:<ref>{{Cite journal
* Tapering vascular shadows.  
| author = [[Jeong Min Ko]], [[Hyun Jin Park]] & [[Chi Hong Kim]]
| title = Pulmonary Changes of Pleural Tuberculosis: Up-to-Date CT Imaging
| journal = [[Chest]]
| year = 2014
| month = June
| doi = 10.1378/chest.14-0196
| pmid = 25086249
}}</ref>
** Micronodules
** [[Cavitation]]
** [[Consolidation (medicine)|Consolidation]]
**Interlobular septal thickening
*EKG may have abnormalities in case pleural effussion associated with TB.  


* Hyperlucency of the [[lungs]].
|-
|-
|[[Hamman-Rich syndrome|Interstitial pneumonitis]] (Hamman - Rich syndrome)  
|[[Primary ciliary dyskinesia|Primary Ciliary Dyskinesia]] ([[Kartagener's Syndrome|Kartagener Syndrome]])  
|<nowiki>+</nowiki>
| +/-
|Productive  
|[[Productive cough|Productive]]
| -
| -
| -
| +
| +
| -
| +
|
| +
* Arterial blood gases may show:
** [[hypoxemia]]
** PaO2/FiO2 less than 200 mmHg indicating [[acute respiratory distress syndrome]]
* Other lab tests are done to exclude other diseases
|
|
* Chest X ray may show:
* Low or absent amount of nasal [[nitric oxide]] (nNO).
** Bilateral airway opacification
* [[Mucociliary clearance]] may be useful for [[screening]].
* CT scan may show
* Confirmation with tests of ciliary function.
** [[Ground glass opacification on CT|Ground glass]] appearance.
|[[Chest X-rays|Chest X-ray]] reveals :
* [[Bronchoscopy]] to exclude other causes such as:
* [[Bronchial]] wall thickening.
** [[alveolar]] [[hemorrhage]]  
* [[Bronchiectasis]] and hyperinflation.
** [[lymphoma]].
* Cystic [[bronchiectasis]] with air-fluid levels may be visible.
* Lung biopsy is done:
* Usually involves the lower and middle lobes.
** In unclear cases; to confirm [[Interstitial pneumonitis|acute interstitial pneumonitis]]  
** Exclude other causes of [[Acute respiratory distress syndrome|ARDS]]
|-
|-
|[[Foreign body aspiration]]
|[[Alpha 1-antitrypsin deficiency]]
| +/-
|[[Productive cough|Productive]]
| -
| +
| +
| +
|Bloody
|<nowiki>+</nowiki>
| +
| +
| -
| -
|
|
* Lab tests to evaluate the [[ventilation]] function
* 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"
|-
|
|
* Chest X ray shows:
{| style="border: 0px; font-size: 90%; margin: 3px;" align="center"
** Hyperinflation
! rowspan="3" style="background:#4479BA; color: #FFFFFF;" align="center" |Etiology Of Neonatal Jaundice
** Mediastinal shift 
! colspan="4" rowspan="2" style="background:#4479BA; color: #FFFFFF;" align="center" |History and clinical manifestations
** [[atelectasis|Aatelectasis]]  
! 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]]
|-
|-
|[[Pertussis]]  
| colspan="1" rowspan="1" style="padding: 5px 5px; background: #DCDCDC;" align="center" |[[Thalassemia]]
| +
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | +
|Dry
| 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
* Nasopharyngeal swab for [[Polymerase chain reaction|PCR testing]]  
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |↑
* [[Sputum culture]]
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |N
* Serology to detect [[pertussis toxin]]<ref name="CDC4">[http://www.cdc.gov/pertussis/clinical/diagnostic-testing/diagnosis-confirmation.html Pertussis (whooping coug). Diagnosis confirmation. CDC.gov. Accessed on June 22, 2017]</ref><ref name="CDC3">[http://www.cdc.gov/pertussis/clinical/diagnostic-testing/specimen-collection.html Pertussis (whooping cough). Specimen collection. CDC.gov. Accessed on June 22, 2017] </ref>
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | -
|
| colspan="2" style="padding: 5px 5px; background: #F5F5F5;" align="center" |[[Genetic testing]]
* No remarkable imaging findings
|-
| 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]]
|-
|-
|[[Congestive heart failure]]
| -
|Dry/Productive
|<nowiki>+ while walking </nowiki>
| -
| -
| +
|
*Routine lab tests to identify the cause of the [[heart failure]]:
**Renal function tests including [[urinalysis]] and [[Electrolyte|electrolytes]]
**[[Complete blood count]]
**[[Thyroid]] studies in patients being treated with concomitant therapy such as [[amiodarone]]
*Biomarkers:
**[[BNP]] or [[NT-proBNP]]<ref name="pmid23747642">{{cite journal |vauthors=Yancy CW, Jessup M, Bozkurt B, Butler J, Casey DE, Drazner MH, Fonarow GC, Geraci SA, Horwich T, Januzzi JL, Johnson MR, Kasper EK, Levy WC, Masoudi FA, McBride PE, McMurray JJ, Mitchell JE, Peterson PN, Riegel B, Sam F, Stevenson LW, Tang WH, Tsai EJ, Wilkoff BL |title=2013 ACCF/AHA guideline for the management of heart failure: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines |journal=J. Am. Coll. Cardiol. |volume=62 |issue=16 |pages=e147–239 |year=2013 |pmid=23747642 |doi=10.1016/j.jacc.2013.05.019 |url=}}</ref>
**Cardiac Troponin T or I
**Carbohydrate Antigen 125<ref name="pmid27810078">{{cite journal| author=D'Aloia A, Vizzardi E, Metra M| title=Can Carbohydrate Antigen-125 Be a New Biomarker to Guide Heart Failure Treatment?: The CHANCE-HF Trial. | journal=JACC Heart Fail | year= 2016 | volume= 4 | issue= 11 | pages= 844-846 | pmid=27810078 | doi=10.1016/j.jchf.2016.09.001 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=27810078  }} </ref>
|
* EKG to detect underlying cause
* Chest x ray shows cardiomegaly
* Echocardiography is done:
** To determine [[stroke volume]]
** To assess type of heart failure<ref name="pmid19700135">{{cite journal |vauthors=Agha SA, Kalogeropoulos AP, Shih J, Georgiopoulou VV, Giamouzis G, Anarado P, Mangalat D, Hussain I, Book W, Laskar S, Smith AL, Martin R, Butler J |title=Echocardiography and risk prediction in advanced heart failure: incremental value over clinical markers |journal=J. Card. Fail. |volume=15 |issue=7 |pages=586–92 |year=2009 |pmid=19700135 |doi=10.1016/j.cardfail.2009.03.002 |url=}}</ref>
|}
|}
 
|}


==References==
==References==

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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