Alpha 1-antitrypsin deficiency differential diagnosis: Difference between revisions

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{{Alpha 1-antitrypsin deficiency}}
[[Image:Home_logo1.png|right|250px|link=https://www.wikidoc.org/index.php/Alpha_1-antitrypsin_deficiency]]
{{CMG}}; {{AE}} {{Mazia}}
{{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|chronic obstructive pulmonary disease (COPD)]],[[cystic fibrosis]],[[emphysema]],[[primary ciliary dyskinesia]] ([[Kartagener's Syndrome|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 [[emphysema]] associated with compromised [[Liver function tests abnormality|liver function tests]] and/or [[cirrhosis]]. Differential diagnosis of includes:  
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:  


'''Jaundice and RUQ pain differential diagnosis are:'''
'''Jaundice and RUQ pain differential diagnosis are:'''
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[[Differential diagnosis]] of [[cough]] with [[Wheezing|wheezes]] is :
{| class="wikitable"
{| class="wikitable"
! rowspan="2" |Diseases
! rowspan="2" |Diseases
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* 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]]
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| +/-
| +/-
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* [[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>
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* [[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]]
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* [[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.  
|-
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|[[Bacterial pneumonia]]  
|[[Bacterial pneumonia]]  
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| +/-
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* 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]].
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|
* 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.
|-
|-
|[[Cystic Fibrosis]]
|[[Cystic Fibrosis]]
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|[[Cystic fibrosis]] transmembrane conductance regulator (CFTR) dysfunction evidenced by :
|[[Cystic fibrosis]] transmembrane conductance regulator (CFTR) dysfunction evidenced by :
* Elevated [[Sweat chloride test|sweat chloride]] ≥60 mmol/L (on two occasions)
* 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]]
* Presence of two disease-causing [[mutations]] in CFTR, one from each [[Allele|parental allele]].


* Abnormal [[Potential difference|nasal potential difference]]
* Abnormal [[Potential difference|nasal potential difference]].
|[[X-ray]] :
|[[X-ray]] :


Hyperinflation presents as:
Hyperinflation presents as:
* Flattening of the [[diaphragm]]
* Flattening of the [[diaphragm]].


* Anterior bowing of the infant [[sternum]]
* Anterior bowing of the infant [[sternum]].
* Increased retrosternal air space
* Increased retrosternal air space.


* Generalized [[pulmonary]] overinflation.
* Generalized [[pulmonary]] overinflation.
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* [[Sputum]] is mucoid and the predominant cells are [[macrophages]].
* [[Sputum]] is mucoid and the predominant cells are [[macrophages]].
|[[Chest X-rays|Chest X-ray]] reveals signs of [[emphysema]] include:
|[[Chest X-rays|Chest X-ray]] reveals signs of [[emphysema]] include:
* Flattening of [[diaphragm]]
* Flattening of [[diaphragm]].


* Increased retrosternal air space (see on lateral chest films)
* Increased retrosternal air space (see on lateral chest films).


* A long narrow [[heart]] shadow.  
* A long narrow [[heart]] shadow.  


* Tapering vascular shadows  
* Tapering vascular shadows.


* Hyperlucency of the [[lungs]]  
* Hyperlucency of the [[lungs]].
|-
|-
|[[Primary ciliary dyskinesia|Primary Ciliary Dyskinesia]] ([[Kartagener's Syndrome|Kartagener Syndrome]])  
|[[Primary ciliary dyskinesia|Primary Ciliary Dyskinesia]] ([[Kartagener's Syndrome|Kartagener Syndrome]])  
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|Low or absent amount of nasal [[nitric oxide]] (nNO)
|
[[Mucociliary clearance]] may be useful for [[screening]],
* Low or absent amount of nasal [[nitric oxide]] (nNO).
 
* [[Mucociliary clearance]] may be useful for [[screening]].
Confirmation with tests of ciliary function.
* Confirmation with tests of ciliary function.
|[[Chest X-rays|Chest X-ray]] reveals :
|[[Chest X-rays|Chest X-ray]] reveals :
 
* [[Bronchial]] wall thickening.
[[Bronchial]] wall thickening
* [[Bronchiectasis]] and hyperinflation.
 
* Cystic [[bronchiectasis]] with air-fluid levels may be visible.
[[Bronchiectasis]] and hyperinflation
* Usually involves the lower and middle lobes.
 
Cystic [[bronchiectasis]] with air-fluid levels may be visible
 
Usually involves the lower and middle lobes.
|-
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|[[Alpha 1-antitrypsin deficiency]]
|[[Alpha 1-antitrypsin deficiency]]
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|Reduced concentration of serum [[Alpha1 antitrypsin|alpha1-antitrypsin levels]] is diagnostic of AATD.
|
Moderate-to-severe airflow obstruction with an [[FEV1]]
* Reduced concentration of serum [[Alpha1 antitrypsin|alpha1-antitrypsin levels]] is diagnostic of AATD.
 
* Moderate-to-severe airflow obstruction with an [[FEV1]].
Reduced [[vital capacity]]
* Reduced [[vital capacity]].
 
* Increased [[lung volumes]] secondary to air trapping ([[residual volume]] >120% of predicted value) are usually present.
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:
|[[Chest X-rays|Chest X-ray]] Alpha1-antitrypsin deficiency (AATD) [[emphysema]] presents as:
* a hyperlucent appearance because healthy tissue has been destroyed.
* a hyperlucent appearance because healthy tissue has been destroyed.

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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