Alpha 1-antitrypsin deficiency differential diagnosis: Difference between revisions

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!Wheezes
!Wheezes
!Crackles
!Crackles
!Tachycardia
!Tachypnea
!Lab tests
!Lab tests
!Imaging  
!Imaging  
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|<nowiki>+</nowiki>
|<nowiki>+</nowiki>
| -
| -
| -
| +
|
|
* Lab tests to exclude other [[Disease|diseases]]
* Lab tests to exclude other [[Disease|diseases]]
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** Ground glass appearance  
** Ground glass appearance  
|-
|-
|[[Pulmonary embolism]]
|Cystic Fibrosis
| +/-
|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 ≥60 mmol/L (on two occasions)
* Presence of two disease-causing mutations in CFTR, one from each parental allele
* Abnormal nasal potential difference
|Xray :
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 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 and in meconium ileus.
|-
|Emphysema
| +/-
|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 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-ray reveals signs of emphysema include:
| author = [[Riccardo Piccazzo]], [[Francesco Paparo]] & [[Giacomo Garlaschi]]
* flattening of diaphragms
| 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 (Kartagener Syndrome)  
|<nowiki>+</nowiki>
| +/-
|Productive  
|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:
** Bilateral airway opacification
* CT scan may show
** [[Ground glass opacification on CT|Ground glass]] appearance.
* [[Bronchoscopy]] to exclude other causes such as:
** [[alveolar]] [[hemorrhage]]
** [[lymphoma]].
* Lung biopsy is done:
** In unclear cases; to confirm [[Interstitial pneumonitis|acute interstitial pneumonitis]]
** Exclude other causes of [[Acute respiratory distress syndrome|ARDS]]
|-
|[[Foreign body aspiration]]
| +
| +
|Bloody
|<nowiki>+</nowiki>
| +
| +
|Low or absent amount of nasal nitric oxide (nNO). mucociliary clearance may be useful for screening,
confirmation with tests of ciliary function and ultrastructure
|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
| -
| -
| -
|
* Lab tests to evaluate the [[ventilation]] function
|
* Chest X ray shows:
** Hyperinflation
** Mediastinal shift 
** [[atelectasis|Aatelectasis]]
|-
|[[Pertussis]]
| +
| +
|Dry
|
| -
| -
| -
|
* Nasopharyngeal swab for [[Polymerase chain reaction|PCR testing]]
* [[Sputum culture]]
* 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>
|
* No remarkable imaging findings
|-
|[[Congestive heart failure]]
| -
|Dry/Productive
|<nowiki>+ while walking </nowiki>
| -
| -
| +
| +
|
| +
*Routine lab tests to identify the cause of the [[heart failure]]:
|Reduced concentration of serum alpha1-antitrypsin levels is diagnostic of AATD.
**Renal function tests including [[urinalysis]] and [[Electrolyte|electrolytes]]
Moderate-to-severe airflow obstruction with an FEV1
**[[Complete blood count]]
 
**[[Thyroid]] studies in patients being treated with concomitant therapy such as [[amiodarone]]
Reduced vital capacity
*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>
Increased lung volumes secondary to air trapping (residual volume >120% of predicted value) are usually present
**Cardiac Troponin T or I
|Chest Xray Alpha1-antitrypsin deficiency (AATD) emphysema presents as:
**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>
* 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.
* EKG to detect underlying cause
* An unusual characteristic in alpha1-antitrypsin deficiency is found in about two thirds of PiZZ patients; the emphysema has a striking basilar distribution.
* Chest x ray shows cardiomegaly
* In contrast, cigarette smoking is associated with more severe apical disease.
* 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==

Revision as of 22:25, 12 December 2017

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

Overview

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

Differentiating Alpha 1-antitrypsin deficiency from Other Diseases

Alpha 1-antitrypsin deficiency presents with symptoms of

Differential diagnosis of jaundice and Right upper quadrant abdominal pain includes

Jaundice and RUQ pain differential diagnosis are:

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

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

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

Differential Diagnoses of Alpha 1-antitrypsin deficiency includes:

  • Asthma
  • Bronchiectasis
  • Bronchitis
  • Chronic Obstructive Pulmonary Disease (COPD)
  • Cystic Fibrosis
  • Emphysema
  • Primary Ciliary Dyskinesia (Kartagener Syndrome)
Diseases Symptoms Signs Diagosis
Fever Cough Chest pain Wheezes Crackles Tachypnea Lab tests Imaging
Asthma - Dry/Productive - + - +
Bronchiolitis +/- Dry - + + +/-
COPD + Productive - + + +
Bacterial pneumonia + Productive + + + +/-
Cystic Fibrosis +/- Productive +/- - - + Cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction evidenced by :
  • Elevated sweat chloride ≥60 mmol/L (on two occasions)
  • Presence of two disease-causing mutations in CFTR, one from each parental allele
  • Abnormal nasal potential difference
 Xray :

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 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 and in meconium ileus.

Emphysema +/- Productive - + +/- +
  • 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-ray reveals signs of emphysema include:
  • flattening of diaphragms
  • 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 - + + + Low or absent amount of nasal nitric oxide (nNO). mucociliary clearance may be useful for screening,

confirmation with tests of ciliary function and ultrastructure

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 - + + + Reduced concentration of serum 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 Xray 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 two thirds of PiZZ patients; the emphysema has a striking basilar distribution.
  • In contrast, cigarette smoking is associated with more severe apical disease.

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.


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