Alpha 1-antitrypsin deficiency differential diagnosis: Difference between revisions

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* Emphysema
* Emphysema
* Primary Ciliary Dyskinesia (Kartagener Syndrome)
* Primary Ciliary Dyskinesia (Kartagener Syndrome)
{| class="wikitable"
! rowspan="2" |Diseases
! colspan="2" |Symptoms
!
! colspan="3" |Signs
! colspan="2" |Diagosis
|-
!Fever
!Cough
!Chest pain
!Wheezes
!Crackles
!Tachycardia
!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
| +
| +
| +
| +/-
|
* 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
|-
|[[Pulmonary embolism]]
| +/-
|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
| -
| +
| -
| -
|
* 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:
** 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
|
* Chest X ray is an important diagnostic imaging procedure in TB diagnosis. X ray may show:<ref>{{Cite journal
| author = [[Riccardo Piccazzo]], [[Francesco Paparo]] & [[Giacomo Garlaschi]]
| 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]]
| volume = 91
| pages = 32–40
| 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
| 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.
|-
|[[Hamman-Rich syndrome|Interstitial pneumonitis]] (Hamman - Rich syndrome)
|<nowiki>+</nowiki>
|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>
| +
| -
| -
|
* 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]]:
**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==

Revision as of 18:16, 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 Tachycardia Lab tests Imaging
Asthma - Dry/Productive - + - -
Bronchiolitis +/- Dry - + + +/-
COPD + Productive - + + +
Bacterial pneumonia + Productive + + + +/-
Pulmonary embolism +/- Bloody + + + +
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia[4] - Dry - + - -
  • Pulmonary function test shows obstructive lung disease
Tuberculosis + Bloody + - - -
  • Sputum culture:
    • Three successive positive culture for M. tuberculosis confirms the diagnosis[5]
    • Presence of acid fast bacilli in sputum smear indicates high extent tuberculosis
  • CT scan may show:[7]
  • EKG may have abnormalities in case pleural effussion associated with TB.
Interstitial pneumonitis (Hamman - Rich syndrome) + Productive - - + -
Foreign body aspiration + Bloody + + - -
  • Chest X ray shows:
Pertussis + Dry - - -
  • No remarkable imaging findings
Congestive heart failure - Dry/Productive + while walking - - +
  • EKG to detect underlying cause
  • Chest x ray shows cardiomegaly
  • Echocardiography is done:


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. ↑ Cvitanic O, Marino PL (1989). "Improved use of arterial blood gas analysis in suspected pulmonary embolism". Chest. 95 (1): 48–51. PMID 2491801. Retrieved 2012-04-30. Unknown parameter |month= ignored (help)
  4. ↑ Nassar AA, Jaroszewski DE, Helmers RA, Colby TV, Patel BM, Mookadam F (2011). "Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia: a systematic overview". Am J Respir Crit Care Med. 184 (1): 8–16. doi:10.1164/rccm.201010-1685PP. PMID 21471097.
  5. ↑ Drobniewski F, Caws M, Gibson A, Young D (2003). "Modern laboratory diagnosis of tuberculosis". Lancet Infect Dis. 3 (3): 141–7. PMID 12614730.
  6. ↑ Riccardo Piccazzo, Francesco Paparo & Giacomo Garlaschi (2014). "Diagnostic accuracy of chest radiography for the diagnosis of tuberculosis (TB) and its role in the detection of latent TB infection: a systematic review". The Journal of rheumatology. Supplement. 91: 32–40. doi:10.3899/jrheum.140100. PMID 24788998. Unknown parameter |month= ignored (help)
  7. ↑ Jeong Min Ko, Hyun Jin Park & Chi Hong Kim (2014). "Pulmonary Changes of Pleural Tuberculosis: Up-to-Date CT Imaging". Chest. doi:10.1378/chest.14-0196. PMID 25086249. Unknown parameter |month= ignored (help)
  8. ↑ Pertussis (whooping coug). Diagnosis confirmation. CDC.gov. Accessed on June 22, 2017
  9. ↑ Pertussis (whooping cough). Specimen collection. CDC.gov. Accessed on June 22, 2017
  10. ↑ 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 (2013). "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". J. Am. Coll. Cardiol. 62 (16): e147–239. doi:10.1016/j.jacc.2013.05.019. PMID 23747642.
  11. ↑ D'Aloia A, Vizzardi E, Metra M (2016). "Can Carbohydrate Antigen-125 Be a New Biomarker to Guide Heart Failure Treatment?: The CHANCE-HF Trial". JACC Heart Fail. 4 (11): 844–846. doi:10.1016/j.jchf.2016.09.001. PMID 27810078.
  12. ↑ 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 (2009). "Echocardiography and risk prediction in advanced heart failure: incremental value over clinical markers". J. Card. Fail. 15 (7): 586–92. doi:10.1016/j.cardfail.2009.03.002. PMID 19700135.


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