Alpha 1-antitrypsin deficiency differential diagnosis

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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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