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
			History and clinical manifestations					Lab Findings						Other blood tests	Other diagnostic
			Family history	Fever	RUQ Pain	Pruritis	Hepatomegaly	AST	ALT	ALK	BLR Indirect	BLR Direct	Viral serology	Other blood tests	Other diagnostic
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
			History and clinical manifestations					Lab Findings						Other blood tests	Other diagnostic
			Family history	Fever	RUQ Pain	Pruritis	Hepatomegaly	AST	ALT	ALK	BLR Indirect	BLR Direct	Viral serology	Other blood tests	Other diagnostic
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
	Cholestatic Jaundice	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
Diseases	Fever	Cough	Chest pain	Wheezes	Crackles	Tachycardia	Lab tests	Imaging
Asthma	-	Dry/Productive	-	+	-	-	Lab tests to exclude other diseases Serum examination shows elevated level of eosinophils due to allergy	CT scan shows: Dilated bronchi Bronchial wall thickening Air trapping
Bronchiolitis	+/-	Dry	-	+	+	+/-	ELISA and immunoassays may be done in case of RSV infection Pulmonary function test to exclude other lung diseases^[1]	CT scan shows: Intense bronchiolar mural inflammation bronchial wall thickening Centrilobular nodules with tree-in-bud pattern
COPD	+	Productive	-	+	+	+	Spirometry: FEV1/FVC < 70% Arterial blood gases: hypoxemia and hypercapnia Sputum culture	EKG may show: P pulmonale right ventricular hypertrophy Narrow QRS^[2] CT scan is more sensitive in diagnosing COPD than X ray
Bacterial pneumonia	+	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 Ground glass appearance
Pulmonary embolism	+/-	Bloody	+	+	+	+	Arterial blood gases may show:^[3] 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^[4]	-	Dry	-	+	-	-	Pulmonary function test shows obstructive lung disease	CT scan may show: Multiple nodules Ground glass appearance Bronchiectasis.
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	Chest X ray is an important diagnostic imaging procedure in TB diagnosis. X ray may show:^[6] Parenchymal infilration Hilar adenopathy Nodules Pleural effusion CT scan may show:^[7] Micronodules Cavitation Consolidation Interlobular septal thickening EKG may have abnormalities in case pleural effussion associated with TB.
Interstitial pneumonitis (Hamman - Rich syndrome)	+	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 appearance. Bronchoscopy to exclude other causes such as: alveolar hemorrhage lymphoma. Lung biopsy is done: In unclear cases; to confirm acute interstitial pneumonitis Exclude other causes of ARDS
Foreign body aspiration	+	Bloody	+	+	-	-	Lab tests to evaluate the ventilation function	Chest X ray shows: Hyperinflation Mediastinal shift Aatelectasis
Pertussis	+	Dry		-	-	-	Nasopharyngeal swab for PCR testing Sputum culture Serology to detect pertussis toxin^[8]^[9]	No remarkable imaging findings
Congestive heart failure	-	Dry/Productive	+ while walking	-	-	+	Routine lab tests to identify the cause of the heart failure: Renal function tests including urinalysis and electrolytes Complete blood count Thyroid studies in patients being treated with concomitant therapy such as amiodarone Biomarkers: BNP or NT-proBNP^[10] Cardiac Troponin T or I Carbohydrate Antigen 125^[11]	EKG to detect underlying cause Chest x ray shows cardiomegaly Echocardiography is done: To determine stroke volume To assess type of heart failure^[12]

References

↑ 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.
↑ 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.
↑ 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)
↑ 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.
↑ Drobniewski F, Caws M, Gibson A, Young D (2003). "Modern laboratory diagnosis of tuberculosis". Lancet Infect Dis. 3 (3): 141–7. PMID 12614730.
↑ 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)
↑ 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)
↑ Pertussis (whooping coug). Diagnosis confirmation. CDC.gov. Accessed on June 22, 2017
↑ Pertussis (whooping cough). Specimen collection. CDC.gov. Accessed on June 22, 2017
↑ 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.
↑ 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.
↑ 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.

Template:WikiDoc Sources

[pmid18339530-1] 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.

[pmid23653989-2] 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.

[pmid2491801-3] 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)

[pmid21471097-4] 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.

[pmid12614730-5] 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)

[CDC4-8] Pertussis (whooping coug). Diagnosis confirmation. CDC.gov. Accessed on June 22, 2017

[CDC3-9] Pertussis (whooping cough). Specimen collection. CDC.gov. Accessed on June 22, 2017

[pmid23747642-10] 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.

[pmid27810078-11] 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.

[pmid19700135-12] 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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Alpha 1-antitrypsin deficiency differential diagnosis

Overview

Differentiating Alpha 1-antitrypsin deficiency from Other Diseases

References

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