Alpha 1-antitrypsin deficiency differential diagnosis: Difference between revisions
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==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:''' | ||
Revision as of 16:17, 18 January 2018
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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:
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The differential diagnosis of jaundice, fever, and RUQ pain are:
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| Diseases | Symptoms | Signs | Diagosis | |||||
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| Fever | Cough | Chest pain | Wheezes | Crackles | Tachypnea | Lab tests | Imaging | |
| Asthma | - | Dry/Productive | - | + | - | + |
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| Bronchiolitis | +/- | Dry | - | + | + | +/- |
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| COPD | + | Productive | - | + | + | + |
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| Bacterial pneumonia | + | Productive | + | + | + | +/- |
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| Cystic Fibrosis | +/- | Productive | +/- | - | - | + | Cystic fibrosis transmembrane conductance regulator (CFTR) dysfunction evidenced by :
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X-ray :
Hyperinflation presents as:
Abdominal findings include dilated multiple loops of the small bowel are seen in neonatal meconium ileus. |
| Emphysema | +/- | Productive | - | + | +/- | + |
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Chest X-ray reveals signs of emphysema include:
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| 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. |
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 X-ray Alpha1-antitrypsin deficiency (AATD) emphysema presents as:
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AATD can present as neonatal jaundice. The differential diagnosis for neonatal jaundice is: [3]
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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.
- ↑ Fargo MV, Grogan SP, Saguil A (2017). "Evaluation of Jaundice in Adults". Am Fam Physician. 95 (3): 164–168. PMID 28145671.