Alpha 1-antitrypsin deficiency differential diagnosis
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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Differential diagnosis of cough with wheezes is :
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 | - | + | + | + |
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Chest X-ray reveals :
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Alpha 1-antitrypsin deficiency | +/- | Productive | - | + | + | + |
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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.