scholarly journals Should Serum Protein Electrophoresis Be a Surrogate for Liver Biopsy in Some Cases of Alpha1 Antitrypsin Deficiency?

2017 ◽  
Vol 2017 ◽  
pp. 1-3
Author(s):  
Newton Key Hokama ◽  
Marcelo Padovani de Toledo Moraes ◽  
Paula de Oliveira Montandon Hokama ◽  
Fernando Gomes Romeiro

Most patients with alpha1 antitrypsin deficiency do not receive this diagnosis until developing severe complications, in particular when respiratory symptoms are absent. This is a reason for making alpha1 antitrypsin deficiency a possible diagnosis among patients with cryptogenic cirrhosis or other conditions of liver disease without a clear etiology. In this report, a case of cryptogenic cirrhosis is presented, showing the role of serum protein electrophoresis in the diagnosis, which was made before liver biopsy. Therefore, the possibility of using a typical pattern of serum protein electrophoresis as a surrogate for liver biopsy in alpha1 antitrypsin deficiency is discussed.

1999 ◽  
Vol 34 (1) ◽  
pp. 135-139 ◽  
Author(s):  
Stephen T.H. Chew ◽  
Jim Fitzwilliam ◽  
Olafur S. Indridason ◽  
Eugene C. Kovalik

2020 ◽  
Vol 7 (1) ◽  
pp. A13-20
Author(s):  
Vijay Kumar ◽  
◽  
Priya Sahu ◽  
Sadhna Marwah ◽  
Abhay S Nigam ◽  
...  

2021 ◽  
pp. 337-343
Author(s):  
Eugenie Mok ◽  
Ka Wai Kam ◽  
Anthony J. Aldave ◽  
Alvin L. Young

A 65-year-old man presented with bilateral, painless, progressive blurring of vision over 9 years. Slit-lamp examination revealed bilateral subepithelial corneal opacities in clusters located at the mid-periphery. Anterior segment optical coherence tomography, in vivo confocal microscopy (IVCM), serum protein electrophoresis, and molecular genetic testing were performed to evaluate the cause of corneal opacities. Anterior segment optical coherence tomography revealed a band-like, hyperreflective lesion in the Bowman layer and anterior stroma of both corneas. IVCM revealed hyperreflective deposits in the epithelium, anterior stroma, and endothelium. Serum protein electrophoresis identified the presence of paraproteins (immunoglobulin kappa), and molecular genetic testing revealed absence of mutations in the transforming growth factor beta-induced gene (<i>TGFBI</i>) and collagen type XVII alpha 1 gene (<i>COL17A1</i>). The ocular diagnosis of paraproteinemic keratopathy eventually led to a systemic diagnosis of monoclonal gammopathy of undetermined significance by our hematologist/oncologist. Paraproteinemic keratopathy is a rare differential diagnosis in patients with bilateral corneal opacities and therefore may be misdiagnosed as corneal dystrophy or neglected as scars. In patients with bilateral corneal opacities of unknown cause, serological examination, adjunct anterior segment imaging, and molecular genetic testing play a role in establishing the diagnosis.


2021 ◽  
pp. e00200
Author(s):  
J.M. Gastélum-Cano ◽  
J. Fragoso-Flores ◽  
V.M. Noffal-Nuño ◽  
M. Deffis-Court

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