Diagnosing a Challenging Case of Primary Amyloidosis using Capillary Electrophoresis
Amyloid Light chain (AL) amyloidosis is characterised by deposition of intact free light chains or their fragments in extracellular space. Here, authors describe the journey of a diagnostically challenging patient who presented with features of nephrotic syndrome and was finally diagnosed with AL...
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JCDR Research and Publications Pvt. Ltd.
2021-10-01
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| Series: | National Journal of Laboratory Medicine |
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| author | rashmi verma rajni saijpaul Surbhi Garg niharika jain Vineeta V Batra |
| author_facet | rashmi verma rajni saijpaul Surbhi Garg niharika jain Vineeta V Batra |
| author_sort | rashmi verma |
| collection | DOAJ |
| description | Amyloid Light chain (AL) amyloidosis is characterised by deposition of intact free light chains or their fragments in extracellular
space. Here, authors describe the journey of a diagnostically challenging patient who presented with features of nephrotic syndrome
and was finally diagnosed with AL amyloidosis. A 45-year-old female presented to the Outpatient Department (OPD) with gradually
progressive generalised body swelling. On examination, hepatomegaly, cardiomegaly and macroglossia were observed. Renal
biopsy, capillary serum protein electrophoresis, immunotyping and serum free light chain assay were performed along with routine
blood and urine investigations to detect the presence of monoclonal protein. Bone marrow biopsy was conducted for confirmation of
diagnosis. Proteinuria with hypoalbuminaemia 1.8 g/dL was detected during routine investigations. Renal biopsy showed presence
of amyloid deposits in glomerular mesangium and walls of medium sized blood vessels which tested positive for Immunoglobulin (Ig)
G, IgA, kappa and lambda chains on immune florescence. Serum protein capillary electrophoresis findings demonstrated increase in
beta 2 fraction and distortion in gamma region. Immuno typing showed presence of monoclonal IgA heavy chains and lambda light
chains. Bone marrow biopsy confirmed presence of plasma cell dyscrasia. Based on these findings authors concluded that capillary
gel electrophoresis is more sensitive method than agarose gel electrophoresis in detecting beta migrating monoclonal proteins. |
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| id | doaj.art-3fa28156b1c74cf1977c5018c1c4c3d1 |
| institution | Directory Open Access Journal |
| issn | 2277-8551 2455-6882 |
| language | English |
| last_indexed | 2024-12-21T23:39:20Z |
| publishDate | 2021-10-01 |
| publisher | JCDR Research and Publications Pvt. Ltd. |
| record_format | Article |
| series | National Journal of Laboratory Medicine |
| spelling | doaj.art-3fa28156b1c74cf1977c5018c1c4c3d12022-12-21T18:46:17ZengJCDR Research and Publications Pvt. Ltd.National Journal of Laboratory Medicine2277-85512455-68822021-10-01104010310.7860/NJLM/2021/48832:2542Diagnosing a Challenging Case of Primary Amyloidosis using Capillary Electrophoresisrashmi verma0rajni saijpaul1Surbhi Garg2niharika jain3Vineeta V Batra4Assistant Professor, Department of Biochemistry, Maulana Azad Medical College, New Delhi, IndiaSenior Specialist, Department of Biochemistry, Maulana Azad Medical College, New Delhi, India. Senior Resident, Department of Biochemistry, Maulana Azad Medical College, New Delhi, IndiaSenior Resident, Department of Pathology, Govind Ballabh Pant Hospital, New Delhi, India.Director Professor, Department of Pathology, Govind Ballabh Pant Hospital, New Delhi, India.Amyloid Light chain (AL) amyloidosis is characterised by deposition of intact free light chains or their fragments in extracellular space. Here, authors describe the journey of a diagnostically challenging patient who presented with features of nephrotic syndrome and was finally diagnosed with AL amyloidosis. A 45-year-old female presented to the Outpatient Department (OPD) with gradually progressive generalised body swelling. On examination, hepatomegaly, cardiomegaly and macroglossia were observed. Renal biopsy, capillary serum protein electrophoresis, immunotyping and serum free light chain assay were performed along with routine blood and urine investigations to detect the presence of monoclonal protein. Bone marrow biopsy was conducted for confirmation of diagnosis. Proteinuria with hypoalbuminaemia 1.8 g/dL was detected during routine investigations. Renal biopsy showed presence of amyloid deposits in glomerular mesangium and walls of medium sized blood vessels which tested positive for Immunoglobulin (Ig) G, IgA, kappa and lambda chains on immune florescence. Serum protein capillary electrophoresis findings demonstrated increase in beta 2 fraction and distortion in gamma region. Immuno typing showed presence of monoclonal IgA heavy chains and lambda light chains. Bone marrow biopsy confirmed presence of plasma cell dyscrasia. Based on these findings authors concluded that capillary gel electrophoresis is more sensitive method than agarose gel electrophoresis in detecting beta migrating monoclonal proteins.http://www.njlm.net/articles/PDF/2542/48832_CE[Ra1]_F(SHU)_PF1(JY_SHU)_PFA(JY_KM)_PN(KM).pdfimmunoglobulin light chain amyloidosisparaproteinaemiaproteinuria |
| spellingShingle | rashmi verma rajni saijpaul Surbhi Garg niharika jain Vineeta V Batra Diagnosing a Challenging Case of Primary Amyloidosis using Capillary Electrophoresis National Journal of Laboratory Medicine immunoglobulin light chain amyloidosis paraproteinaemia proteinuria |
| title | Diagnosing a Challenging Case of Primary Amyloidosis using Capillary Electrophoresis |
| title_full | Diagnosing a Challenging Case of Primary Amyloidosis using Capillary Electrophoresis |
| title_fullStr | Diagnosing a Challenging Case of Primary Amyloidosis using Capillary Electrophoresis |
| title_full_unstemmed | Diagnosing a Challenging Case of Primary Amyloidosis using Capillary Electrophoresis |
| title_short | Diagnosing a Challenging Case of Primary Amyloidosis using Capillary Electrophoresis |
| title_sort | diagnosing a challenging case of primary amyloidosis using capillary electrophoresis |
| topic | immunoglobulin light chain amyloidosis paraproteinaemia proteinuria |
| url | http://www.njlm.net/articles/PDF/2542/48832_CE[Ra1]_F(SHU)_PF1(JY_SHU)_PFA(JY_KM)_PN(KM).pdf |
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