Diagnostic Challenges and Solutions in Systemic Amyloidosis
Amyloidosis refers to a clinically heterogeneous group of disorders characterized by the extracellular deposition of amyloid proteins in various tissues of the body. To date, 42 different amyloid proteins that originate from normal precursor proteins and are associated with distinct clinical forms o...
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| Format: | Article |
| Language: | English |
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MDPI AG
2023-02-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/24/5/4655 |
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| author | Rivka Goldis Batia Kaplan Olga (Lesya) Kukuy Michael Arad Hila Magen Efrat Shavit-Stein Amir Dori Avi Livneh |
| author_facet | Rivka Goldis Batia Kaplan Olga (Lesya) Kukuy Michael Arad Hila Magen Efrat Shavit-Stein Amir Dori Avi Livneh |
| author_sort | Rivka Goldis |
| collection | DOAJ |
| description | Amyloidosis refers to a clinically heterogeneous group of disorders characterized by the extracellular deposition of amyloid proteins in various tissues of the body. To date, 42 different amyloid proteins that originate from normal precursor proteins and are associated with distinct clinical forms of amyloidosis have been described. Identification of the amyloid type is essential in clinical practice, since prognosis and treatment regimens both vary according to the particular amyloid disease. However, typing of amyloid protein is often challenging, especially in the two most common forms of amyloidosis, i.e., the immunoglobulin light chain amyloidosis and transthyretin amyloidosis. Diagnostic methodology is based on tissue examinations as well as on noninvasive techniques including serological and imaging studies. Tissue examinations vary depending on the tissue preparation mode, i.e., whether it is fresh-frozen or fixed, and they can be carried out by ample methodologies including immunohistochemistry, immunofluorescence, immunoelectron microscopy, Western blotting, and proteomic analysis. In this review, we summarize current methodological approaches used for the diagnosis of amyloidosis and discusses their utility, advantages, and limitations. Special attention is paid to the simplicity of the procedures and their availability in clinical diagnostic laboratories. Finally, we describe new methods recently developed by our team to overcome limitations existing in the standard assays used in common practice. |
| first_indexed | 2024-03-11T07:22:55Z |
| format | Article |
| id | doaj.art-bdfa4ce0253e4ce2b17f7299e364cc98 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-11T07:22:55Z |
| publishDate | 2023-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-bdfa4ce0253e4ce2b17f7299e364cc982023-11-17T07:51:30ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672023-02-01245465510.3390/ijms24054655Diagnostic Challenges and Solutions in Systemic AmyloidosisRivka Goldis0Batia Kaplan1Olga (Lesya) Kukuy2Michael Arad3Hila Magen4Efrat Shavit-Stein5Amir Dori6Avi Livneh7Department of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan 5262000, IsraelInstitute of Hematology, Sheba Medical Center, Tel Hashomer, Ramat Gan 5262000, IsraelInstitute of Nephrology and Hypertension, Sheba Medical Center, Tel Hashomer, Ramat Gan 5262000, IsraelSackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, IsraelSackler Faculty of Medicine, Tel Aviv University, Tel Aviv 6997801, IsraelDepartment of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan 5262000, IsraelDepartment of Neurology, Sheba Medical Center, Tel Hashomer, Ramat Gan 5262000, IsraelDepartment of Medicine, Sheba Medical Center, Tel Hashomer, Ramat Gan 5262000, IsraelAmyloidosis refers to a clinically heterogeneous group of disorders characterized by the extracellular deposition of amyloid proteins in various tissues of the body. To date, 42 different amyloid proteins that originate from normal precursor proteins and are associated with distinct clinical forms of amyloidosis have been described. Identification of the amyloid type is essential in clinical practice, since prognosis and treatment regimens both vary according to the particular amyloid disease. However, typing of amyloid protein is often challenging, especially in the two most common forms of amyloidosis, i.e., the immunoglobulin light chain amyloidosis and transthyretin amyloidosis. Diagnostic methodology is based on tissue examinations as well as on noninvasive techniques including serological and imaging studies. Tissue examinations vary depending on the tissue preparation mode, i.e., whether it is fresh-frozen or fixed, and they can be carried out by ample methodologies including immunohistochemistry, immunofluorescence, immunoelectron microscopy, Western blotting, and proteomic analysis. In this review, we summarize current methodological approaches used for the diagnosis of amyloidosis and discusses their utility, advantages, and limitations. Special attention is paid to the simplicity of the procedures and their availability in clinical diagnostic laboratories. Finally, we describe new methods recently developed by our team to overcome limitations existing in the standard assays used in common practice.https://www.mdpi.com/1422-0067/24/5/4655amyloidosisamyloid typingfree light chainsfree light chain dimersmass spectrometrytransthyretin |
| spellingShingle | Rivka Goldis Batia Kaplan Olga (Lesya) Kukuy Michael Arad Hila Magen Efrat Shavit-Stein Amir Dori Avi Livneh Diagnostic Challenges and Solutions in Systemic Amyloidosis International Journal of Molecular Sciences amyloidosis amyloid typing free light chains free light chain dimers mass spectrometry transthyretin |
| title | Diagnostic Challenges and Solutions in Systemic Amyloidosis |
| title_full | Diagnostic Challenges and Solutions in Systemic Amyloidosis |
| title_fullStr | Diagnostic Challenges and Solutions in Systemic Amyloidosis |
| title_full_unstemmed | Diagnostic Challenges and Solutions in Systemic Amyloidosis |
| title_short | Diagnostic Challenges and Solutions in Systemic Amyloidosis |
| title_sort | diagnostic challenges and solutions in systemic amyloidosis |
| topic | amyloidosis amyloid typing free light chains free light chain dimers mass spectrometry transthyretin |
| url | https://www.mdpi.com/1422-0067/24/5/4655 |
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