Negative for AL and ATTR: Could It Still Be Amyloid?
Amyloidosis is a systemic disease characterized by the extracellular deposition of misfolded proteins. We present a rare case of familial amyloidosis with multiorgan involvement. A 68-year-old woman initially presented with shortness of breath and syncope. Past medical history included chronic kidne...
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| Format: | Article |
| Language: | English |
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American College of Physicians
2025-06-01
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| Series: | Annals of Internal Medicine: Clinical Cases |
| Online Access: | https://www.acpjournals.org/doi/10.7326/aimcc.2024.1208 |
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| _version_ | 1849696827666857984 |
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| author | Ahmed B. Elawad Paul Wilkinson Ryan Kimball Ahmed F. Abdulrahim |
| author_facet | Ahmed B. Elawad Paul Wilkinson Ryan Kimball Ahmed F. Abdulrahim |
| author_sort | Ahmed B. Elawad |
| collection | DOAJ |
| description | Amyloidosis is a systemic disease characterized by the extracellular deposition of misfolded proteins. We present a rare case of familial amyloidosis with multiorgan involvement. A 68-year-old woman initially presented with shortness of breath and syncope. Past medical history included chronic kidney disease, skin bronzing, and macroglossia. An echocardiogram revealed asymmetric septal hypertrophy, which prompted serum marker testing for common forms of amyloidosis. These tests returned negative for light-chain and transthyretin amyloidosis. Later genetic testing confirmed an APOA1 gene mutation. This case highlights the importance of considering hereditary forms of amyloidosis, particularly when tests for light-chain and transthyretin amyloidosis are negative. |
| format | Article |
| id | doaj-art-e63aae666f484e9b9915da1a8d038e83 |
| institution | DOAJ |
| issn | 2767-7664 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | American College of Physicians |
| record_format | Article |
| series | Annals of Internal Medicine: Clinical Cases |
| spelling | doaj-art-e63aae666f484e9b9915da1a8d038e832025-08-20T03:19:20ZengAmerican College of PhysiciansAnnals of Internal Medicine: Clinical Cases2767-76642025-06-014610.7326/aimcc.2024.1208Negative for AL and ATTR: Could It Still Be Amyloid?Ahmed B. Elawad0Paul Wilkinson1Ryan Kimball2Ahmed F. Abdulrahim31Division of Cardiology, Creighton University School of Medicine, Omaha, Nebraska2Creighton University School of Medicine, Omaha, Nebraska2Creighton University School of Medicine, Omaha, Nebraska3Department of Pathology, Creighton University School of Medicine, Omaha, NebraskaAmyloidosis is a systemic disease characterized by the extracellular deposition of misfolded proteins. We present a rare case of familial amyloidosis with multiorgan involvement. A 68-year-old woman initially presented with shortness of breath and syncope. Past medical history included chronic kidney disease, skin bronzing, and macroglossia. An echocardiogram revealed asymmetric septal hypertrophy, which prompted serum marker testing for common forms of amyloidosis. These tests returned negative for light-chain and transthyretin amyloidosis. Later genetic testing confirmed an APOA1 gene mutation. This case highlights the importance of considering hereditary forms of amyloidosis, particularly when tests for light-chain and transthyretin amyloidosis are negative.https://www.acpjournals.org/doi/10.7326/aimcc.2024.1208 |
| spellingShingle | Ahmed B. Elawad Paul Wilkinson Ryan Kimball Ahmed F. Abdulrahim Negative for AL and ATTR: Could It Still Be Amyloid? Annals of Internal Medicine: Clinical Cases |
| title | Negative for AL and ATTR: Could It Still Be Amyloid? |
| title_full | Negative for AL and ATTR: Could It Still Be Amyloid? |
| title_fullStr | Negative for AL and ATTR: Could It Still Be Amyloid? |
| title_full_unstemmed | Negative for AL and ATTR: Could It Still Be Amyloid? |
| title_short | Negative for AL and ATTR: Could It Still Be Amyloid? |
| title_sort | negative for al and attr could it still be amyloid |
| url | https://www.acpjournals.org/doi/10.7326/aimcc.2024.1208 |
| work_keys_str_mv | AT ahmedbelawad negativeforalandattrcoulditstillbeamyloid AT paulwilkinson negativeforalandattrcoulditstillbeamyloid AT ryankimball negativeforalandattrcoulditstillbeamyloid AT ahmedfabdulrahim negativeforalandattrcoulditstillbeamyloid |