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Updated: Feb 15, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Case report: One case of primary AL amyloidosis repeatedly misdiagnosed as scleroderma
Linge Sun1, Lei Zhang, Wenlu Hu
1Department of Rheumatology and Clinical Immunology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Introduction:
Amyloid light chain (AL) results from the deposition of immunoglobulin light chain fragments, and can affect multiple organs/systems. Our patient was diagnosed as scleroderma repeatedly because of extensive skin thickening and hardening, but the treatment was not effective. We did extensive laboratory examinations including serum/urine protein electrophoresis and flow cytometry assay of bone marrow aspiration.
Conclusion:
A diagnosis of primary AL amyloidosis was established.
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