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Updated: Oct 9, 2026

Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
[AL amyloidosis associated with multiple myeloma revealed by cholestatic hepatomegaly: A case report]
Tamba Marc Sandouno1, Mathilde Vermersch2, Jeremy Passos3
1Service de médecine polyvalente, CH Valenciennes, 114, avenue Desandrouin, 59300 Valenciennes, France.
Introduction:
AL amyloidosis is a rare disorder characterized by the extracellular deposition of immunoglobulin light chain fibrils produced by a clonal plasma cell population. Hepatic involvement as the initial manifestation is rare, and forms associated with jaundice and cholestasis carry a poor prognosis.
Case Report:
We report the case of a 53-year-old man from Togo presenting with massive hepatomegaly, cholestatic jaundice, and weight loss. After a negative etiological workup, diffuse hepatic infiltration associated with a plasma cell dyscrasia raised suspicion of AL amyloidosis. Peripheral biopsies were negative. The diagnosis was confirmed by transjugular liver biopsy, showing κ light chain amyloid deposits associated with a monoclonal plasma cell proliferation. Despite anti-clonal therapy using the ANDROMEDA protocol, the clinical course was rapidly fatal.
Conclusion:
This case highlights the critical importance of early diagnosis when facing unexplained cholestatic hepatomegaly.
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