Multisystem Amyloidosis as the Unifying Diagnosis for Constipation, Collapse and Cardiomyopathy | oneAMYLOIDOSISvoice

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Multisystem Amyloidosis as the Unifying Diagnosis for Constipation, Collapse and Cardiomyopathy

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source: BMJ Case Reports

year: 2018

authors: McFarlane M, Bashford A, Sah S, Disney BR


Amyloidosis a rare disorder characterised by the deposition of amyloid protein aggregates in different organ systems throughout the body with resulting functional impairment of affected organs. It can present with localised or multisystemic deposits. Diagnosis is often delayed due to the non-specific nature of the symptoms. We present the case of a 59-year-old man with a 12-month history of non-specific symptoms. Investigations revealed Helicobacter pylori positive gastritis. Blood tests showed only a normocytic anaemia and thrombocytopaenia. CT scan showed proximal sigmoid thickening. Biopsies were unremarkable.

Echocardiogram and cardiac MRI scan showed restrictive cardiomyopathy. Congo red staining of gastric biopsies showed amyloid deposition. The patient had elevated serum kappa light chains and a bone marrow biopsy confirmed multiple myeloma and he was subsequently diagnosed with systemic light chain (AL) amyloidosis secondary to this. He was started on chemotherapy and parenteral nutrition; however, he deteriorated rapidly and so was started on palliative treatment and discharged home.

organization: University Hospitals Coventry and Warwickshire NHS Trust, UK

DOI: 10.1136/bcr-2018-225301

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