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Severe hand pain as an extracardiac manifestation of transthyretin amyloidosis
Author(s) -
Sneha N Patel,
Sai Koyoda,
Daniel S. Schwartz,
Bibi Ayesha
Publication year - 2019
Publication title -
bmj case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.231
H-Index - 26
ISSN - 1757-790X
DOI - 10.1136/bcr-2019-229677
Subject(s) - medicine , amyloidosis , transthyretin , differential diagnosis , disease , cardiomyopathy , amyloid (mycology) , restrictive cardiomyopathy , rare disease , presentation (obstetrics) , dermatology , intensive care medicine , pathology , surgery , heart failure
Transthyretin amyloidosis is a multisystemic disease caused by the aggregation of amyloid fibrils, resulting in high morbidity and mortality in the presence of cardiac involvement. Patients often experience vague symptoms that make amyloidosis difficult to diagnose. Differential diagnosis for hand pain in a patient with systemic amyloidosis is broad. We present a patient with severe hand cramping and inability to perform activities of daily living. This preceded a new diagnosis of familial amyloid cardiomyopathy. The patient was a poor responder to systemic corticosteroids, anti-inflammatories and anticonvulsant therapy. Her unique presentation gives insight into a rare but debilitating disorder and the potential link between amyloidosis and other disease processes.

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