Severe hand pain as an extracardiac manifestation of transthyretin amyloidosis

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 p...

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Veröffentlicht in:BMJ case reports 2019-10, Vol.12 (10), p.e229677
Hauptverfasser: Patel, Sneha N, Koyoda, Sai Krishna, Schwartz, Daniel, Ayesha, Bibi
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Sprache:eng
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Zusammenfassung: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.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2019-229677