Key result
A 73-year-old woman presenting with severe hand cramping and inability to perform activities of daily living was diagnosed with familial transthyretin amyloid cardiomyopathy with the Val122Ile mutation.
Why the study?
Transthyretin amyloidosis causes high morbidity and mortality when cardiac involvement is present, but vague symptoms make it difficult to diagnose, and the differential diagnosis for hand pain in systemic amyloidosis is broad.
Case Report (n=1)
No
Severe hand pain can serve as an early, debilitating extracardiac manifestation of familial amyloid cardiomyopathy.
Unexplained hand cramping may signal early extracardiac familial ATTR cardiomyopathy; this case extends phenotypic descriptions but leaves screening implications open.
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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Patel et al. (2019) conducted a case report in Transthyretin amyloidosis (n=1). Symptomatic treatment was evaluated. A 73-year-old woman presenting with severe hand cramping and inability to perform activities of daily living was diagnosed with familial transthyretin amyloid cardiomyopathy with the Val122Ile mutation.
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