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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creator Patel, Sneha N
Koyoda, Sai Krishna
Schwartz, Daniel
Ayesha, Bibi
description 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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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. 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subjects Aged
Amyloid Neuropathies, Familial - complications
Amyloid Neuropathies, Familial - diagnosis
Amyloid Neuropathies, Familial - pathology
Amyloidosis
Anticonvulsants
arrhythmias
Atrophy
Cardiovascular Diseases - etiology
Case reports
Electrolytes
Family medical history
Female
Hand
Heart
Heart failure
Humans
Kidney diseases
Liver
Multiple myeloma
Muscle Cramp - etiology
musculoskeletal syndromes
Pain
Pain - etiology
Pathogenesis
peripheral nerve disease
Pulmonary hypertension
Rare Disease
Rheumatoid arthritis
rheumatology
Skin
Transplants & implants
Trauma
Ultrasonic imaging
Vitamin deficiency
title Severe hand pain as an extracardiac manifestation of transthyretin amyloidosis
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