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Course: Popeye Sign in Hereditary Transthyretin Amyloidosis

CME Credits: 1.00

Released: 2023-07-03

A 63-year-old man developed dysesthesia in his feet. He was misdiagnosed with chronic inflammatory demyelinating polyradiculoneuropathy and treated with intravenous immunoglobulin. His sensorimotor polyneuropathy continued to worsen. A physical examination revealed sensorimotor polyneuropathy and bulging bicep in his right upper arm, also termed Popeye sign (, A), which was reportedly associated with the rupture of the long head of the bicep. He exhibited right bulging bicep since disease onset. Upper extremity magnetic resonance imaging revealed tendon degeneration and retraction of biceps brachii (, B). A nerve conduction study confirmed axonal sensorimotor neuropathy affecting the lower limbs. An endoscopic biopsy of the stomach demonstrated transthyretin (TTR)-positive amyloid deposits in vascular walls by Congo red and immunohistochemical staining. Genetic testing of TTR revealed a TTR Ala97Gly mutation. He did not have a family history of the disease. A transthoracic echocardiogram indicated left ventricular hypertrophy with a maximum wall thickness of 12.8 mm; technetium-labeled bone scintigraphy revealed myocardial slight uptake, thus suggesting cardiac amyloidosis. He had no clinical findings associated with carpal tunnel syndrome, autonomic dysfunction, and ocular involvement. He was diagnosed with late-onset hereditary amyloid transthyretin (ATTR) amyloidosis and was treated with patisiran, a TTR gene-silencing drug.


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