
Late-Onset Hereditary Amyloid Transthyretin (ATTR) Amyloidosis: A Case Study
A 63-year-old man experienced dysesthesia in his feet and was initially misdiagnosed with chronic inflammatory demyelinating polyradiculoneuropathy. Despite treatment with intravenous immunoglobulin, his condition worsened. Further examination revealed sensorimotor polyneuropathy and a bulging bicep in his right upper arm, known as the Popeye sign. MRI scans showed tendon degeneration and retraction of the biceps brachii, confirming the presence of axonal sensorimotor neuropathy. An endoscopic biopsy of the stomach revealed transthyretin (TTR)-positive amyloid deposits and genetic testing confirmed a TTR Ala97Gly mutation. Additional tests indicated left ventricular hypertrophy and myocardial uptake, suggesting cardiac amyloidosis. The patient did not exhibit symptoms associated with carpal tunnel syndrome, autonomic dysfunction, or ocular involvement. Ultimately, he was diagnosed with late-onset hereditary amyloid transthyretin (ATTR) amyloidosis and treated with patisiran, a TTR gene-silencing drug.
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