Abstract
AbstractA 71‐year‐old man with a family history of hereditary ATTR (ATTRm) amyloidosis, began to have sensory disturbance in his extremities at age 65. Although he had no cardiac or gastrointestinal symptoms, a head‐up tilt test, ultrasound echography, myocardial scintigraphy, and upper gastric biopsy showed abnormality. This, together with the findings of nerve conduction study and gene analysis, confirmed a diagnosis of ATTRm. He was started on 20 mg/day tafamidis meglumine, a transthyretin tetramer stabilizer, and 0.5 mg/day clonazepam, a GABAergic drug. Somatic nerve functions were unchanged or slightly worsened. However, his bladder autonomic nerve function, as assessed by a urodynamic test, showed mild improvements characterized by recovery of bladder sensation and contractility.
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