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[Familial amyloidotic polyneuropathy with a transthyretin variant (Val30-->Leu)].

We report a Japanese woman with familial amyloidotic polyneuropathy (FAP) with a transthyretin variant that substituted leucine for valine at position 30. Family history was not informative. She had initially suffered from repeated petechiae in the eyelids at the age of 51. Two years later, dysesthesia in the lower extremities appeared. Distal muscle weakness and sensory disturbance gradually developed. Autonomic dysfunction emerged and vomiting and orthostatic hypotension were marked in the late stage of her illness. Because of renal failure, she died at the age of 54. At autopsy, amyloid deposits were prominent in peripheral nerves including autonomic nerves, heart, blood vessels, gastrointestinal tract, kidneys, and bladder. In the nervous system, we found amyloid deposits in anterior roots, posterior roots, posterior root ganglions, peripheral nerves, and sympathetic ganglions. Cardiac weight was increased (595 g) with conspicuous amyloid deposits in the myocardium. The kidneys showed massive deposition of amyloid in the glomeruli and vascular walls. Amyloid accumulated moderately in tongue, submandibular gland, gallbladder, spleen, and pancreas, and slightly in the thyroid gland, lung, liver, and adrenal gland. No amyloid deposits were seen in the CNS with the exception of perivascular deposits in the choroid plexus.