Abstract
We present a case of a patient with familial amyloid polyneuropathy. A young patient with gradually progressing symptoms of peripheral neuropathy was initially diagnosed and treated for chronic inflammatory demyelinating polyneuropathy.
Subsequent complications resulted in endoscopic examination of the digestive tract. Biopsy showed evidence of amyloid deposits.
Subsequent comprehensive examination confirmed hereditary form of amyloid polyneuropathy on the basis of a rare mutation in the transthyretin gene in Val50Ala position. Family history revealed that the mother of the patient was treated for amyloidosis with neuropathic symptoms.
Treatment with tafamidis meglumine prevented further disease progression, and was followed by orthotopic liver transplantation. At present, clinical condition of the patient gradually improves with regression of motor and sensory neuropathic symptoms.