DIFFICULTIES IN DIAGNOSIS OF TRANSHYRETIN AMYLOIDOSIS WITH POLYNEUROPATHY. CLINICAL CASE

Background: Thanks to advances and accessibility in the field of genetic research, practitioners have the opportunity to diagnose systemic transthyretin amyloidosis affecting the nervous and cardiovascular systems. Clinical case description: We describe a clinical case of transthyretin amyloidosis, manifested by polyneuropathy with severe neuropathic pain syndrome, the development of severe autonomic failure and damage to the cardiovascular system in a 63-year-old man. This clinical picture developed over 3 years with numerous calls to various specialists: rheumatologists, neurosurgeons, endocrinologists, neurologists, therapists; the patient underwent surgical interventions on the spinal cord, carotid artery and heart vessels. The disease led to severe cachexia and disability of the patient. Conclusion: This observation reflects the classic form of transthyretin amyloidosis involving the nervous and cardiovascular systems, which, with timely diagnosis, has pathogenetic treatment and slows down the manifestations of the disease.