Difficulties in the diagnostics of transthyretin amyloidosis with polyneuropathy: a clinical case description

Abstract

BACKGROUND: In clinical practice, diagnosing of systemic transthyretin amyloidosis (ATTR-amyloidosis) with the impairment of the nervous and cardiovascular systems became possible due to the accessibility of genetic diagnostics and due to the growth of knowledge on this disease. CLINICAL CASE DESCRIPTION: A clinical case is presented of transthyretin amyloidosis, manifesting as polyneuropathy with significant neuropathic pain syndrome, with the development of severe vegetative insufficiency and with the impairment of the cardiovascular system in a 63 years old male. This clinical pattern, developing for 3 years, was associated with multiple encounters of the patient to various specialists — rheumatology physicians, neurosurgery specialists, endocrinologists, neurologists, internists, including surgical interventions in the spinal cord, carotid artery and cardiac vessels. The disease has lead to the development of severe cachexia and incapacitation of the patient. CONCLUSION: Taking into consideration that ATTR-amyloidosis manifests with the clinical signs of lesions in various organs and systems, and this is interpreted by the specialists within the framework of their specific field apart from the general etiology of the disease. The patient gets prescribed with multiple examinations and symptomatic medications, which causes a delay in the diagnostics and in setting the correct diagnosis. This clinical case describes the classical form of transthyretin amyloidosis, which, upon timely diagnostics, has its pathogenetic therapy.

Keywords

transthyretin amyloidosis / polyneuropathy / vegetative dysfunction / orthostatic hypotension / clinical case

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