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Neurológia pre prax 5/2022
Family with hereditary transthyretin amyloidosis – case report
Hereditary transthyretin amyloidosis is a rare disease with an often fatal course. Due to the currently available treatment options in the first stages, diagnostic vigilance and targeted search for patients with it is necessary. The article briefly summarizes the current knowledge about the disease, diagnostic pitfalls, the recommended treatment procedure and presents the case of the first family discovered in the Czech Republic.
Keywords: amyloidosis, transthyretin, hATTR, wtATTR, TTR-FAP, polyneuropathy
