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hATTR Amyloidosis – Disease-Modifying Therapy — SCE Neurology MCQ

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HardPeripheral Neuropathy & NeuromuscularhATTR Amyloidosis – Disease-Modifying TherapySCE Neurology

A 55-year-old man with hereditary transthyretin amyloidosis (hATTR) presents with progressive sensorimotor polyneuropathy, autonomic dysfunction (postural hypotension, gastroparesis), and cardiomyopathy. Genetic testing confirms a Val30Met TTR mutation. What disease-modifying therapy is available?

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Correct answer: B — TTR stabilisers (tafamidis) or TTR gene silencers (patisiran — siRNA, or inotersen — antisense oligonucleotide) are available

Hereditary transthyretin amyloidosis (hATTR) now has disease-modifying therapies targeting the underlying pathology: (1) TTR stabilisers (tafamidis — stabilises the TTR tetramer, preventing dissociation and amyloid fibril formation; NICE TA940), (2) TTR gene silencers — patisiran (siRNA targeting hepatic TTR mRNA; NICE HST21) and inotersen (antisense oligonucleotide; NICE HST16). These reduce circulating TTR and slow neurological progression. Liver transplantation was previously the only option. A: Multiple therapies now exist. C: Steroids are not effective. D: PLEX does not address the pathology. E: Rituximab has no role.

Reference: NICE HST21 Patisiran; NICE HST16 Inotersen; NICE TA940 Tafamidis