Demyelinating Neuropathy in a Patient Treated With Revusiran for Transthyretin (Thr60Ala) Amyloidosis

J Clin Neuromuscul Dis. 2019 Mar;20(3):120-128. doi: 10.1097/CND.0000000000000242.

Abstract

Transthyretin amyloidosis patients develop length-dependent peripheral neuropathy, autonomic dysfunction, and restrictive cardiomyopathy associated with deposition of amyloid fibrils in these tissues. Despite advances in management over the past decade, this disorder causes profound debilitation and ultimately proves fatal. In this report, we describe a man with late-onset cardiac amyloidosis due to a transthyretin Thr60Ala mutation who was treated with an investigational RNAi therapeutic, revusiran, which targets hepatic transthyretin production. Sixteen months into treatment, he developed bilateral lower-extremity weakness and numbness, worsening balance, difficulty manipulating objects with his hands, and finger numbness. Nerve conduction studies were consistent with multifocal demyelinating neuropathy. Intravenous immunoglobulin therapy improved sensation in his hands and feet, and improved hand dexterity. A sural nerve biopsy demonstrated demyelination with substantial axonal loss in the absence of histologically detectable endoneurial amyloid deposition. This case expands the clinicopathologic spectrum of transthyretin amyloidosis and may represent complex disease and treatment effects.

Publication types

  • Case Reports

MeSH terms

  • Aged
  • Amyloid Neuropathies / complications
  • Amyloid Neuropathies / etiology
  • Amyloid Neuropathies, Familial / complications*
  • Amyloid Neuropathies, Familial / drug therapy*
  • Amyloid Neuropathies, Familial / genetics
  • Demyelinating Diseases / complications
  • Demyelinating Diseases / etiology
  • Humans
  • Male
  • Muscle, Skeletal / pathology
  • Muscle, Skeletal / ultrastructure
  • Mutation / genetics
  • Prealbumin / genetics*
  • RNA, Small Interfering / therapeutic use*
  • Sural Nerve / pathology
  • Sural Nerve / ultrastructure

Substances

  • Prealbumin
  • RNA, Small Interfering
  • revusiran

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related