Management of asymptomatic gene carriers of transthyretin familial amyloid polyneuropathy

Hartmut H J Schmidt, Fabio Barroso, Alejandra González-Duarte, Isabel Conceição, Laura Obici, Denis Keohane, Leslie Amass

Research output: Contribution to journalArticlepeer-review

Abstract

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, severe, and irreversible, adult-onset, hereditary disorder caused by autosomal-dominant mutations in the TTR gene that increase the intrinsic propensity of transthyretin protein to misfold and deposit systemically as insoluble amyloid fibrils in nerve tissues, the heart, and other organs. TTR-FAP is characterized by relentless, progressively debilitating polyneuropathy, and leads to death, on average, within 10 years of symptom onset without treatment. With increased availability of disease-modifying treatment options for a wider spectrum of patients with TTR-FAP, timely detection of the disease may offer substantial clinical benefits. This review discusses mutation-specific predictive genetic testing in first-degree relatives of index patients diagnosed with TTR-FAP and the structured clinical follow-up of asymptomatic gene carriers for prompt diagnosis and early therapeutic intervention before accumulation of substantial damage. Muscle Nerve 54: 353–360, 2016.

Original languageEnglish
Pages (from-to)353-360
Number of pages8
JournalMuscle and Nerve
Volume54
Issue number3
DOIs
Publication statusPublished - Sep 1 2016

Keywords

  • amyloidosis
  • carrier
  • familial amyloid polyneuropathy
  • predictive genetic testing
  • transthyretin

ASJC Scopus subject areas

  • Physiology
  • Medicine(all)
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)

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