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Late-onset familial amyloid polyneuropathy (FAP) Val30Met without family history

Thomas Rudolph1, Martin Wilhelm Kurz, Elisabeth Farbu

  • 1Department of Neurology, Stavanger University Hospital, Postboks 8100, 4068 Stavanger, Norway. mokum99@online.no

Clinical Medicine & Research
|July 9, 2008
PubMed

Insights

Familial amyloid polyneuropathy (FAP) due to the TTR Val30Met mutation can occur in non-endemic areas. This rare genetic disorder may present without a family history and with varied symptoms.

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Familial amyloid polyneuropathy (FAP) is a rare, progressive, and fatal genetic disorder.
  • It is most commonly caused by the Val30Met mutation in the transthyretin (TTR) gene.
  • FAP often presents with polyneuropathy and tends to occur in endemic clusters.

Observation:

  • A 65-year-old man from a non-endemic region presented with progressive, painless axonal sensorimotor polyneuropathy.
  • The patient exhibited mild autonomic dysfunction.
  • There was no prior family history of FAP symptoms.

Findings:

  • Nerve biopsy confirmed amyloid deposits with TTR-antibody staining via immunohistochemistry.
  • DNA sequencing identified the TTR Val30Met mutation.
  • The diagnosis of late-onset FAP Val30Met was established.

Implications:

  • Late-onset FAP Val30Met can manifest in non-endemic areas.
  • The disorder may occur in individuals without a family history, indicating variable penetrance.
  • This case highlights the importance of considering FAP Val30Met even in atypical presentations.

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