Figure 33-1 Sural nerve biopsy. Paraffin-embedded longitudinal section stained with an antitransthyretin antibody. Amorphous deposits labeled by the antibody are present in the endoneurium, sometimes in perivascular regions (arrow) or unrelated to vessels (arrowheads).

CONCLUSIONS

The Val 30 Met mutation is considered the most frequent mutation of the TTR gene. The clinical phenotype of this point mutation has been extensively described in an original description by Andrade.¹ Patients usually present with a painful distal sensory polyneuropathy with features of dysautonomia starting in the second or third decade of life. Dissociated sensory loss is considered a key feature of amyloid neuropathy, and weakness is usually a late finding.²

Recent reports have emphasized that the clinical spectrum of familial amyloid neuropathy is indeed heterogeneous.³ Moreover, symptoms of this condition may start in the elderly.⁴

Familial amyloid neuropathy with the Val 30 Met mutation in the TTR gene may be considered in old patients with rapidly progressing polyneuropathy.

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