A case of familial amyloid polyneuropathy type I of Greek origin

Abstract

SUMMARY
Familial amyloid polyneuropathy is a rare hereditary disease.
We present the case of a thirty-seven-year-old woman
with sensorimotor neuropathy, which started five years ago
accompanied by diarrhoea, urine incontinence and orthostatic
hypotension during the last two years. This clinical
constellation resulted in burns of the upper and lower limbs,
walking disturbance and a loss of weight of ten kilograms.
The patients mother had a history of sensory neuropathy,
heart failure and gastrointestinal problems and died at the
age of forty. Our patient underwent a sural nerve biopsy,
which showed amyloid deposits. A blood sample analysed
further by polyacrylamide gel electrophoresis followed by
isoelectric focusing revealed that our patient had a normal
transthyretin band although present in decreased concentration
and an extra band indistinguishable from the mutant
transthyretin (Val30Met). Subsequent extraction of
DNA, amplification of exon 2 and restriction by Nsi I confirmed
our patients heterozygosity for the amyloidogenic
mutant transthyretin. We referred our patient for liver
transplantation, the only available therapeutic modality to
date known to halt the inexorable progression of the disease.