A case of familial amyloid polyneuropathy type I of Greek origin

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Φορέας Ελληνική Γαστροεντερολογική Εταιρία
Συλλογή Annals of Gastroenterology A case of familial amyloid polyneuropathy type I of Greek origin
Επιμέρους συλλογή Case Reports
ΠεριγραφήSUMMARY 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 patient’s 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 patient’s 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.
Δημιουργός I.S. Papanikolaou, P. Cherakakis, N. Matikas, J.K. Triantafillidis, P.I. Rafailidis, S.P. Dourakis,
ΕκδότηςAnnals of Gastroenterology
ΠηγήAnnals of Gastroenterology; Volume 15, No 2 (2002)