Transthyretin-related hereditary amyloidosis in an Argentinian family with TTR Tyr114Cys mutation.

AGUIRRE MA; ELSA NUCIFORA; MARCELO RUGIERO; SORROCHE P.; SAEZ MS; DIEGO GIUNTA; MARIA LOURDES POSADAS MARTINEZ; BRUNO BOIETTI

AMYLOID

INFORMA HEALTHCARE

Año: 2017 vol. 24 p. 102 - 102

1350-6129

Transthyretin-related hereditary amyloidosis is an autosomaldominant inherited disease caused for mutations in thetransthyretin (TTR) gene. Corresponding to the varioustransthyretin gene mutations and a wide range of geographicaldistribution, this disorder presents diverse characteristicsin genotype-phenotype correlation. Familialamyloid polyneuropathy (FAP) is the more common clinicalpresentation and the Val30Met is its more frequentmutation described [1].Case reportWe present a 65-year-old female patient who has a history of3 years of recurrent episodes of perspiration and dizzinessfollowed by nausea, vomiting and syncope. She alsodeveloped distal paraesthesia and progressive autonomicdysfunction: orthostatic hypotension, decreased libido andalternating diarrhea and constipation. She lost weight andhad distal dysesthesias and muscle atrophy developed.Hypoesthesia in stocking-glove distribution and arreflexiawas found on physical examination. She did not showsymptoms of CNS involvement. Her elder sister died forbiopsy proven amyloid leptomeningitis and her 52-year-oldbrother presented the similar clinical picture.Amyloid deposition was found in sural nerve biopsy. MRIshowed no leptomeningeal lesion, cardiac evaluation andocular examination were unremarkable. TTR gene sequencingshowed the Tyr114Cys mutation.She was treated with tafamidis during four months, but shehad to stop due to recurrent vaginal infections, severe urinarytract infections, and admissions with abdominal pain andvomiting.ConclusionsWe present an Argentinian family with ATTR amyloidosiswith a Tyr114Cys mutation, which is extremely rare and thefirst reported in our country [2].