Dados do Trabalho

Título

Follow-up of individuals with hereditary transthyretin amyloidosis

Resumo

Introduction: Hereditary transthyretin amyloidosis is caused by a genetic mutation that leads to deposition of the malformed transthyretin protein in various organs and tissues. Symptoms include peripheral neuropathy, cardiac, renal, ocular, gastrointestinal involvement and carpal tunnel syndrome. Autonomic function is often undervalued and is often compromised from the onset of symptoms resulting in cardiac conduction defects, orthostatic hypotension, urinary retention, sweating abnormalities, and sexual dysfunction. Genetic testing in pre-symptomatic individuals is now widely available and may provide a proper follow-up. In clinical suspicion and altered complementary exams, the diagnosis must be confirmed through tissue biopsy showing the deposit of amyloid material.
Objectives: to make an early diagnosis of amyloidosis in asymptomatic carriers
Methods: Asymptomatic individuals with hereditary amyloidosis from the Neuromuscular Diseases of Neurology outpatient clinic of the Pedro Ernesto University Hospital in Rio de Janeiro are included in the study. A semi-annual follow-up is carried out and individuals are periodically submitted to neurological and neurophysiological examination, evaluation of small fiber neuropathy (through QST (quantative sensory testing), sympathetic-reflex response, dysautonomia questionnaire, heart rate variability) and cardiological evaluation.
Results: 10 individuals are being followed up and two individuals have developed signs and symptoms of the disease, confirming the deposit of amyloid material through salivary gland biopsy. A 32-year-old woman with dysautonomia and bilateral carpal tunnel syndrome has the Phe84Leu mutation and the index case was her father, who had a late diagnosis and died due to complications from the disease. A 22- year- old woman with Val50Met mutation presented small fiber neuropathy, with abolition of the reflex sympathetic response in the 4 limbs and QST abnormalities when compared to a healthy control matched by sex and age. The index case was his maternal aunt who died at age 38 due to dysautonomia.
Conclusion: hereditary amyloidosis can be difficult to diagnose, since its clinical manifestations are quite heterogeneous. An early diagnosis is essential for an effective treatment. Monitoring asymptomatic individuals is very important for early detection of the disease.

Palavras Chave

hereditary transthyretin amyloidosis; early detection, dysautonomia