Dados do Trabalho

Título

GASTROINTESTINAL TRACT MANIFESTATIONS IN PATIENTS WITH A DIAGNOSIS OF FABRY'S DISEASE IN FOLLOW-UP CARE BY A NEUROLOGY TEAM IN CUIABA

Resumo

Introduction: Fabry disease (FD) is an inborn metabolic error linked to the X-chromosome, affecting the GLA gene, characterized by a lysosomal storage disorder of the globotriaosylceramide (Gb3). Its pathophysiology is based on the absence or dysfunction of alpha-galactosidase, with protein accumulation in a variety of cells in the body, with cytotoxic, pro-inflammatory and pro-fibrotic effects. Likewise, the gastrointestinal tract (GIT) is affected, with deposit primarily in the autonomic intestinal ganglia, generating intestinal dysmotility, and associated manifestations. It is considered a rare disease, predominantly diagnosed in men, affecting one in every 117,000 live births. Objective: The aim is to describe specific manifestations of the GIT, such as abdominal pain, nausea, and constipation, in patients with confirmed FD followed up at a neurology outpatient clinic. Methods: A systematic literature review was conducted based on the PUBMED and UPTODATE databases using keywords as “Fabry disease”, “Gastrointestinal manifestations” and “Neurological Disorders” to compare data acquired from standardized GIT symptoms questionnaires that were regularly applied. Results: Six patients diagnosed with FD were interviewed of whom 2 were men and 4 women, aged between 37 and 66 with a mean age of 49 years, presenting a mean time of diagnosis of 7.6 years; of these 5 (74 %) were on enzyme replacement therapy (ERT) with alpha-galactosidase. It was observed that 100% of the patients had some gastrointestinal manifestation in their lives, dyspepsia being the main symptom, which remains a lifelong symptom in 34% of them with a frequency that varies from weekly to daily, appearing after main meals. In addition, 16% of the interviewed who had not yet started ERT reported nausea and vomiting, as well as abdominal cramps since childhood, lasting approximately a week, with a recurrence of every two months. Along the years, this slowly evolved to daily cramps associated with constipation at the age of 39, with a 4-day stool interval. Conclusion: In sum, it has been observed that the use of ERT is important to prevent progression of various manifestations, in particular GIT disorders, caused by FD that threaten patients’ lives and well-being. In addition, only patients who had not been on ERT progressed to more severe symptoms compared to those that were on it.

Palavras Chave

Fabry disease; gastrointestinal disorders

Área

Neurogenética