Clinical and diagnostic aspects of Fabry disease management: a narrative review with a particular focus on Brazilian experts' perspectives
J. inborn errors metab. screen
;
10: e20210028, 2022. graf
Article
in English
|
LILACS-Express
| LILACS
| ID: biblio-1365067
ABSTRACT
ABSTRACT Research on the genetics, epidemiology, and clinical manifestations of Fabry disease (FD) has increased significantly in recent years. However, some relevant clinical questions still need to be answered to develop better approaches to patient management. This review focuses on answering specific questions raised by Brazilian experts based on their experience in diagnosing and managing patients with FD. The questions are as follows What is the role of globotriaosylsphingosine in diagnosis? How does one proceed with the diagnosis if there is a variant of unknown significance? What are the earliest and most reliable markers of renal, cardiac, and neurological impairment? What is the prevalence of FD in patients with cryptogenic stroke? What is the average delay in diagnosis in patients with FD? Based on these questions, our objective was to highlight epidemiological, diagnostic, and clinical aspects relating to the literature in the FD field.
Full text:
Available
Index:
LILACS (Americas)
Type of study:
Diagnostic study
/
Risk factors
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2022
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
Hospital Infantil Albert Sabin/BR
/
Instituto Hospital de Base do Distrito Federal/BR
/
Quíron Reumatologia/BR
/
Takeda Pharmaceutical Company/BR
/
Universidade Estadual Paulista/BR
/
Universidade Federal de São Paulo/BR
/
Universidade Federal do Rio Grande do Sul/BR
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