Diagnostic strategy for females suspected of Fabry disease.
Clin Genet
; 97(4): 655-660, 2020 04.
Article
en En
| MEDLINE
| ID: mdl-31860127
ABSTRACT
A total of 11 948 females suspicious of Fabry disease were tested by a combined biochemical and genetic approach. The enzyme activity, together with the concentration of lyso-GL-3 (lyso-Gb3) biomarker in dried blood spots (DBS), substantially improved the diagnostic detection of Fabry disease in females compared to the enzyme activity alone. Abnormal values for both were highly suspicious of Fabry disease (97% positive predictive value [PPV], similar to PPV in males). In cases with one abnormal biochemical value, elevated lyso-GL-3 is a far more important indicator than low enzyme activity (39% PPV vs 6% PPV). Cases with clearly negative results for both biochemical parameters are unlikely to have Fabry disease, even in clinically highly suspicious cases.
Palabras clave
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Esfingolípidos
/
Glucolípidos
/
Biomarcadores
/
Enfermedad de Fabry
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
Límite:
Female
/
Humans
/
Male
Idioma:
En
Revista:
Clin Genet
Año:
2020
Tipo del documento:
Article
País de afiliación:
Austria