Córnea verticilata - marcador clínico da doença de Fabry: relato de caso

Abstract

Fabry's disease is a rare X-linked lysosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of alpha-galactosidase A activity. The progressive accumulation of GL in tissues results in the clinical manifestations of the disease, that are more evident in hemizygous males, and include angiokeratomas, acroparesthesia, cornea verticillata, cardiac and kidney involvement, cerebrovascular manifestations. A family with Fabry's disease including 2 female patients and 3 male patients is reported. The patients were submitted to complete medical history, ophthalmological examination and alpha-galactosidase activity test. Cornea verticillata was a constant finding in all patients. This demonstrates the important role of the ophtalmological examination for the diagnosis of Fabry's disease since the eye findings are so characteristic of the disease.

Fabry disease - importance of screening in cornea verticillata: case report

“…Many female carriers have normal α-Gal A enzyme activity, although, demonstration of decreased α-Gal A enzyme activity is diagnostic of the carrier state. The screening for female carriers can be done with the ophthalmic examination based on the presence of cornea verticillata present in 70-90% of females carrier (5,9) .…”

Adesão do paciente com Doença de Fabry ao tratamento / Adherence of the patient with Fabry's Disease to the treatment

“…Nos homens, o diagnóstico definitivo é feito pela detecção da atividade da enzima α galactosidase. Essa atividade é inferior a 3% do normal (CORDEIRO et al, 2007).…”

“…A agalsidase alfa (Replagal®), sintetizada em cultura de fibroblastos humanos incrementados com promotores para a transcrição do gene da α -galactosidase, atua como catalisadora da hidrólise de Gb3, clivando o resíduo terminal da molécula. Há também outra enzima, algasidase beta (Fabrazyme®), estrutural e funcionalmente similar à primeira, mas produzida em ovários de hamsters chineses e dotada de diferente composição glicídica, resultando em respostas distintas (CORDEIRO et al, 2007).…”