Fabry Disease: Treatment and diagnosis

Abstract

SummaryFabry disease is an X-linked lysosomal disorder that results from a deficiency of the lysosomal enzyme a-galactosidase A leading to accumulation of glycolipids, mainly globotriaosylceramide in the cells from different tissues. Classical Fabry disease affects various organs. Clinical manifestations start at early age and include angiokeratoma, acroparesthesia, hypohydrosis, heat/exercise intolerance, gastrointestinal pain, diarrhea, and fever. The main complications of Fabry disease are more prominent after the age of 30 when kidney, heart, and/or cerebrovascular disorders appear. Most of the heterozygous females are symptomatic. Enzyme replacement therapy (ERT) is the only specific treatment for Fabry disease. The beneficial effect of ERT on different organs/systems has been extensively evaluated. Quality of life of patients receiving ERT is improved. Enzyme replacement stabilizes or slows the decline in renal function and reduces left ventricular hypertrophy. Fabry disease may be underdiagnosed because of nonspecific and multiorgan symptoms. Different screening strategies have been carried out in different at-risk populations in order to detect undiagnosed Fabry patients. An increasing knowledge about Fabry disease within the medical community increases the chances of patients to receive a timely diagnosis and, consequently, to access the appropriate therapy.

Angiokeratoma of Fordyce in man and woman — case reports

“…This rare disease is inherited in an X-linked recessive pattern, with almost exclusive male predominance. Fabry′s disease is the result of defective activity of the lysosomal enzyme alpha-galactosidase A, which leads to deposition of neutral glycosphingolipids, particularly trihexosyl ceramide, in many cells and tissues of the body, and patients frequently develop cardiac and renal disease [10].…”

Vascular tortuosities of the upper eyelid: A new clinical finding in Fabry patient screening

“…However, the number of patients is probably underestimated [3], because their symptoms are quite variable and unspecific, often leading to confusion with rheumatoid diseases or chronic inflammatory conditions [4]. A confirmatory diagnosis comes, on average, 14 years after the onset of the first symptoms for male adults and 16 years for females [5], three years for symptomatic children [6].…”

Vascular Tortuosities of the Upper Eyelid: A New Clinical Finding in Fabry Patient Screening

“…However, the number of patients is probably underestimated [3], because their symptoms are quite variable and unspecific, often leading to confusion with rheumatoid diseases or chronic inflammatory conditions [4]. A confirmatory diagnosis comes, on average, 14 years after the onset of the first symptoms for male adults and 16 years for females [5], three years for symptomatic children [6].…”