title: Evolution of Fabry disease in male patients: the Greek experience.
abstract: Fabry disease is a progressive metabolic disorder with a clinical course characterized by different phases and a variety of disease manifestations. The first symptoms generally appear in childhood or early adolescence and are followed by late life-threatening complications involving vascular, renal, cardiac, and cerebral systems. We report the clinical and biochemical characteristics of 16 male patients from 10 unrelated families who represent almost the entire cohort of known Fabry patients in Greece. Despite the presence of early symptoms in almost every patient (mean age at onset of symptoms 15.6 years), the diagnosis was delayed for a mean of about 18 years (mean age of diagnosis 36 years). Patients are currently monitored and the majority (15 out 16 patients) treated with Enzyme Replacement Therapy.
authors.affiliation: General Hospital G. Hatzikosta, Ioannina, Greece.
authors.forename: E
authors.initials: E
authors.lastname: Andrikos
authors.forename: C
authors.initials: C
authors.lastname: Iatrou
authors.forename: J N
authors.initials: JN
authors.lastname: Boletis
authors.forename: A
authors.initials: A
authors.lastname: Diamandopoulos
authors.forename: C
authors.initials: C
authors.lastname: Katsinas
authors.forename: K
authors.initials: K
authors.lastname: Kalaitzidis
authors.forename: A
authors.initials: A
authors.lastname: Galinas
authors.forename: A
authors.initials: A
authors.lastname: Xaidara
authors.forename: M
authors.initials: M
authors.lastname: Pappas
authors.forename: K C
authors.initials: KC
authors.lastname: Siamopoulos
mesh_terms: D000293:Adolescent; D000328:Adult; D000367:Age Factors; D017668:Age of Onset; D018450:Disease Progression; D000795:Fabry Disease / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D005610:Freedom; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006306:Health Surveys; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000628:therapy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011788:Quality of Life; D006435:Renal Dialysis; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D000519:alpha-Galactosidase