title: Fabry disease, do we think enough about this multisystemic disorder? A presentation of three cases in a Serbian family.
abstract: BACKGROUND
  Fabry Disease is a rare, X-chromosomal inherited lysosomal storage disease with a consequent intracellular accumulation of neutral glycosphingolipids in various tissues. This can cause skin and ocular lessions, progressive renal, cardiac or cerebrovascular disorders. If a person in a family has Fabry disease, other family members including even extended relatives, may also be at risk.
  
  
  METHODS
  We presented three cases pointed out various manifestation of Fabry disease, that illustrate a possible cause for otherwise unexplained cardiac hypertrophy and various rhythm and conduction abnormalities.
  
  
  CONCLUSIONS
  Although most symptoms begin in childhood, various manifestations often lead to misdiagnosis and clinical diagnosis is frequently delayed for many years, even decades. Enzyme replacement therapy has become available, pointing out the importance of early diagnosis so that treatment can be initiated before irreversible organ damage.
authors: Clinic of Cardiology, Institute of Cardiovascular Diseases of Vojvodina, Sremska Kamenica, Serbia. dejsakac@open.telekom.rs
authors: Dejan
authors: D
authors: Sakac
authors: Goran
authors: G
authors: Koraćević
authors: Tatjana
authors: T
authors: Pavlica
authors: Slobodan
authors: S
authors: Sekulić
mesh_terms: D000328:Adult; D000795:Fabry Disease / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D055771:Serbia; D055815:Young Adult