Fabry sendromu/hastalığı

Kalıtsal - XL

Metabolik sendrom

Genel gelişme geriliği

Burun mukozası angiokeratomalarında epistaksis

Korneada opasite alanları

Retinada mikroanevrizmalar

Saç/sakal seyrek

Ağız mukozasında simetrik nokta/makül/papül biçiminde angiokeratomalar (alt dudak, yanak, dişeti)

Gingival hiperplazi (granülomlu yangı)

Myokard infarktı

Konjestif kalp yetmezliği

Kalp kapak sorunları

Hipertansiyon ve komplikasyonları

Kronik renal yetmezlik

Ekstremitelerde güçlü ağrı atakları (akroparestezi)

Deride angiokeratomalar

Terleme bozuklukları

Desnick RJ, Brady R, Barranger J, et al. Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy. Annals of Internal Medicine, 138:338–346, 2003
Deegan PB, Baehner AF, Barba Romero MA, et al. Natural history of Fabry disease in females in the Fabry Outcome Survey. Journal of Medical Genetics, 43(4):347-352, 2006
Eng CM, Fletcher J, Wilcox WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. Journal of Inherited Metabolic Disease, 30:184–192, 2007
Hoffmann B, Mayatepek E. Fabry Disease - often seen, rarely diagnosed. Deutsches Ärzteblatt International, 106(26), 440–447, 2009
Schiffmann R. Fabry disease. Pharmacology & Therapeutics, 122: 65-77, 2009
Haritha A, Jayakumar A. Syndromes as they relate to periodontal disease. Periodontology 2000, 56:65–86, 2011
Germain DP, Charrow J, Desnick RJ, et al. Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease. Journal of Medical Genetics, 52: 353-358, 2015