Department-related tasks and organ-targeted therapy in Fabry disease: an interdisciplinary challenge.
Fabry disease is a rare X-linked storage disorder leading to an accumulation of globotriaosylceramides in all cells carrying lysosomes. As the accumulation occurs in most organs, different medical specialties are involved in the diagnostics and therapy of Fabry disease. With this review of the 3 main specialties (cardiology, nephrology, and neurology) and, in addition, the adjacent specialties (ophthalmology and dermatology), we aim to discuss the division-related responsibilities and want to suggest an organ-related additional therapy besides enzyme replacement therapy.
Weidemann
Frank
F
Department of Medicine, Würzburg University Medical Center, Würzburg, Würzburg, Germany. weidemann_f@medizin.uni-wuerzburg.de
Sommer
Claudia
C
Duning
Thomas
T
Lanzl
Ines
I
Möhrenschlager
Matthias
M
Naleschinski
Dennis
D
Arning
Kathrin
K
Baron
Ralf
R
Niemann
Markus
M
Breunig
Frank
F
Schaefer
Roland
R
Strotmann
Jörg
J
Wanner
Christoph
C
D056947:Enzyme Replacement Therapy; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D000795:Fabry Disease / Q000150:complications / Q000175:diagnosis* / Q000628:therapy*; D006331:Heart Diseases / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D006801:Humans; D033183:Interdisciplinary Communication; D007674:Kidney Diseases / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D016030:Kidney Transplantation; D008279:Magnetic Resonance Imaging; D009422:Nervous System Diseases / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D010348:Patient Care Team; D006435:Renal Dialysis; D012873:Skin Diseases, Genetic / Q000175:diagnosis / Q000209:etiology / Q000628:therapy; D013038:Specialization