Fabry Disease

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M Beck - One of the best experts on this subject based on the ideXlab platform.

  • Fabry Disease a review of current management strategies
    QJM: An International Journal of Medicine, 2010
    Co-Authors: Atul Mehta, Ilkka Kantola, Arndt Rolfs, M Beck, Francois Eyskens, Claudio Feliciani, Uma Ramaswami, A Rivera, S Waldek, Dominique P. Germain
    Abstract:

    Fabry Disease is an X-linked inherited condition due to the absence or reduction of α-galactosidase activity in lysosomes, that results in accumulation of globotriaosylceramide (Gb3) and related neutral glycosphingolipids. Manifestations of Fabry Disease include serious and progressive impairment of renal and cardiac function. In addition, patients experience pain, gastrointestinal disturbance, transient ischaemic attacks and strokes. Additional effects on the skin, eyes, ears, lungs and bones are often seen. The first symptoms of classic Fabry Disease usually appear in childhood. Despite being X-linked, females can suffer the same severity of symptoms as males, and life expectancy is reduced in both females and males. Enzyme replacement therapy (ERT) can stabilize the progression of the Disease. The rarity of the classic form of Fabry Disease, however, means that there is a need to improve the knowledge and understanding that the majority of physicians have concerning Fabry Disease, in order to avoid misdiagnosis and/or delayed diagnosis. This review aims to raise awareness of the signs and symptoms of Fabry Disease; to provide a general diagnostic algorithm and to give an overview of the effects of ERT and concomitant treatments. We highlight a need to develop comprehensive international guidelines to optimize ERT and adjunctive therapy in patients with Fabry Disease, including females and children.

  • Anderson–Fabry Disease: Clinical manifestations of Disease in female heterozygotes
    Journal of Inherited Metabolic Disease, 2001
    Co-Authors: C. Whybra, Chr. Kampmann, I. Willers, J. Davies, B. Winchester, J. Kriegsmann, K. Brühl, S. Bunge, M Beck
    Abstract:

    Anderson–Fabry Disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal α-galactosidase A. Clinical manifestations of Anderson–Fabry Disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular Disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the Disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson–Fabry Disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the Disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular Disease, and gastrointestinal and heart problems. It therefore appears that Anderson–Fabry Disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant Disease.

  • anderson Fabry Disease clinical manifestations of Disease in female heterozygotes
    Journal of Inherited Metabolic Disease, 2001
    Co-Authors: Catharina Whybra, Chr. Kampmann, I. Willers, J. Davies, B. Winchester, J. Kriegsmann, K. Brühl, S. Bunge, M Beck
    Abstract:

    Anderson–Fabry Disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal α-galactosidase A. Clinical manifestations of Anderson–Fabry Disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular Disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the Disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson–Fabry Disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the Disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular Disease, and gastrointestinal and heart problems. It therefore appears that Anderson–Fabry Disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant Disease.

K. Brühl - One of the best experts on this subject based on the ideXlab platform.

  • Anderson–Fabry Disease: Clinical manifestations of Disease in female heterozygotes
    Journal of Inherited Metabolic Disease, 2001
    Co-Authors: C. Whybra, Chr. Kampmann, I. Willers, J. Davies, B. Winchester, J. Kriegsmann, K. Brühl, S. Bunge, M Beck
    Abstract:

    Anderson–Fabry Disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal α-galactosidase A. Clinical manifestations of Anderson–Fabry Disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular Disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the Disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson–Fabry Disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the Disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular Disease, and gastrointestinal and heart problems. It therefore appears that Anderson–Fabry Disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant Disease.

  • anderson Fabry Disease clinical manifestations of Disease in female heterozygotes
    Journal of Inherited Metabolic Disease, 2001
    Co-Authors: Catharina Whybra, Chr. Kampmann, I. Willers, J. Davies, B. Winchester, J. Kriegsmann, K. Brühl, S. Bunge, M Beck
    Abstract:

    Anderson–Fabry Disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal α-galactosidase A. Clinical manifestations of Anderson–Fabry Disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular Disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the Disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson–Fabry Disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the Disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular Disease, and gastrointestinal and heart problems. It therefore appears that Anderson–Fabry Disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant Disease.

S. Bunge - One of the best experts on this subject based on the ideXlab platform.

  • Anderson–Fabry Disease: Clinical manifestations of Disease in female heterozygotes
    Journal of Inherited Metabolic Disease, 2001
    Co-Authors: C. Whybra, Chr. Kampmann, I. Willers, J. Davies, B. Winchester, J. Kriegsmann, K. Brühl, S. Bunge, M Beck
    Abstract:

    Anderson–Fabry Disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal α-galactosidase A. Clinical manifestations of Anderson–Fabry Disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular Disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the Disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson–Fabry Disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the Disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular Disease, and gastrointestinal and heart problems. It therefore appears that Anderson–Fabry Disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant Disease.

  • anderson Fabry Disease clinical manifestations of Disease in female heterozygotes
    Journal of Inherited Metabolic Disease, 2001
    Co-Authors: Catharina Whybra, Chr. Kampmann, I. Willers, J. Davies, B. Winchester, J. Kriegsmann, K. Brühl, S. Bunge, M Beck
    Abstract:

    Anderson–Fabry Disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal α-galactosidase A. Clinical manifestations of Anderson–Fabry Disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular Disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the Disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson–Fabry Disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the Disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular Disease, and gastrointestinal and heart problems. It therefore appears that Anderson–Fabry Disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant Disease.

Chr. Kampmann - One of the best experts on this subject based on the ideXlab platform.

  • Anderson–Fabry Disease: Clinical manifestations of Disease in female heterozygotes
    Journal of Inherited Metabolic Disease, 2001
    Co-Authors: C. Whybra, Chr. Kampmann, I. Willers, J. Davies, B. Winchester, J. Kriegsmann, K. Brühl, S. Bunge, M Beck
    Abstract:

    Anderson–Fabry Disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal α-galactosidase A. Clinical manifestations of Anderson–Fabry Disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular Disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the Disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson–Fabry Disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the Disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular Disease, and gastrointestinal and heart problems. It therefore appears that Anderson–Fabry Disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant Disease.

  • anderson Fabry Disease clinical manifestations of Disease in female heterozygotes
    Journal of Inherited Metabolic Disease, 2001
    Co-Authors: Catharina Whybra, Chr. Kampmann, I. Willers, J. Davies, B. Winchester, J. Kriegsmann, K. Brühl, S. Bunge, M Beck
    Abstract:

    Anderson–Fabry Disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal α-galactosidase A. Clinical manifestations of Anderson–Fabry Disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular Disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the Disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson–Fabry Disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the Disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular Disease, and gastrointestinal and heart problems. It therefore appears that Anderson–Fabry Disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant Disease.

I. Willers - One of the best experts on this subject based on the ideXlab platform.

  • Anderson–Fabry Disease: Clinical manifestations of Disease in female heterozygotes
    Journal of Inherited Metabolic Disease, 2001
    Co-Authors: C. Whybra, Chr. Kampmann, I. Willers, J. Davies, B. Winchester, J. Kriegsmann, K. Brühl, S. Bunge, M Beck
    Abstract:

    Anderson–Fabry Disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal α-galactosidase A. Clinical manifestations of Anderson–Fabry Disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular Disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the Disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson–Fabry Disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the Disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular Disease, and gastrointestinal and heart problems. It therefore appears that Anderson–Fabry Disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant Disease.

  • anderson Fabry Disease clinical manifestations of Disease in female heterozygotes
    Journal of Inherited Metabolic Disease, 2001
    Co-Authors: Catharina Whybra, Chr. Kampmann, I. Willers, J. Davies, B. Winchester, J. Kriegsmann, K. Brühl, S. Bunge, M Beck
    Abstract:

    Anderson–Fabry Disease is a rare, X-chromosomal lipid storage disorder caused by a deficiency of lysosomal α-galactosidase A. Clinical manifestations of Anderson–Fabry Disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular Disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the Disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson–Fabry Disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the Disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular Disease, and gastrointestinal and heart problems. It therefore appears that Anderson–Fabry Disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X-linked dominant Disease.