Fabry disease: clinical and genotypic aspects of three cases in first degree relatives
Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy. Angiokeratomas are asymptomatic lesions present as the init...
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| Published in: | Anais brasileiros de dermatología Vol. 89; no. 1; pp. 141 - 143 |
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01-01-2014
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| Abstract | Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy. Angiokeratomas are asymptomatic lesions present as the initial manifestation and usually less appreciated. Their detection is important for early diagnosis and institution of treatment with enzyme replacement therapy, which prevents late complications reducing morbidity and mortality. We report a case of a male teenager with acroparestesias and angiokeratomas. Family medical research discovered that his mother and brother had similar signs and symptoms and that the three patients had the same mutation in the gene encoding the enzyme, confirming the diagnosis. |
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| AbstractList | Fabry disease is an X-linked, lysosomal storage disease caused by the inherited
deficiency of the enzyme
α
-galactosidase A. The diagnosis is usually
late, with renal, cardiovascular and/or cerebral complications that reduce life
expectancy. Angiokeratomas are asymptomatic lesions present as the initial
manifestation and usually less appreciated. Their detection is important for early
diagnosis and institution of treatment with enzyme replacement therapy, which
prevents late complications reducing morbidity and mortality. We report a case of a
male teenager with acroparestesias and angiokeratomas. Family medical research
discovered that his mother and brother had similar signs and symptoms and that the
three patients had the same mutation in the gene encoding the enzyme, confirming the
diagnosis. Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with renal, cardiovascular and/or cerebral complications that reduce life expectancy. Angiokeratomas are asymptomatic lesions present as the initial manifestation and usually less appreciated. Their detection is important for early diagnosis and institution of treatment with enzyme replacement therapy, which prevents late complications reducing morbidity and mortality. We report a case of a male teenager with acroparestesias and angiokeratomas. Family medical research discovered that his mother and brother had similar signs and symptoms and that the three patients had the same mutation in the gene encoding the enzyme, confirming the diagnosis. |
| Author | Badiz, Thais Cardoso de Mello Tucunduva Porro, Adriana Maria Silva, Letícia Bueno Nunes da Enokihara, Milvia Maria Simões e Silva |
| AuthorAffiliation | 1 MD, Dermatologist - Graduate course in clinical dermatology, Dermatology Department, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil 3 MD, PhD - Dermatopathologist at the Dermatology and Pathology departments, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil 2 MD, Dermatologist - Graduate course in Dermatoscopy, Dermatology Department, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil 4 MD, PhD - Adjunct Professor of the Dermatology Department, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil |
| AuthorAffiliation_xml | – name: 4 MD, PhD - Adjunct Professor of the Dermatology Department, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil – name: 1 MD, Dermatologist - Graduate course in clinical dermatology, Dermatology Department, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil – name: 3 MD, PhD - Dermatopathologist at the Dermatology and Pathology departments, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil – name: 2 MD, Dermatologist - Graduate course in Dermatoscopy, Dermatology Department, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil – name: Universidade Federal de São Paulo |
| Author_xml | – sequence: 1 givenname: Letícia Bueno Nunes da surname: Silva fullname: Silva, Letícia Bueno Nunes da organization: Universidade Federal de São Paulo, Escola Paulista de Medicina, Dermatology Department, Graduate course in clinical dermatology, São PauloSP, Brazil, MD, Dermatologist - Graduate course in clinical dermatology, Dermatology Department, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil – sequence: 2 givenname: Thais Cardoso de Mello Tucunduva surname: Badiz fullname: Badiz, Thais Cardoso de Mello Tucunduva organization: Universidade Federal de São Paulo, Escola Paulista de Medicina, Dermatology Department, Graduate course in Dermatoscopy, São PauloSP, Brazil, MD, Dermatologist - Graduate course in Dermatoscopy, Dermatology Department, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil – sequence: 3 givenname: Milvia Maria Simões e Silva surname: Enokihara fullname: Enokihara, Milvia Maria Simões e Silva organization: Universidade Federal de São Paulo, Escola Paulista de Medicina, Dermatology and Pathology departments, São PauloSP, Brazil, MD, PhD - Dermatopathologist at the Dermatology and Pathology departments, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil – sequence: 4 givenname: Adriana Maria surname: Porro fullname: Porro, Adriana Maria organization: Universidade Federal de São Paulo, Escola Paulista de Medicina, Dermatology Department, São PauloSP, Brazil, MD, PhD - Adjunct Professor of the Dermatology Department, Escola Paulista de Medicina - Universidade Federal de São Paulo (EPM-UNIFESP) - São Paulo (SP), Brazil |
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| Keywords | Fabry disease alpha-Galactosidase Angiokeratoma |
| Language | English |
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| References_xml | – volume: 84 start-page: 367 year: 2009 ident: ref1 article-title: Fabry Disease publication-title: An Bras Dermatol contributor: fullname: Boggio P – volume: 5 start-page: 155 year: 2011 ident: ref5 article-title: Update on role of agalsidase alfa in management of Fabry disease publication-title: Drug Des Devel Ther doi: 10.2147/DDDT.S11985 contributor: fullname: Ramaswami U – volume: 35 start-page: 947 year: 2012 ident: ref10 article-title: Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis publication-title: Genet Mol Biol doi: 10.1590/S1415-47572012000600009 contributor: fullname: Alegra T – volume: 95 start-page: 86 year: 2006 ident: ref6 article-title: Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey publication-title: Acta Paediatr doi: 10.1080/08035250500275022 contributor: fullname: Ramaswami U – volume: 146 start-page: 425 year: 2007 ident: ref4 article-title: Narrative review: Fabry disease publication-title: Ann Intern Med doi: 10.7326/0003-4819-146-6-200703200-00007 contributor: fullname: Clarke JT – volume: 156 start-page: 832 year: 2010 ident: ref8 article-title: Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease publication-title: J Pediatr doi: 10.1016/j.jpeds.2009.11.007 contributor: fullname: Schiffmann R – volume: 146 start-page: 77 year: 2007 ident: ref9 article-title: Agalsidase-beta therapy for advanced Fabry disease: a randomized trial publication-title: Ann Intern Med doi: 10.7326/0003-4819-146-2-200701160-00148 contributor: fullname: Banikazemi M – volume: 122 start-page: 65 year: 2009 ident: ref2 article-title: Fabry disease publication-title: Pharmacol Ther doi: 10.1016/j.pharmthera.2009.01.003 contributor: fullname: Schiffmann R – volume: 155 start-page: S19 year: 2009 ident: ref3 article-title: Guidelines to diagnosis and monitoring of Fabry Disease and review of treatment experiences publication-title: J Pediatr doi: 10.1016/j.jpeds.2009.07.003 contributor: fullname: Martins AM – volume: 372 start-page: 1427 year: 2008 ident: ref7 article-title: Fabry's disease publication-title: Lancet doi: 10.1016/S0140-6736(08)61589-5 contributor: fullname: Zarate YA – volume: 122 start-page: 65 year: 2009 end-page: 77 article-title: Fabry disease publication-title: Pharmacol Ther contributor: fullname: Schiffmann, R – volume: 35 start-page: 947 year: 2012 end-page: 954 article-title: Enzyme replacement therapy for Fabry disease: A systematic review and meta-analysis publication-title: Genet Mol Biol contributor: fullname: Alegra, T; Vairo, F; Souza, MV de; Krug, BC; Schwartz, IV – volume: 5 start-page: 155 year: 2011 end-page: 173 article-title: Update on role of agalsidase alfa in management of Fabry disease publication-title: Drug Des Devel Ther contributor: fullname: Ramaswami, U – volume: 156 start-page: 832 year: 2010 end-page: 837 article-title: Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease publication-title: J Pediatr contributor: fullname: Schiffmann, R; Martin, RA; Reimschisel, T; Johnson, K; Castaneda, V; Lien, YH – volume: 372 start-page: 1427 year: 2008 end-page: 1435 article-title: Fabry's disease publication-title: Lancet contributor: fullname: Zarate, YA; Hopkin, JR – volume: 146 start-page: 77 year: 2007 end-page: 86 article-title: Agalsidase-beta therapy for advanced Fabry disease: a randomized trial publication-title: Ann Intern Med contributor: fullname: Banikazemi, M; Bultas, J; Waldek, S; Wilcox, WR; Whitley, CB; McDonald, M – volume: 146 start-page: 425 year: 2007 end-page: 433 article-title: Narrative review: Fabry disease publication-title: Ann Intern Med contributor: fullname: Clarke, JT – volume: 84 start-page: 367 year: 2009 end-page: 376 article-title: Fabry Disease publication-title: An Bras Dermatol contributor: fullname: Boggio, P; Luna, PC; Abad, ME; Larralde, M – volume: 95 start-page: 86 year: 2006 end-page: 92 article-title: Clinical manifestations of Fabry disease in children: Data from the Fabry Outcome Survey publication-title: Acta Paediatr contributor: fullname: Ramaswami, U; Whybra, C; Parini, R; Pintos-Morell, G; Mehta, A; Sunder-Plassmann, G – volume: 155 start-page: S19 year: 2009 end-page: S31 article-title: Guidelines to diagnosis and monitoring of Fabry Disease and review of treatment experiences publication-title: J Pediatr contributor: fullname: Martins, AM; D'Almeida, V; Kyosen, SO; Takata, ET; Delgado, AG; Gonçalves, AM |
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| Snippet | Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α-galactosidase A. The diagnosis is usually late, with... Fabry disease is an X-linked, lysosomal storage disease caused by the inherited deficiency of the enzyme α -galactosidase A. The diagnosis is usually late,... |
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| SubjectTerms | Adolescent Adult alpha-Galactosidase Angiokeratoma Angiokeratoma - genetics Angiokeratoma - pathology Biopsy Case Report Child DERMATOLOGY Early Diagnosis Fabry disease Fabry Disease - genetics Fabry Disease - pathology Female Genotype Humans Male Mutation Siblings Skin Neoplasms - genetics Skin Neoplasms - pathology |
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| Title | Fabry disease: clinical and genotypic aspects of three cases in first degree relatives |
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