Fabry's disease: Difference between revisions
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{{CMG}}; {{AE}} {{AN}} {{Neepa Shah}} | {{CMG}}; {{AE}} {{AN}} {{Neepa Shah}} | ||
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==[[Fabry's disease overview|Overview]] == | ==[[Fabry's disease overview|Overview]] == | ||
*'''Fabry's disease''' (also known as '''alpha-galactosidase A deficiency, ceramide trihexosidase deficiency, angiokeratoma corporis diffusum)''' is an [[X-linked recessive]] inherited [[Lysosomal storage disease|lysosomal storage disorder.]] | *'''Fabry's disease''' (also known as '''alpha-galactosidase A deficiency, ceramide trihexosidase deficiency, angiokeratoma corporis diffusum, Anderson Fabry disease)''' is an [[X-linked recessive]] inherited [[Lysosomal storage disease|lysosomal storage disorder.]] | ||
*It occurs as a result of the body's inability to make an enzyme alpha-galactosidase A. This enzyme in-turn is responsible for breaking down a type of fat called [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|globotriaosylceramide]] (Gb3 or GL-3) into building blocks that are used by the cells of the body. | *It occurs as a result of the body's inability to make an enzyme [[alpha-galactosidase A.]] This enzyme in-turn is responsible for breaking down a type of fat called [[Globotriaosylceramide 3-beta-N-acetylgalactosaminyltransferase|globotriaosylceramide]] (Gb3 or GL-3) into building blocks that are used by the cells of the body. | ||
*The enzyme is encoded by the GLA gene located on the long arm of the X chromosome (q21-22). | |||
*The abnormal accumulation of this fat typically in three main organ systems namely the brain, heart and kidney is responsible for the varied manifestations associated with the disease | *The abnormal accumulation of this fat typically in three main organ systems namely the brain, heart and kidney is responsible for the varied manifestations associated with the disease | ||
*Fabry's disease affects an estimated 1 in 40,000 to 60,000 males. The rate of prevalence is more common in men than women , with the rate of prevalence in women rather undetermined. | |||
*Milder, late-onset forms of the disorder are probably more common than the classic, severe form. | |||
==[[Fabry's disease historical perspective|Historical Perspective]]== | ==[[Fabry's disease historical perspective|Historical Perspective]]== | ||
* Anderson - Fabry disease was first described at the end of the 19th century by two dermatologists, Johannes Fabry in Germany and William Anderson in England. | |||
* In 1989 the origin of one of its many clinical names, "angiokeratoma corporis diffusum" was first identified by fabry as he described a clinical case of a13-year-old patient affected by nodular purpura and subsequent albuminuria. In that same year Anderson described the clinical case of a systemic disorder affecting a patient aged 39 with angiokeratomas, proteinuria, finger deformities, varicose veins and lymphedema. | |||
* The first ten years of the 20th century identified other similar cases. | |||
* In the year 1912, Madden illustrated the clinical case of a young Egyptian patient with diffuse angiokeratomas followed in 1915 by Fabry who reproposed this condition as "Angiokeratoma corporis naeviforme". | |||
* In 1947 Pompen speculated the origin of Anderson - Fabry disease as rather “familial” after the clinical case of two brothers dying of a similar disease was identified. | |||
* Anderson - Fabry Disease is a multi-systemic disorder caused by the build-up inside lysosomes of globotriaosylceramide or Gb3, the accumulated lipid material discovered in 1963 by Sweeley e Klionsky.In | |||
* In 1964 the clinical features of the main two phenotypes of the disease, the classical form and the atypical variants were described. | |||
* In the ‘70s the enzyme involved in the metabolism of Gb3 was found to be α-galactosidase A, whose functional deficit causes the disease. The enzyme is encoded by the GLA gene - described in 1974 - located in the long arm of the X chromosome (q21-22). | |||
* In the mid-1990s the many efforts to replace the lacking enzyme were successful and further led to the enzymatic replacement therapy for Anderson - Fabry disease. [[Tay-Sachs disease#cite%20note-38|[1]]] | |||
==[[Fabry's disease classification|Classification]]== | ==[[Fabry's disease classification|Classification]]== | ||
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* [http://www.apmf-fabry.org/ Fabry's Disease Association] | * [http://www.apmf-fabry.org/ Fabry's Disease Association] | ||
== References == | |||
[[Tay-Sachs disease#cite%20note-38|[1]]] Caterina Bartolotta, Marcello Filogamo, Paolo Colomba, Carmela Zizzo, Giuseppe Albeggiani, Simone Scalia, Daniele Francofonte, Giuseppe Cammarata, Vincenzo Savica, Giovanni Duro, FP907 | |||
HISTORY OF ANDERSON - FABRY DISEASE, ''Nephrology Dialysis Transplantation'', Volume 30, Issue suppl_3, 1 May 2015, Page iii379, <nowiki>https://doi.org/10.1093/ndt/gfv186.08</nowiki> | |||
[[fr:Maladie de Fabry]] | [[fr:Maladie de Fabry]] | ||
{{WikiDoc Help Menu}} | {{WikiDoc Help Menu}} | ||
Revision as of 19:56, 16 August 2020
Template:DiseaseDisorder infobox
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American Roentgen Ray Society Images of Fabry's disease |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2] Neepa Shah, M.B.B.S.[3]
Synonyms and keywords:
Overview
- Fabry's disease (also known as alpha-galactosidase A deficiency, ceramide trihexosidase deficiency, angiokeratoma corporis diffusum, Anderson Fabry disease) is an X-linked recessive inherited lysosomal storage disorder.
- It occurs as a result of the body's inability to make an enzyme alpha-galactosidase A. This enzyme in-turn is responsible for breaking down a type of fat called globotriaosylceramide (Gb3 or GL-3) into building blocks that are used by the cells of the body.
- The enzyme is encoded by the GLA gene located on the long arm of the X chromosome (q21-22).
- The abnormal accumulation of this fat typically in three main organ systems namely the brain, heart and kidney is responsible for the varied manifestations associated with the disease
- Fabry's disease affects an estimated 1 in 40,000 to 60,000 males. The rate of prevalence is more common in men than women , with the rate of prevalence in women rather undetermined.
- Milder, late-onset forms of the disorder are probably more common than the classic, severe form.
Historical Perspective
- Anderson - Fabry disease was first described at the end of the 19th century by two dermatologists, Johannes Fabry in Germany and William Anderson in England.
- In 1989 the origin of one of its many clinical names, "angiokeratoma corporis diffusum" was first identified by fabry as he described a clinical case of a13-year-old patient affected by nodular purpura and subsequent albuminuria. In that same year Anderson described the clinical case of a systemic disorder affecting a patient aged 39 with angiokeratomas, proteinuria, finger deformities, varicose veins and lymphedema.
- The first ten years of the 20th century identified other similar cases.
- In the year 1912, Madden illustrated the clinical case of a young Egyptian patient with diffuse angiokeratomas followed in 1915 by Fabry who reproposed this condition as "Angiokeratoma corporis naeviforme".
- In 1947 Pompen speculated the origin of Anderson - Fabry disease as rather “familial” after the clinical case of two brothers dying of a similar disease was identified.
- Anderson - Fabry Disease is a multi-systemic disorder caused by the build-up inside lysosomes of globotriaosylceramide or Gb3, the accumulated lipid material discovered in 1963 by Sweeley e Klionsky.In
- In 1964 the clinical features of the main two phenotypes of the disease, the classical form and the atypical variants were described.
- In the ‘70s the enzyme involved in the metabolism of Gb3 was found to be α-galactosidase A, whose functional deficit causes the disease. The enzyme is encoded by the GLA gene - described in 1974 - located in the long arm of the X chromosome (q21-22).
- In the mid-1990s the many efforts to replace the lacking enzyme were successful and further led to the enzymatic replacement therapy for Anderson - Fabry disease. [1]
Classification
Pathophysiology
Causes
Differentiating Fabry's disease from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | CT | MRI | Echocardiography or Ultrasound | Other Imaging Findings | Other Diagnostic Studies
Treatment
Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigation Therapies
Case Studies
External links
- Fabry Support & Information Group
- Template:NINDS
- Fabry's disease at NLM Genetics Home Reference
- Fabry's Disease Association
References
[1] Caterina Bartolotta, Marcello Filogamo, Paolo Colomba, Carmela Zizzo, Giuseppe Albeggiani, Simone Scalia, Daniele Francofonte, Giuseppe Cammarata, Vincenzo Savica, Giovanni Duro, FP907 HISTORY OF ANDERSON - FABRY DISEASE, Nephrology Dialysis Transplantation, Volume 30, Issue suppl_3, 1 May 2015, Page iii379, https://doi.org/10.1093/ndt/gfv186.08