Fabry's disease: Difference between revisions

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Latest revision as of 20:07, 23 May 2022

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:

Differentiating Fabry's disease from other Diseases

Natural History, Complications and Prognosis

Diagnosis

Treatment

Case Studies

Case #1

External links

Fabry Support & Information Group
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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

[2] Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. Genet Med 2006;8: 539–548.

[3] Elleder M, Poupĕtová H, Kozich V . Fetal pathology in Fabry’s disease and mucopolysaccharidosis type I. Cesk Patol 1998;34:7–12.

[4] Thurberg BL, Politei JM . Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature. Hum Pathol 2012;43:610–614. [5] Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006 Apr;43(4):347-52. Epub 2005 Oct 14. Citation on PubMed or Free article on PubMed Central

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 ==[[Fabry's disease overview|Overview]]  ==
-*'''Fabry 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.
-*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 disease is a rare condition that can affect people regardless of their ethnic background. The prevalence for Fabry's disease is estimated to range from 0.27 to 1.69 per 100,000 in men, and 0.33 to 3.47 per 100,000 in women.
 *
 ==[[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]]==
-* Classic form- Most commonly seen in males. It is a severe form of the disease.
-* Atypical variant. Milder, late-onset forms of the disorder are probably more common than the classic, severe form.
-* Based upon complications
-** Cardiac variant
-** Renal variant
-** Non-neuropathic form
-** Neuropathic form
-*** Infantile form
-*** Juvenile form
 ==[[Fabry's disease pathophysiology|Pathophysiology]]==
@@ Line 73: / Line 43: @@
 ==Diagnosis==
-[[Fabry's disease history and symptoms|History and Symptoms]] | [[Fabry's disease physical examination|Physical Examination]] | [[Fabry's disease laboratory findings|Laboratory Findings]] | [[Fabry's disease electrocardiogram|Electrocardiogram]] | [[Fabry's disease CT|CT]] | [[Fabry's disease MRI|MRI]] | [[Fabry's disease echocardiography or ultrasound|Echocardiography or Ultrasound]] | [[Fabry's disease other imaging findings|Other Imaging Findings]] | [[Fabry's disease other diagnostic studies|Other Diagnostic Studies]]
 ==Treatment==
@@ Line 91: / Line 59: @@
 == 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
+[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>
+{{WikiDoc Help Menu}}
+[2] Eng CM, Germain DP, Banikazemi M, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. ''Genet Med'' 2006;8: 539–548.
+[3] Elleder M, Poupĕtová H, Kozich V . Fetal pathology in Fabry’s disease and mucopolysaccharidosis type I. ''Cesk Patol'' 1998;34:7–12.
+[4] Thurberg BL, Politei JM . Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature. ''Hum Pathol'' 2012;43:610–614.
 [[fr:Maladie de Fabry]]
-{{WikiDoc Help Menu}}
+[5] Deegan PB, Baehner AF, Barba Romero MA, Hughes DA, Kampmann C, Beck M; European FOS Investigators. Natural history of Fabry disease in females in the Fabry Outcome Survey. J Med Genet. 2006 Apr;43(4):347-52. Epub 2005 Oct 14. Citation on PubMed or Free article on PubMed Central
-{{WikiDoc Sources}}
 [[Category:Genetic disorders]]