Fabry's disease: Difference between revisions

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Latest revision as of 20:07, 23 May 2022

Template:DiseaseDisorder infobox

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
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

[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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+__NOTOC__
 {{DiseaseDisorder infobox |
    Name           = Fabry disease|
@@ Line 14: / Line 15: @@
    MeshID         = D000795 |
 }}
-{{CMG}}{{AE}} {{AN}}
+{{Fabry's disease}}
+{{CMG}}; {{AE}}
-{{SK}} Anderson-Fabry disease; angiokeratoma corporis diffusum universale; alpha-glucosidase A deficiency; ceramide trihexosidase deficiency; hereditary dystopic lipidosis; GLA deficiency; Sweeley-Klionsky disease
-==Overview==
+==[[Fabry's disease overview|Overview]]  ==
-'''Fabry disease''' is an [[X-linked recessive]] inherited [[lysosomal storage disease]], characterized by abnormal accumulation of ceramide trihexose in cardiovascular and renal systems.
-==Pathophysiology==
+*
-A deficiency of the [[enzyme]] [[alpha galactosidase|alpha galactosidase A]] causes a [[glycolipid]] known as globotriaosylceramide (also abbreviated as Gb3, GL-3, or ceramide trihexoside) to accumulate within the [[blood vessel]]s, other tissues, and organs. This accumulation leads to an impairment of their proper function. The condition affects [[Zygosity|hemizygous]] males, as well as both [[Zygosity|heterozygous]] and [[Zygosity|homozygous]] females; males tend to experience the most severe clinical symptoms, while females vary from virtually no symptoms to those as serious as males. This variability is thought to be due to [[X-inactivation]] patterns during embryonic development of the female.
+*
-==Symptoms==
+==[[Fabry's disease historical perspective|Historical Perspective]]==
-Symptoms include [[anhidrosis]], [[fatigue (medical)|fatigue]], and red spots on skin. Some of the most common pathological symptoms includes skin [[lesions]] ([[angiokeratoma]]s), and a burning pain of the extremities. This pain can become very intense, especially when one has a fever. Angiokeratomas are tiny, painless [[papules]] that appear at any region of the body, but are predominant on the thighs, buttocks, lower abdomen, and groin. Ocular involvement may be present showing cornea verticillata (also known as vortex keratopathy); this corneal whorling does not have any effect on vision or eye function. Symptoms are typically first experienced in early childhood and can be very difficult to understand; the rarity of Fabry disease to many clinicians sometimes leads to misdiagnoses or ignorance. Manifestations of the disease usually increase in number and severity as an individual ages.
-Kidney complications are a common and serious effect of the disease; [[renal insufficiency]] and [[renal failure]] may worsen throughout life. [[Proteinuria]] is often the first sign of kidney involvement. [[Cardiac]] complications occur when Gb3 builds up in different heart cells; heart related effects worsen with age and may lead to increased risk of heart disease. Cerebrovascular effects lead to an increased risk of stroke. Other symptoms include an inability or decreased ability to sweat, fatigue, ringing in the ears ([[tinnitus]]), [[Vertigo (medical)|vertigo]], nausea, and diarrhea.
+==[[Fabry's disease classification|Classification]]==
-Fabry's disease may also have ocular involvement, such as the presence of corneal verticillata in the basal layers of the epithelium, conjunctival aneursyms, and spokelike cataracts.  Papilledema, macular edema, optic atrophy and retinal vascular dilation may also be present.
+==[[Fabry's disease pathophysiology|Pathophysiology]]==
+==[[Fabry's disease causes|Causes]]==
+==[[Fabry's disease differential diagnosis|Differentiating Fabry's disease from other Diseases]]==
+==[[Fabry's disease epidemiology and demographics|Epidemiology and Demographics]]==
+==[[Fabry's disease risk factors|Risk Factors]]==
+==[[Fabry's disease screening|Screening]]==
+==[[Fabry's disease natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
+==Diagnosis==
 ==Treatment==
-Until recently, treatment of Fabry disease targeted the [[symptomatic]] effects.  However, it is currently being treated at the cellular level through enzyme replacement therapy using [[Agalsidase alpha]] (Replagal) and [[Agalsidase beta]] (Fabrazyme®).  The cost of these drugs is problematic (approximately $170,000 US a year/patient) and remains a barrier to many patients in some countries. Enzyme replacement therapy (typically infused every two weeks) may be performed in the patient's home by the patients themselves. Enzyme replacement therapy is not a cure, and must be infused recurrently for maximum benefit.
-==Eponym==
+[[Fabry's disease medical therapy|Medical Therapy]] | [[Fabry's disease surgery|Surgery]] | [[Fabry's disease primary prevention|Primary Prevention]] | [[Fabry's disease secondary prevention|Secondary Prevention]] | [[Fabry's disease cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Fabry's disease future or investigational therapies|Future or Investigation Therapies]]
-* It is named for Johannes Fabry.<ref>{{WhoNamedIt|synd|1761}}</ref>
-==References==
+==Case Studies==
-{{reflist|2}}
+[[Fabry's disease case study one|Case #1]]
 ==External links==
-* [http://www.genzyme.com/]
 * [http://www.fabry.org/FSIG.nsf/Pages2/HomePage Fabry Support & Information Group]
-* [http://www.fabrycommunity.com/global/fc_p_hp_homepage.asp Fabry Community (Information, Causes, & Treatment - Est. by [[Genzyme Corporation]])]
-* [http://www.fabrycanada.com Canadian Fabry Association]
 * {{NINDS|fabrys}}
 * {{NLM|fabrydisease}}
 * [http://www.apmf-fabry.org/ 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, <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.
-[[de:Morbus Fabry]]
+[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]]
-[[fi:Fabryn tauti]]
+[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 Help Menu}}
-{{WikiDoc Sources}}
 [[Category:Genetic disorders]]