Fabry's disease: Difference between revisions

	Fabry's disease Microchapters
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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
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

@@ Line 16: / Line 16: @@
 }}
 {{Fabry's disease}}
-{{CMG}}; {{AE}} {{AN}}
+{{CMG}}; {{AE}}
-{{SK}} Anderson-Fabry disease; angiokeratoma corporis diffusum universale; alpha-galactosidase A deficiency; ceramide trihexosidase deficiency; hereditary dystopic lipidosis; GLA deficiency; Sweeley-Klionsky disease
-==[[Fabry's disease overview|Overview]]==
+==[[Fabry's disease overview|Overview]]  ==
+*
+*
 ==[[Fabry's disease historical perspective|Historical Perspective]]==
@@ Line 26: / Line 28: @@
 ==[[Fabry's disease classification|Classification]]==
-==Pathophysiology==
+==[[Fabry's disease pathophysiology|Pathophysiology]]==
-*Fabry's disease follows an [[X-linked recessive]] [[inheritance]] pattern.
-*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, mononuclear [[phagocytes]], [[neurons]], 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.
-==Epidemiology and Demographics==
+==[[Fabry's disease causes|Causes]]==
-The [[prevalence]] of Fabry disease is estimated to range from 1:17,000 to 1:117,000 males in Caucasian populations.<ref name="pmid11889412">{{cite journal |author=Branton MH, Schiffmann R, Sabnis SG, ''et al.'' |title=Natural history of Fabry renal disease: influence of alpha-galactosidase A activity and genetic mutations on clinical course |journal=[[Medicine]] |volume=81 |issue=2 |pages=122–38 |year=2002 |month=March |pmid=11889412 |doi= |url=}}</ref><ref name="pmid9918480">{{cite journal |author=Meikle PJ, Hopwood JJ, Clague AE, Carey WF |title=Prevalence of lysosomal storage disorders |journal=[[JAMA : the Journal of the American Medical Association]] |volume=281 |issue=3 |pages=249–54 |year=1999 |month=January |pmid=9918480 |doi= |url=}}</ref>
-==Diagnosis==
+==[[Fabry's disease differential diagnosis|Differentiating Fabry's disease from other Diseases]]==
-===Symptoms===
-*Lack of sweating ([[anhidrosis]]) or decreased sweating
-*[[fatigue (medical)|Fatigue]]
-*Red spots on skin ([[angiokeratoma]]s): tiny, painless [[papules]] that appear at any region of the body, but are predominant on the thighs, buttocks, lower abdomen, and groin.
-*Burning pain of the extremities. This pain can become very intense, especially when one has a fever.
-*[[Loss of vision]] or blurry vision from corneal opacities.
-*[[Difficulty swallowing]] ([[dysphagia]])
-*[[Abdominal pain]]
-*[[Greasy stools]] ([[steatorrhea]])
-*[[Chest pain]] and [[palpitations]]
-*[[Delayed puberty]]
-*[[Pyrexia of unknown origin]]
-*[[Cyanosis]] of extremities on exposure to cold ([[Raynaud's phenomenon]])
-*[[Hearing loss]]
-*[[Loss of sensation]]s in extremities
-*[[Telangiectasis]]
-*[[Lack of coordination of muscle movement]] ([[ataxia]])
-===Physical Examination===
+==[[Fabry's disease epidemiology and demographics|Epidemiology and Demographics]]==
-====Appearance====
-*Severe [[growth retardation]]
-*Extreme mental and motor retardation
-====Vital Signs====
+==[[Fabry's disease risk factors|Risk Factors]]==
-*[[Irregularly irregular pulse]] may be present from [[cardiac arrhythmia]]s
-*[[Blood pressure]] may be raised
-*[[Pyrexia of unknown origin]]
-====Skin====
+==[[Fabry's disease screening|Screening]]==
-*[[Angiokeratomas]]
-*[[Hypohidrosis]]
-*[[Rash]]
-*[[Telangiectasias]]
-====Head====
+==[[Fabry's disease natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
-*Neck retraction
-==== Eyes ====
+==Diagnosis==
-*Decreased [[visual acuity]]: [[Loss of vision]] or [[blurring of vision]]
-*Corneal opacities
-*[[Fundoscopy]]:
-**Retinal pathology may be found
-==== Ear ====
+==Treatment==
-*[[Sensorineural hearing loss]] may be present
-==== Heart ====
+[[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]]
-*Palpation:
-**Precordial [[heave]]
-**[[Thrill]]
-*Auscultation:
-**[[S3]] may be heard
-**[[Holosystolic murmur]] from [[mitral regurgitation]]
-==== Abdomen ====
+==Case Studies==
-*[[Hepatomegaly]]
-*[[Splenomegaly]]
-==== Extremities ====
+[[Fabry's disease case study one|Case #1]]
-*[[Raynaud phenomenon]]
-==== Neurologic ====
-*[[Mental retardation]]
-*[[Growth retardation]]
-*Gradual loss of intellect
-*Motor retardation
-*[[Ataxia]]
-*[[Seizure]]s
-*[[Spasticity]]
-*[[Peripheral neuropathy]]
-==== Other ====
-*[[Fractures]] from [[Osteoporosis|osteoporotic bone]]
-*[[Delayed puberty]]: lack of development of [[secondary sexual characteristics]]
-*Male [[infertility]]
-*[[Priapism]]
-=== Laboratory Findings ===
-*Blood tests
-**[[Anemia]]
-**[[Serum creatinine]] may be raised from [[chronic renal failure]]
-**Serum [[urea]] may be elevated
-**[[BUN]] may be raised
-*[[Urinalysis]]:
-**[[Hematuria]]
-**[[Proteinuria]]
-====ECG abnormalities====
-*[[AV node]] conduction block
-*[[PR interval]] shortening
-*[[Arrhythmia]]s
-==== Ultrasound ====
-*[[Hemangioma]]s
-==Treatment==
-*Until recently, treatment of Fabry's 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.
-==References==
-{{reflist|2}}
 ==External links==
@@ Line 144: / Line 58: @@
 * [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]]