Fabry's disease: Difference between revisions

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{{Fabry's disease}}
{{Fabry's disease}}
{{CMG}}; {{AE}}{{AN}}{{SUF}} {{Neepa Shah}}
{{CMG}}; {{AE}}  
{{SK}}


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==[[Fabry's disease overview|Overview]]  ==
==[[Fabry's disease overview|Overview]]  ==
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==Diagnosis==
==Diagnosis==
==== [[Fabry's disease history and symptoms|History and Symptoms]] ====
*The first clinical symptoms interfering with the child's well-being and performance arise in childhood, typically between the ages of 3 and 10 years, and generally a few years later in girls than in boys
*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]])
[[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==
==Treatment==

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:


Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Fabry's disease from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigation Therapies

Case Studies

Case #1

External links

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