Fabry's disease
Template:DiseaseDisorder infobox
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Fabry's disease Microchapters |
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Fabry's disease On the Web |
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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
Historical Perspective
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
- 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
- Red spots on skin (angiokeratomas): 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 sensations in extremities
- Telangiectasis
- Lack of coordination of muscle movement (ataxia)
Echocardiography or Ultrasound
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
[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