Fabry's disease history and symptoms: Difference between revisions
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== | == Overview == | ||
A positive history of [[Angiokeratoma|angiokeratomas]], peripheral [[neuropathies]], gradually decreased sweating, and [[Gastrointestinal tract|gastrointestinal]] manifestations in childhood are suggestive of classic Fabry's disease. In the late-onset form of the disease neuropathic pain and gastrointestinal manifestation is not common and they may have organ-specific symptoms. | |||
* [[Fabry's disease]] should be considered in patients with a family history of the disease, clinical manifestations, and proven laboratory abnormalities. | ==History== | ||
*[[Fabry's disease]] should be considered in patients with a family history of the disease, clinical manifestations, and proven laboratory abnormalities. | |||
==Symptoms== | ==Symptoms== | ||
Revision as of 19:28, 15 April 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
A positive history of angiokeratomas, peripheral neuropathies, gradually decreased sweating, and gastrointestinal manifestations in childhood are suggestive of classic Fabry's disease. In the late-onset form of the disease neuropathic pain and gastrointestinal manifestation is not common and they may have organ-specific symptoms.
History
- Fabry's disease should be considered in patients with a family history of the disease, clinical manifestations, and proven laboratory abnormalities.
Symptoms
Neurological
- Lack of sweating (anhidrosis) or decreased sweating
- Burning pain in the extremities
- Loss of sensations in extremities
- Lack of coordination of muscle movement (ataxia)
- TIA or ischemic strokes
Gastrointestinal
- Difficulty swallowing (dysphagia)
- Abdominal pain
- Greasy stools (steatorrhea)
- Diarrhea and constipation
- Difficulty gaining weight
- Nausea and vomiting
- Postprandial pain
Cardiac
- Chest pain and palpitations
- Arrhythmias - ventricular
Skin
- Red spots on the skin (angiokeratomas): tiny, painless papules that appear at any region of the body, but are predominant on the thighs, buttocks, lower abdomen, and groin.
- Telangiectasis
- Decreased sweating ( hypohydriosis)
Musculoskeletal
- Osteopenia
- Osteoporosis
Endocrine
- Delayed puberty
- Intolerance to heat
General
- Fatigue
- Pyrexia of unknown origin
- Cyanosis of extremities on exposure to cold (Raynaud's phenomenon)
ENT
- Hearing loss
- Deafness
- Tinnitus
Ophthalmological
- Loss of vision from corneal and lenticular opacities
Nephrology
- Impaired ability of the medullary renal tubules to concentrate the urine ( hyposthenuria)
- Microalbuminuria, proteinuria
Respiratory
- wheezing
- chronic cough
References
[1] Charrow J. A 14-year-old boy with pain in hands and feet. Pediatr Ann. 2009;38:190–192. doi: 10.3928/00904481-20090401-01
[2] Schiffmann R, Warnock DG, Banikazemi M, Bultas J, Linthorst GE, Packman S, Sorensen SA, Wilcox WR, Desnick RJ. Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy. .