Fabry's disease history and symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief:

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. .