Fabry's disease natural history, complications and prognosis

Natural History [1]

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Homozygotes

• The symptoms of classic Fabry's disease usually develop in childhood or adolescents , and start with symptoms such as neuropathic pains, angiokeratomas, dyshidrosis, GI symptoms, and etc.
• Without treatment, lifespan of homozygote men will dramatically reduced to fifth decade and the main causes of deaths are renal failure, heart disease or stroke.

Heterozygote

• The symptoms of late-onset Fabry's disease in females and atypical variants are accrue in higher ages and are less severe.
• With out treatment, life span of heterozygote females will be at seventh decade and the main causes of death are cardiac dysfunction, cancer and stroke.

References

[1] 1-903539-03-XFabry, Hermann, et al. Fabry disease : perspectives from 5 years of FOS. Oxford: PharmaGenesis, 2006. Print.