Fabry disease is the second most prevalent metabolic storage disorder of humans. Patients with this condition were originally described in 1898 by the dermatologists William Anderson in England and Johannes Fabry in Germany because of the occurrence of pigmented angiokeratomas on their skin, a common but not universal finding in this condition. It is an X-linked genetic condition frequently termed recessive, but heterozygous females often become symptomatic. With time, the kidneys, heart, brain, peripheral nerves, gastrointestinal tract, eyes, ears, lungs, and even the skeleton may become involved. A surprising aspect of this disorder is the nonuniformity of presentation of the signs and symptoms in various patients, even in siblings. Many patients experience pain in their hands and feet because of the peripheral neuropathy associated with this condition. It is frequently the initial sign of the disease in young affected males and frequently occurs somewhat later in heterozygous females (Brady and Schiffmann, 2005). The diagnosis of Fabry disease is not infrequently made by ophthalmologists because of the presence of corneal whorls (verticillata) and lens opacities along with tortuosity of the blood vessels of the retina. Vision is not appreciably impaired by these manifestations.
KeywordsEnzyme Replacement Therapy Fabry Disease Gauche Disease Enzymatic Defect Heterozygous Female
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