Fabrydiseaseinrheumatology practice

Download in PDF

Fabry disease is a rare X-linked storage disease resulting from the deficient activity of the lysosomal a-galactosidase A and leading to a progressive accumulation of glycosphingolipids in a wide range of cell types throughout the body. First symptoms of Fabry disease, e.g. neuropathic pain, angiokeratoma, gastrointestinal disorders, hypohidrosis/anhidrosis, are usually present from childhood or adolescence. Unfavorableoutcomes of Fabry disase are related to renal, cardiac and cerebrovascular disease that develops by the second to fourth decades of life. Awareness of physicians, including rheumatologists, is essential for diagnosis and timely enzyme replacement therapy.

Key words

Fabry disease, angiokeratoma, neuropathic pain, fever, diagnosis.