Abstract
Fabry disease is a rare X-linked lysosomal storage disorder caused by the absence or deficiency of the hydrolase alpha-galactosidase A activity. As a consequence, accumulation of globotriaosylceramide occurs in a wide variety of cells throughout the human body. Specific gene mutations determine disease severity and different phenotypes.
Fabry disease is a multisystemic disease with nonspecific initial mani
festations. Neuropathic pain and acroparaesthesia are one of the earliest symptoms, already reported in childhood or adolescence. Later signs and symptoms involve the heart, kidney and brain, resulting in life-threatening complications such as cardiac and renal failure as well as cerebral strokes. Early treatment initiation can ameliorate disease progression and potentially prevents long-term complications.
Based on its diverse and nonspecific manifestation, it can take up to 15 years between the onset of the first symptoms and the final diagnosis of Fabry disease. Recognition of early symptoms, such as neuropathic pain and acroparaesthesia, and considering Fabry disease in young patients with stokes, is important.
As such, neurologists may play a key role in early diagnosis of this disease.
Rodieux, Frederique